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: rs397515966
rs397515966
MYBPC3
0.925 0.080 11 47337502 frameshift variant -/A delins 4.0E-06; 1.2E-05 7.0E-06
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 5 2004 2017
dbSNP: rs397516008
rs397516008
MYBPC3
0.925 0.080 11 47333297 frameshift variant -/A ins 7.0E-06
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 5 2010 2017
dbSNP: rs397515966
rs397515966
MYBPC3
0.925 0.080 11 47337502 frameshift variant -/A delins 4.0E-06; 1.2E-05 7.0E-06
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 1.000 2 2004 2014
dbSNP: rs397515944
rs397515944
MYBPC3
1.000 0.040 11 47339677 frameshift variant -/A delins 4.1E-06
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 1.000 1 2015 2015
dbSNP: rs397516059
rs397516059
MYBPC3
0.851 0.080 11 47349876 frameshift variant -/A delins 8.2E-06
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 1 2009 2009
dbSNP: rs1565623713
rs1565623713
MYBPC3
11 47333996 frameshift variant -/A delins
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 0
dbSNP: rs1565624090
rs1565624090
MYBPC3
1.000 0.080 11 47335078 frameshift variant -/A delins
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 0
dbSNP: rs397515970
rs397515970
MYBPC3
0.925 0.080 11 47337468 frameshift variant -/A delins
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 0
dbSNP: rs397515970
rs397515970
MYBPC3
0.925 0.080 11 47337468 frameshift variant -/A delins
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		0.700 0
dbSNP: rs397516008
rs397516008
MYBPC3
0.925 0.080 11 47333297 frameshift variant -/A ins 7.0E-06
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 0
dbSNP: rs397516059
rs397516059
MYBPC3
0.851 0.080 11 47349876 frameshift variant -/A delins 8.2E-06
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 0
dbSNP: rs397516059
rs397516059
MYBPC3
0.851 0.080 11 47349876 frameshift variant -/A delins 8.2E-06
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 0
dbSNP: rs397516059
rs397516059
MYBPC3
0.851 0.080 11 47349876 frameshift variant -/A delins 8.2E-06
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.700 0
dbSNP: rs397516059
rs397516059
MYBPC3
0.851 0.080 11 47349876 frameshift variant -/A delins 8.2E-06
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy 		0.700 0
dbSNP: rs727503209
rs727503209
MYBPC3
1.000 0.040 11 47346303 frameshift variant -/A delins
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 0
dbSNP: rs730880335
rs730880335
MYBPC3
1.000 0.040 11 47350574 frameshift variant -/A delins
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 0
dbSNP: rs730880341
rs730880341
MYBPC3
0.925 0.080 11 47337708 frameshift variant -/A delins
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.700 0
dbSNP: rs730880341
rs730880341
MYBPC3
0.925 0.080 11 47337708 frameshift variant -/A delins
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 0
dbSNP: rs730880361
rs730880361
MYBPC3
1.000 0.040 11 47332241 frameshift variant -/A delins
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 0
dbSNP: rs786204329
rs786204329
MYBPC3
0.925 0.080 11 47348494 frameshift variant -/AAGGCAGGCTGGGCATCGGTGATGTG delins
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 0
dbSNP: rs786204329
rs786204329
MYBPC3
0.925 0.080 11 47348494 frameshift variant -/AAGGCAGGCTGGGCATCGGTGATGTG delins
CUI: C1861862
Disease: Familial Hypertrophic Cardiomyopathy Type 4
Familial Hypertrophic Cardiomyopathy Type 4 		0.700 0
dbSNP: rs730880337
rs730880337
MYBPC3
1.000 0.040 11 47332968 splice acceptor variant -/ACTC delins
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 0
dbSNP: rs1565626367
rs1565626367
MYBPC3
11 47339656 frameshift variant -/ATAG delins
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 0
dbSNP: rs1555123633
rs1555123633
MYBPC3
1.000 0.040 11 47350599 frameshift variant -/ATGG delins
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 0
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