Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs28934905
rs28934905
MECP2
1.000 0.080 X 154031364 missense variant A/C;G snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.810 1.000 0 1999 2017
dbSNP: rs28935168
rs28935168
MECP2
1.000 0.080 X 154032286 missense variant G/C snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.800 1.000 0 1999 2017
dbSNP: rs61749715
rs61749715
MECP2
0.851 0.120 X 154031154 missense variant G/A;C snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.800 1.000 0 1999 2017
dbSNP: rs61751449
rs61751449
MECP2
0.925 0.080 X 154030864 missense variant G/A;C snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.800 1.000 0 1999 2017
dbSNP: rs61754421
rs61754421
MECP2
1.000 0.080 X 154032556 stop gained C/A;G snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.800 1.000 0 2013 2013
dbSNP: rs61754452
rs61754452
MECP2
1.000 0.080 X 154032283 missense variant G/A snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.800 1.000 0 2013 2013
dbSNP: rs61754453
rs61754453
MECP2
1.000 0.080 X 154032282 missense variant G/A;C;T snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.800 1.000 0 2013 2013
dbSNP: rs61754457
rs61754457
MECP2
1.000 0.080 X 154032267 missense variant C/A;T snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.800 1.000 0 2013 2013
dbSNP: rs61751364
rs61751364
MECP2
0.882 0.120 X 154030944 frameshift variant CGGAT/- delins
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.770 1.000 0 2005 2016
dbSNP: rs179363900
rs179363900
MECP2
0.807 0.080 X 154031374 missense variant G/C snv 5.5E-06 1.9E-05
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.710 1.000 0 2009 2009
dbSNP: rs267608475
rs267608475
MECP2
0.925 0.120 X 154031415 stop gained A/G;T snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.710 1.000 0 1999 1999
dbSNP: rs267608591
rs267608591
MECP2
1.000 0.080 X 154030643 splice acceptor variant TCTCGGGCTCAGGTGGAGGTGGGGGC/- delins
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.710 1.000 0 2016 2016
dbSNP: rs61751367
rs61751367
MECP2
0.925 0.080 X 154030939 stop gained G/A snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.710 1.000 0 2016 2016
dbSNP: rs786205045
rs786205045
MECP2
1.000 0.080 X 154097618 synonymous variant G/A snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.710 1.000 0 2013 2013
dbSNP: rs104894864
rs104894864
MECP2
1.000 0.080 X 154030465 stop gained C/A snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.700 0
dbSNP: rs1057518718
rs1057518718
MECP2
1.000 0.080 X 154032252 missense variant C/T snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.700 0
dbSNP: rs1064797104
rs1064797104
MECP2
1.000 0.080 X 154031053 stop gained -/TCAGCTTTTCGCTTCCTGCCGGGGC delins
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.700 0
dbSNP: rs1557134378
rs1557134378
MECP2
1.000 0.080 X 154029799 splice acceptor variant GACTTGAGCCACCACGGGTGGGATCGCACAGGCCATAGCCACTGGTCATATCCATCTTCTCTAAAGAATCCAACTGTCTCTCCTGCCTCACACCTCCCTGTCCCAACGTGGTTGGGAGTGGGGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTT/CCACGG delins
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.700 0
dbSNP: rs1557134481
rs1557134481
MECP2
1.000 0.080 X 154029915 splice acceptor variant GGGAGGTGGGGGGAGCTGGGGGAGCTGTAGACGGGGCACTGATGGCACCGAAAACGGGAGTGTCCTCTCAACTGCTCTGTCGCTCTGTCTCTAACGACCACATGGGGGAAAGGTTTGGGCGGGAGGGGAGGTGCCTGGTCAACAGCTTGTCTGGTCAGTAGTATCTGCAGCAAGCCTTGTTGAAGGAGCCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGG/- delins
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.700 0
dbSNP: rs1557134621
rs1557134621
MECP2
0.827 0.120 X 154030106 splice acceptor variant CCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAG/- delins
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.700 0
dbSNP: rs1557134720
rs1557134720
MECP2
1.000 0.080 X 154030250 splice acceptor variant AAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCA/- delins
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.700 0
dbSNP: rs1557134770
rs1557134770
MECP2
1.000 0.080 X 154030328 splice acceptor variant ATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTG/- del
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.700 0
dbSNP: rs1557134779
rs1557134779
MECP2
1.000 0.080 X 154030338 splice acceptor variant TTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTG/- delins
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.700 0
dbSNP: rs1557134819
rs1557134819
MECP2
1.000 0.080 X 154030354 splice acceptor variant GTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCC/- delins
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.700 0
dbSNP: rs1557134858
rs1557134858
MECP2
1.000 0.080 X 154030370 splice acceptor variant GCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGG/- del
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.700 0