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: rs397515937
rs397515937
MYBPC3
0.851 0.080 11 47339792 splice acceptor variant T/C snv
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 1.000 12 1995 2014
dbSNP: rs397515937
rs397515937
MYBPC3
0.851 0.080 11 47339792 splice acceptor variant T/C snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 11 1995 2014
dbSNP: rs397515963
rs397515963
MYBPC3
0.851 0.080 11 47337729 frameshift variant -/C delins 2.1E-05
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 11 1998 2015
dbSNP: rs397515963
rs397515963
MYBPC3
0.851 0.080 11 47337729 frameshift variant -/C delins 2.1E-05
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 1.000 11 1998 2015
dbSNP: rs397515963
rs397515963
MYBPC3
0.851 0.080 11 47337729 frameshift variant -/C delins 2.1E-05
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.700 1.000 10 1998 2015
dbSNP: rs397515947
rs397515947
MYBPC3
1.000 0.040 11 47339376 frameshift variant G/- delins
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 1.000 9 1998 2017
dbSNP: rs397515990
rs397515990
MYBPC3
0.851 0.080 11 47335082 frameshift variant AG/- del 7.0E-06
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 1.000 9 1998 2014
dbSNP: rs727503166
rs727503166
MYBPC3
0.851 0.080 11 47332110 frameshift variant T/- del
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 9 2008 2017
dbSNP: rs193922384
rs193922384
MYBPC3
0.882 0.080 11 47332126 inframe insertion -/CAGACATAGATGCCCCCG delins 2.8E-05
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 1.000 8 1995 2014
dbSNP: rs397515991
rs397515991
MYBPC3
0.925 0.080 11 47335041 splice donor variant C/G;T snv
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 1.000 8 1997 2017
dbSNP: rs397516020
rs397516020
MYBPC3
0.925 0.080 11 47332813 splice donor variant C/A;G;T snv
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 1.000 8 1997 2017
dbSNP: rs387906397
rs387906397
MYBPC3
0.851 0.080 11 47333192 splice donor variant A/C;G snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 7 1995 2013
dbSNP: rs397515947
rs397515947
MYBPC3
1.000 0.040 11 47339376 frameshift variant G/- delins
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 1.000 7 1998 2017
dbSNP: rs397515990
rs397515990
MYBPC3
0.851 0.080 11 47335082 frameshift variant AG/- del 7.0E-06
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 7 1998 2011
dbSNP: rs397516070
rs397516070
MYBPC3
0.882 0.080 11 47348486 missense variant T/G snv
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 1.000 7 2003 2017
dbSNP: rs977277400
rs977277400
MYBPC3
11 47336012 splice acceptor variant C/G snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 7 1995 2013
dbSNP: rs977277400
rs977277400
MYBPC3
11 47336012 splice acceptor variant C/G snv
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 7 1995 2013
dbSNP: rs111729952
rs111729952
MYBPC3
0.925 0.080 11 47337796 splice acceptor variant T/A;C;G snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 6 2004 2016
dbSNP: rs112738974
rs112738974
MYBPC3
0.882 0.080 11 47338519 splice donor variant C/A;G;T snv
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 1.000 6 1997 2017
dbSNP: rs193922384
rs193922384
MYBPC3
0.882 0.080 11 47332126 inframe insertion -/CAGACATAGATGCCCCCG delins 2.8E-05
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 6 1995 2014
dbSNP: rs397515889
rs397515889
MYBPC3
0.925 0.080 11 47343547 frameshift variant G/-;GG delins
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 6 2001 2017
dbSNP: rs397515907
rs397515907
MYBPC3
0.882 0.080 11 47342697 missense variant C/A;T snv
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 1.000 6 1998 2012
dbSNP: rs397516080
rs397516080
MYBPC3
0.882 0.080 11 47346639 frameshift variant AA/- delins
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 1.000 6 2008 2016
dbSNP: rs397516083
rs397516083
MYBPC3
0.851 0.080 11 47346379 intron variant C/T snv 2.1E-05
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 6 2010 2016
dbSNP: rs112738974
rs112738974
MYBPC3
0.882 0.080 11 47338519 splice donor variant C/A;G;T snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 5 1997 2010