List of variants in gene MYBPC3 reported as pathogenic by Agnes Ginges Centre for Molecular Cardiology, Centenary Institute

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 30

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HGVS	dbSNP	gnomAD frequency
NM_000256.3(MYBPC3):c.1504C>T (p.Arg502Trp)	rs375882485	0.00010
NM_000256.3(MYBPC3):c.1624G>C (p.Glu542Gln)	rs121909374	0.00006
NM_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln)	rs200411226	0.00004
NM_000256.3(MYBPC3):c.772G>A (p.Glu258Lys)	rs397516074	0.00004
NM_000256.3(MYBPC3):c.2373dup (p.Trp792fs)	rs397515963	0.00002
NM_000256.3(MYBPC3):c.2864_2865del (p.Pro955fs)	rs397515990	0.00001
NM_000256.3(MYBPC3):c.3408C>A (p.Tyr1136Ter)	rs193922383	0.00001
NM_000256.3(MYBPC3):c.3490+1G>T	rs397516020	0.00001
NM_000256.3(MYBPC3):c.1227-1G>C	rs113276889
NM_000256.3(MYBPC3):c.1302C>A (p.Tyr434Ter)	rs190228518
NM_000256.3(MYBPC3):c.1359del (p.Val454fs)	rs863225271
NM_000256.3(MYBPC3):c.1483C>G (p.Arg495Gly)	rs397515905
NM_000256.3(MYBPC3):c.177_187del (p.Glu60fs)	rs397515925
NM_000256.3(MYBPC3):c.1838dup (p.Asp613fs)	rs730880649
NM_000256.3(MYBPC3):c.1928-2A>G	rs397515937
NM_000256.3(MYBPC3):c.2096del (p.Pro699fs)	rs397515947
NM_000256.3(MYBPC3):c.2371C>T (p.Gln791Ter)	rs863225106
NM_000256.3(MYBPC3):c.2413+1G>A	rs1595843828
NM_000256.3(MYBPC3):c.25+1G>A	rs113709679
NM_000256.3(MYBPC3):c.2524dup (p.Tyr842fs)	rs397515970
NM_000256.3(MYBPC3):c.2604_2605delinsA (p.Ser871fs)	rs727504371
NM_000256.3(MYBPC3):c.2905C>T (p.Gln969Ter)	rs397515992
NM_000256.3(MYBPC3):c.3192dup (p.Lys1065fs)	rs397516007
NM_000256.3(MYBPC3):c.3257G>A (p.Trp1086Ter)	rs779650200
NM_000256.3(MYBPC3):c.3476_3477insATTT (p.Phe1159fs)	rs1595841206
NM_000256.3(MYBPC3):c.3490+1G>A	rs397516020
NM_000256.3(MYBPC3):c.3624del (p.Lys1209fs)	rs397516029
NM_000256.3(MYBPC3):c.3712_3713del (p.Leu1238fs)	rs863225272
NM_000256.3(MYBPC3):c.613C>T (p.Gln205Ter)	rs397516061
NM_000256.3(MYBPC3):c.913_914del (p.Phe305fs)	rs397516080

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