List of variants in gene MYBPC3 reported as likely pathogenic by Laboratory of Genetics and Molecular Cardiology, University of São Paulo

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: 29

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HGVS	dbSNP	gnomAD frequency
NM_000256.3(MYBPC3):c.640G>A (p.Asp214Asn)	rs769167548	0.00009
NM_000256.3(MYBPC3):c.2429G>A (p.Arg810His)	rs375675796	0.00005
NM_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln)	rs200411226	0.00004
NM_000256.3(MYBPC3):c.3065G>C (p.Arg1022Pro)	rs397516000	0.00004
NM_000256.3(MYBPC3):c.772G>A (p.Glu258Lys)	rs397516074	0.00004
NM_000256.3(MYBPC3):c.1505G>A (p.Arg502Gln)	rs397515907	0.00003
NM_000256.3(MYBPC3):c.223G>A (p.Asp75Asn)	rs375471260	0.00003
NM_000256.3(MYBPC3):c.2864_2865del (p.Pro955fs)	rs397515990	0.00001
NM_000256.3(MYBPC3):c.3286G>T (p.Glu1096Ter)	rs121909377	0.00001
NM_000256.3(MYBPC3):c.3642G>A (p.Trp1214Ter)	rs368765949	0.00001
NM_000256.3(MYBPC3):c.1357C>T (p.Pro453Ser)	rs749310275
NM_000256.3(MYBPC3):c.1358dup (p.Val454fs)	rs727503203
NM_000256.3(MYBPC3):c.1510AAG[1] (p.Lys505del)	rs727504287
NM_000256.3(MYBPC3):c.2065C>T (p.Gln689Ter)	rs863224483
NM_000256.3(MYBPC3):c.227dup (p.Ser78fs)	rs863225111
NM_000256.3(MYBPC3):c.2371C>T (p.Gln791Ter)	rs863225106
NM_000256.3(MYBPC3):c.2376G>A (p.Trp792Ter)	rs863225112
NM_000256.3(MYBPC3):c.2394dup (p.Gly799fs)	rs730880341
NM_000256.3(MYBPC3):c.2432AGA[3] (p.Lys814del)	rs727504288
NM_000256.3(MYBPC3):c.2541C>G (p.Tyr847Ter)	rs397515974
NM_000256.3(MYBPC3):c.2550del (p.Asn850fs)	rs863225105
NM_000256.3(MYBPC3):c.2670dup (p.Arg891fs)	rs863225104
NM_000256.3(MYBPC3):c.306del (p.Met103fs)	rs863225109
NM_000256.3(MYBPC3):c.3300C>A (p.Tyr1100Ter)	rs863225113
NM_000256.3(MYBPC3):c.3414dup (p.Val1139fs)	rs863225114
NM_000256.3(MYBPC3):c.3599T>C (p.Leu1200Pro)	rs397516028
NM_000256.3(MYBPC3):c.3624dup (p.Lys1209fs)	rs397516029
NM_000256.3(MYBPC3):c.3662del (p.Leu1221fs)	rs863225107
NM_000256.3(MYBPC3):c.913_914del (p.Phe305fs)	rs397516080

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