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: rs104894205
rs104894205
CSRP3
0.882 0.040 11 19188286 missense variant A/G snv 1.2E-05 5.6E-05
CUI: C2677491
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12 		0.800 1.000 4 2003 2017
dbSNP: rs104894204
rs104894204
CSRP3
0.882 0.040 11 19188245 missense variant A/C snv
CUI: C2677491
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12 		0.800 1.000 0 2003 2016
dbSNP: rs104894205
rs104894205
CSRP3
0.882 0.040 11 19188286 missense variant A/G snv 1.2E-05 5.6E-05
CUI: C1843808
Disease: CARDIOMYOPATHY, DILATED, 1M
CARDIOMYOPATHY, DILATED, 1M 		0.700 1.000 4 2006 2017
dbSNP: rs761507504
rs761507504
CSRP3
0.925 0.040 11 19185011 missense variant C/T snv 1.2E-05 7.0E-06
CUI: C1843808
Disease: CARDIOMYOPATHY, DILATED, 1M
CARDIOMYOPATHY, DILATED, 1M 		0.700 1.000 2 2013 2015
dbSNP: rs761507504
rs761507504
CSRP3
0.925 0.040 11 19185011 missense variant C/T snv 1.2E-05 7.0E-06
CUI: C2677491
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12 		0.700 1.000 2 2013 2015
dbSNP: rs142019584
rs142019584
CSRP3
1.000 11 19182719 missense variant G/A;C snv 3.2E-05; 4.0E-06 3.5E-05
CUI: C2677491
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12 		0.700 0
dbSNP: rs1565050320
rs1565050320
CSRP3
11 19185040 missense variant C/G snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0
dbSNP: rs1565050709
rs1565050709
CSRP3
11 19186268 frameshift variant G/- delins
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 0
dbSNP: rs1565053085
rs1565053085
CSRP3
11 19192353 synonymous variant C/T snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0
dbSNP: rs1565053147
rs1565053147
CSRP3
11 19192403 missense variant T/A snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0
dbSNP: rs193922667
rs193922667
CSRP3
11 19186265 missense variant C/T snv 1.2E-05 4.2E-05
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 0
dbSNP: rs281865416
rs281865416
CSRP3
1.000 11 19188253 missense variant TCCGA/CCCCT mnv
CUI: C2677491
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12 		0.700 0
dbSNP: rs876657767
rs876657767
CSRP3
11 19186276 missense variant C/G;T snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0
dbSNP: rs902082118
rs902082118
CSRP3
11 19186266 stop gained G/A snv 1.2E-05
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 0