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: rs1561524235
rs1561524235
DNAH5
5 13894822 splice acceptor variant C/T snv
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.700 1.000 2 2002 2006
dbSNP: rs1561532139
rs1561532139
DNAH5
5 13899532 splice donor variant AAAAACTATCTTGTACTTAAATGGGAACTACTGATTCCCTCCTGCTGCTCCAAATACACTAGTTTCGGTTTTCGCCATCTCCATAACTTGAACTTACAGTCAGGGCCCCTGCATGGTATTGTGCAAGTTATGAAGAATGCAACCTACACAGCATTCTACGGCACCCCTGCTTTAATTCATGGAACTGCTCACACCAAAACCACAGGTATTATTCCTGAGTTCTCTTATAACCTGACTGTTGACATAACTCTAAATTCTCCAAACAACTCTGCTGCCATCCCAGTTCAAGCTCTCATCTTCATCCTGGGCCAGTGCAACACTTCACAAACAGGCTTCCCGCTGATACCCCTCGTCCCTCTTAACATCCATTTTCCACCCAGCAGTAAGAATAACTTTTATTATAAAAAGAGATCGTGCCTTTTTCAGTGGCTCGAAATCCTCCAATGGTTTCCTGGTACACTCAAAATAAAACCCAAGCTTCTCATCTTGGCCTGCAAGACCTGTAACGGCCTGGCCCCAGCCAACTCTGCAGCTGCACCCCATGGCACTGTCCCCTCAGTCACTCCATTCATCCTGGCCACTTTCTGCTCCTTGAATATGACACATCACCATATTTTTTTATAATACATTCCAGAGCTAGCCAAGAATGGGGGGAAAAAATAAAAGTAGTATACCTTCATGTTA/- del
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.700 1.000 2 2002 2006
dbSNP: rs200693106
rs200693106
DNAH11
7 21702773 stop gained C/A;T snv 3.6E-05
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.700 1.000 2 2012 2015
dbSNP: rs201780665
rs201780665
CCDC39
3 180642072 stop gained G/A;T snv 7.6E-05; 8.1E-06
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.700 1.000 2 2013 2014
dbSNP: rs565076112
rs565076112
DNAH5
5 13922330 splice acceptor variant T/C snv 2.4E-05
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.700 1.000 2 2002 2006
dbSNP: rs727502971
rs727502971
DNAH5
5 13708264 frameshift variant GTCT/- delins 2.0E-05 2.8E-05
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.700 1.000 2 2006 2009
dbSNP: rs747233125
rs747233125
CCDC40
17 80086207 stop gained C/G;T snv 8.8E-06
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.700 1.000 2 2011 2013
dbSNP: rs753580394
rs753580394
CCDC39
3 180644119 splice donor variant C/T snv 6.8E-06
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.700 1.000 2 2011 2013
dbSNP: rs757801770
rs757801770
DNAH5
5 13883096 splice acceptor variant T/G snv
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.700 1.000 2 2002 2006
dbSNP: rs767713588
rs767713588
DNAAF5
7 756995 splice donor variant G/A;T snv 4.7E-05
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.700 1.000 2 2014 2014
dbSNP: rs769267893
rs769267893
DNAH5
5 13928180 splice acceptor variant T/C snv 4.0E-06
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.700 1.000 2 2002 2006
dbSNP: rs772686744
rs772686744
DNAI1
9 34514527 missense variant G/C snv 1.6E-05 2.8E-05
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.700 1.000 2 2001 2008
dbSNP: rs773711154
rs773711154
DNAH5
5 13830675 stop gained G/A snv 1.2E-05 1.4E-05
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.700 1.000 2 2013 2016
dbSNP: rs863224503
rs863224503
DNAH5
5 13708337 splice acceptor variant T/G snv
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.700 1.000 2 2002 2006
dbSNP: rs914675446
rs914675446
DNAH5
5 13768959 splice donor variant C/G snv 4.0E-06 7.0E-06
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.700 1.000 2 2002 2006
dbSNP: rs1007345781
rs1007345781
TTC14 ; CCDC39
3 180616604 frameshift variant GT/- delins 8.7E-06 2.8E-05
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.700 1.000 1 2013 2013
dbSNP: rs1161303371
rs1161303371
DNAH5
5 13700730 missense variant A/G snv
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.700 1.000 1 2016 2016
dbSNP: rs1193586811
rs1193586811
DNAH5
5 13792038 stop gained G/A snv 1.2E-05 3.5E-05
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.700 1.000 1 2006 2006
dbSNP: rs1233811324
rs1233811324
RSPH9
6 43645215 stop gained C/A snv 1.2E-05
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.700 1.000 1 2014 2014
dbSNP: rs1305797678
rs1305797678
DNAH5
5 13769584 frameshift variant C/- del 8.0E-06
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.700 1.000 1 2015 2015
dbSNP: rs1443540935
rs1443540935
DNAH5
5 13794045 frameshift variant CTCT/- delins 8.0E-06
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.700 1.000 1 2014 2014
dbSNP: rs1444391928
rs1444391928
RSPH4A
6 116617143 frameshift variant A/-;AA delins
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.700 1.000 1 2009 2009
dbSNP: rs145974361
rs145974361
DNAH8
6 38860630 splice donor variant G/A snv 5.9E-05 8.0E-05
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.700 1.000 1 2014 2014
dbSNP: rs146412095
rs146412095
DRC1
2 26450086 splice donor variant G/A;T snv 8.1E-05; 4.1E-06
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.700 1.000 1 2013 2013
dbSNP: rs201133219
rs201133219
CCDC114
1.000 19 48297995 splice region variant C/T snv 8.0E-05 7.0E-05
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.700 1.000 1 2013 2013