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: rs1025692267
rs1025692267
MYBPC3
1.000 0.080 11 47343342 intron variant C/T snv 5.6E-05
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 1 2019 2019
dbSNP: rs1565622952
rs1565622952
MYBPC3
1.000 0.080 11 47332947 stop gained G/T snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 1 2017 2017
dbSNP: rs397515965
rs397515965
MYBPC3
0.925 0.080 11 47337539 stop gained C/A;T snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 1 2017 2017
dbSNP: rs727504265
rs727504265
MYBPC3
0.925 0.080 11 47335166 frameshift variant TG/- delins 7.0E-06
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 1 2017 2017
dbSNP: rs730880759
rs730880759
MYH7
0.925 0.080 14 23424068 stop gained C/A;T snv 4.0E-06
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 1 2017 2017
dbSNP: rs771929829
rs771929829
MYBPC3
1.000 0.080 11 47348449 stop gained G/A;T snv 8.1E-06; 4.1E-06
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 1 2017 2017
dbSNP: rs863224483
rs863224483
MYBPC3
0.925 0.080 11 47339653 stop gained G/A snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 1 2017 2017
dbSNP: rs1057517773
rs1057517773
MYH7
1.000 0.080 14 23431641 missense variant C/T snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 3 2016 2017
dbSNP: rs397515964
rs397515964
MYBPC3
1.000 0.080 11 47337543 missense variant C/A;G;T snv 8.0E-06; 1.2E-05
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 2 2016 2017
dbSNP: rs397515977
rs397515977
MYBPC3
0.925 0.080 11 47337435 frameshift variant C/- delins
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 2 2016 2017
dbSNP: rs397516049
rs397516049
MYBPC3
0.925 0.080 11 47350082 frameshift variant -/T delins 3.0E-05 7.0E-06
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 2 2016 2017
dbSNP: rs199474703
rs199474703
MYL3
0.851 0.120 3 46860702 missense variant C/T snv 8.0E-06
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 1 2016 2016
dbSNP: rs727504311
rs727504311
MYH7
0.882 0.080 14 23424905 missense variant T/C snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 4 2015 2018
dbSNP: rs201078659
rs201078659
MYBPC3
0.925 0.080 11 47346380 intron variant G/A;C;T snv 3.3E-05
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 2 2015 2017
dbSNP: rs727503174
rs727503174
MYBPC3
0.925 0.080 11 47333580 frameshift variant -/C delins
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 2 2015 2017
dbSNP: rs727503188
rs727503188
MYBPC3
0.882 0.080 11 47337544 missense variant G/A snv 4.0E-06
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 2 2015 2017
dbSNP: rs730880576
rs730880576
MYBPC3
1.000 0.080 11 47335199 stop gained C/T snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 2 2015 2017
dbSNP: rs397515934
rs397515934
MYBPC3
0.925 0.080 11 47341140 frameshift variant A/- del
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 1 2015 2015
dbSNP: rs727503211
rs727503211
MYBPC3
0.925 0.080 11 47346331 stop gained C/T snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 1 2015 2015
dbSNP: rs193922383
rs193922383
MYBPC3
0.925 0.080 11 47332896 stop gained G/A;T snv 4.2E-06
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 4 2014 2017
dbSNP: rs727503212
rs727503212
MYBPC3
0.882 0.080 11 47347669 frameshift variant C/- delins 1.1E-05 2.1E-05
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 2 2014 2017
dbSNP: rs730880883
rs730880883
MYH7
1.000 0.080 14 23426809 missense variant C/T snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 2 2014 2017
dbSNP: rs1565627536
rs1565627536
MYBPC3
1.000 0.080 11 47342051 frameshift variant AC/- delins
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 1 2014 2014
dbSNP: rs397516006
rs397516006
MYBPC3
0.925 0.080 11 47333291 stop gained C/T snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 1 2014 2014
dbSNP: rs397516040
rs397516040
MYBPC3
0.925 0.080 11 47332117 inframe deletion TGG/- delins
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 1 2014 2014