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: rs193922680
rs193922680
ACTC1 ; LOC101928174
0.790 0.080 15 34793398 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C2677506
Disease: Cardiomyopathy, Familial Hypertrophic, 11
Cardiomyopathy, Familial Hypertrophic, 11 		0.800 1.000 7 2000 2017
dbSNP: rs121912673
rs121912673
ACTC1 ; LOC101928174
0.882 0.080 15 34791163 missense variant C/T snv 8.0E-06 2.8E-05
CUI: C3150681
Disease: CARDIOMYOPATHY, DILATED, 1R
CARDIOMYOPATHY, DILATED, 1R 		0.800 1.000 5 1998 2014
dbSNP: rs121912674
rs121912674
ACTC1 ; LOC101928174
1.000 15 34790458 missense variant T/C snv
CUI: C3150681
Disease: CARDIOMYOPATHY, DILATED, 1R
CARDIOMYOPATHY, DILATED, 1R 		0.800 1.000 0 1998 1998
dbSNP: rs121912675
rs121912675
ACTC1 ; LOC101928174
1.000 0.080 15 34791215 missense variant C/A snv
CUI: C2677506
Disease: Cardiomyopathy, Familial Hypertrophic, 11
Cardiomyopathy, Familial Hypertrophic, 11 		0.800 1.000 0 1999 2017
dbSNP: rs121912677
rs121912677
ACTC1 ; LOC101928174
1.000 0.080 15 34793326 missense variant T/C snv
CUI: C2748552
Disease: Atrial Septal Defect 5
Atrial Septal Defect 5 		0.800 1.000 0 2008 2008
dbSNP: rs267606628
rs267606628
ACTC1 ; LOC101928174
1.000 0.080 15 34792528 missense variant G/A;C snv
CUI: C2677506
Disease: Cardiomyopathy, Familial Hypertrophic, 11
Cardiomyopathy, Familial Hypertrophic, 11 		0.800 1.000 0 2011 2017
dbSNP: rs267606629
rs267606629
ACTC1 ; LOC101928174
1.000 0.080 15 34790549 missense variant C/G snv
CUI: C2677506
Disease: Cardiomyopathy, Familial Hypertrophic, 11
Cardiomyopathy, Familial Hypertrophic, 11 		0.800 1.000 0 2011 2017
dbSNP: rs193922680
rs193922680
ACTC1 ; LOC101928174
0.790 0.080 15 34793398 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 1.000 8 2000 2014
dbSNP: rs121912673
rs121912673
ACTC1 ; LOC101928174
0.882 0.080 15 34791163 missense variant C/T snv 8.0E-06 2.8E-05
CUI: C2748552
Disease: Atrial Septal Defect 5
Atrial Septal Defect 5 		0.700 1.000 5 1998 2014
dbSNP: rs121912673
rs121912673
ACTC1 ; LOC101928174
0.882 0.080 15 34791163 missense variant C/T snv 8.0E-06 2.8E-05
CUI: C2677506
Disease: Cardiomyopathy, Familial Hypertrophic, 11
Cardiomyopathy, Familial Hypertrophic, 11 		0.700 1.000 5 1998 2014
dbSNP: rs193922680
rs193922680
ACTC1 ; LOC101928174
0.790 0.080 15 34793398 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C2748552
Disease: Atrial Septal Defect 5
Atrial Septal Defect 5 		0.700 1.000 5 2000 2011
dbSNP: rs193922680
rs193922680
ACTC1 ; LOC101928174
0.790 0.080 15 34793398 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C3150681
Disease: CARDIOMYOPATHY, DILATED, 1R
CARDIOMYOPATHY, DILATED, 1R 		0.700 1.000 5 2000 2011
dbSNP: rs397517065
rs397517065
ACTC1 ; LOC101928174
15 34792471 missense variant G/A snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 5 2007 2016
dbSNP: rs730880404
rs730880404
ACTC1 ; LOC101928174
1.000 0.040 15 34791136 missense variant G/A snv
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 1.000 3 2012 2014
dbSNP: rs727504323
rs727504323
ACTC1 ; LOC101928174
1.000 0.040 15 34792105 missense variant G/C snv
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 1.000 1 2017 2017
dbSNP: rs727504379
rs727504379
ACTC1 ; LOC101928174
1.000 0.040 15 34791238 missense variant A/G snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 1.000 1 2014 2014
dbSNP: rs727504379
rs727504379
ACTC1 ; LOC101928174
1.000 0.040 15 34791238 missense variant A/G snv
CUI: C1960469
Disease: Left ventricular noncompaction
Left ventricular noncompaction 		0.700 1.000 1 2014 2014
dbSNP: rs863225303
rs863225303
ACTC1 ; LOC101928174
1.000 15 34791210 missense variant G/C snv
CUI: C3150681
Disease: CARDIOMYOPATHY, DILATED, 1R
CARDIOMYOPATHY, DILATED, 1R 		0.700 1.000 1 1998 1998
dbSNP: rs1555418832
rs1555418832
ACTC1 ; LOC101928174
1.000 0.080 15 34792499 frameshift variant -/G ins
CUI: C0043202
Disease: Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White Syndrome 		0.700 0
dbSNP: rs1566967399
rs1566967399
ACTC1 ; LOC101928174
15 34792158 missense variant C/T snv
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 0
dbSNP: rs193922680
rs193922680
ACTC1 ; LOC101928174
0.790 0.080 15 34793398 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C3150682
Disease: LEFT VENTRICULAR NONCOMPACTION 4
LEFT VENTRICULAR NONCOMPACTION 4 		0.700 0
dbSNP: rs193922680
rs193922680
ACTC1 ; LOC101928174
0.790 0.080 15 34793398 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 0
dbSNP: rs193922680
rs193922680
ACTC1 ; LOC101928174
0.790 0.080 15 34793398 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 0
dbSNP: rs193922681
rs193922681
ACTC1 ; LOC101928174
1.000 0.080 15 34794742 missense variant A/G snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 0
dbSNP: rs387906585
rs387906585
ACTC1 ; LOC101928174
1.000 0.080 15 34793468 frameshift variant CATGCTCGATGGGATAC/- delins
CUI: C2748552
Disease: Atrial Septal Defect 5
Atrial Septal Defect 5 		0.700 0