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: rs104894942
rs104894942
DNASE1L1 ; TAZ
1.000 0.120 X 154413248 missense variant C/A;T snv
CUI: C0574083
Disease: 3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 2 		0.810 1.000 0 1997 2002
dbSNP: rs104894937
rs104894937
DNASE1L1 ; TAZ
1.000 0.120 X 154413549 missense variant T/C snv
CUI: C0574083
Disease: 3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 2 		0.800 1.000 0 1997 2002
dbSNP: rs132630277
rs132630277
TAZ
1.000 0.120 X 154420037 missense variant G/A snv
CUI: C0574083
Disease: 3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 2 		0.800 1.000 0 1997 2002
dbSNP: rs387907218
rs387907218
TAZ
1.000 0.120 X 154420676 missense variant G/A;C snv
CUI: C0574083
Disease: 3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 2 		0.800 1.000 0 1997 2002
dbSNP: rs387907218
rs387907218
TAZ
1.000 0.120 X 154420676 missense variant G/A;C snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.710 1.000 4 1973 2018
dbSNP: rs1060500044
rs1060500044
DNASE1L1 ; TAZ
1.000 0.120 X 154413249 missense variant G/A;T snv
CUI: C0574083
Disease: 3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 2 		0.700 1.000 5 1997 2013
dbSNP: rs1085307797
rs1085307797
TAZ
1.000 0.120 X 154420094 missense variant G/A snv
CUI: C0574083
Disease: 3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 2 		0.700 1.000 5 1997 2014
dbSNP: rs1569552731
rs1569552731
DNASE1L1 ; TAZ
1.000 0.120 X 154413564 stop gained C/T snv
CUI: C0574083
Disease: 3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 2 		0.700 1.000 3 2006 2017
dbSNP: rs397515746
rs397515746
TAZ
1.000 0.120 X 154420038 missense variant G/A snv
CUI: C0574083
Disease: 3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 2 		0.700 1.000 2 1991 1997
dbSNP: rs727504327
rs727504327
DNASE1L1 ; TAZ
1.000 0.120 X 154413544 missense variant G/A snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 1.000 2 2001 2011
dbSNP: rs727504327
rs727504327
DNASE1L1 ; TAZ
1.000 0.120 X 154413544 missense variant G/A snv
CUI: C0574083
Disease: 3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 2 		0.700 1.000 2 2001 2011
dbSNP: rs1557194488
rs1557194488
TAZ
1.000 0.120 X 154420915 missense variant A/G snv
CUI: C0574083
Disease: 3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 2 		0.700 1.000 1 2018 2018
dbSNP: rs397515739
rs397515739
DNASE1L1 ; TAZ
1.000 0.120 X 154413525 missense variant T/C snv
CUI: C0574083
Disease: 3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 2 		0.700 1.000 1 2011 2011
dbSNP: rs397515741
rs397515741
DNASE1L1 ; TAZ
1.000 0.120 X 154413507 missense variant T/C snv
CUI: C0574083
Disease: 3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 2 		0.700 1.000 1 2011 2011
dbSNP: rs397515747
rs397515747
TAZ
1.000 0.120 X 154420657 splice acceptor variant G/A snv
CUI: C0574083
Disease: 3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 2 		0.700 1.000 1 2013 2013
dbSNP: rs104894941
rs104894941
DNASE1L1 ; TAZ
0.925 0.120 X 154412129 stop gained C/G snv
CUI: C0574083
Disease: 3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 2 		0.700 0
dbSNP: rs1557194525
rs1557194525
TAZ
1.000 0.120 X 154420961 frameshift variant C/- del
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0
dbSNP: rs1557194525
rs1557194525
TAZ
1.000 0.120 X 154420961 frameshift variant C/- del
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.700 0
dbSNP: rs1557194525
rs1557194525
TAZ
1.000 0.120 X 154420961 frameshift variant C/- del
CUI: C0574083
Disease: 3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 2 		0.700 0
dbSNP: rs1569552936
rs1569552936
TAZ
X 154420249 frameshift variant C/- delins
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 0
dbSNP: rs397515738
rs397515738
DNASE1L1 ; TAZ
1.000 0.120 X 154412184 stop gained C/T snv
CUI: C0574083
Disease: 3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 2 		0.700 0
dbSNP: rs397515740
rs397515740
DNASE1L1 ; TAZ
1.000 0.120 X 154413504 missense variant T/C snv
CUI: C0574083
Disease: 3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 2 		0.700 0
dbSNP: rs397515750
rs397515750
TAZ
X 154420948 stop gained C/T snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0
dbSNP: rs587776741
rs587776741
TAZ
1.000 0.120 X 154420211 splice acceptor variant G/C snv
CUI: C0574083
Disease: 3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 2 		0.700 0
dbSNP: rs727504394
rs727504394
TAZ
1.000 0.120 X 154420666 frameshift variant TG/- delins
CUI: C0574083
Disease: 3-Methylglutaconic aciduria type 2
3-Methylglutaconic aciduria type 2 		0.700 0