List of variants in gene MYBPC3 reported as pathogenic by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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: 46

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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.1224-52G>A	rs786204336	0.00003
NM_000256.3(MYBPC3):c.1505G>A (p.Arg502Gln)	rs397515907	0.00003
NM_000256.3(MYBPC3):c.1624+4A>T	rs397515916	0.00003
NM_000256.3(MYBPC3):c.927-2A>G	rs397516082	0.00003
NM_000256.3(MYBPC3):c.2308G>A (p.Asp770Asn)	rs36211723	0.00002
NM_000256.3(MYBPC3):c.2373dup (p.Trp792fs)	rs397515963	0.00002
NM_000256.3(MYBPC3):c.2374T>C (p.Trp792Arg)	rs187830361	0.00002
NM_000256.3(MYBPC3):c.2459G>A (p.Arg820Gln)	rs2856655	0.00002
NM_000256.3(MYBPC3):c.2827C>T (p.Arg943Ter)	rs387907267	0.00002
NM_000256.3(MYBPC3):c.3190+5G>A	rs587782958	0.00002
NM_000256.3(MYBPC3):c.927-9G>A	rs397516083	0.00002
NM_000256.3(MYBPC3):c.1227-13G>A	rs397515893	0.00001
NM_000256.3(MYBPC3):c.2490dup (p.His831fs)	rs397515966	0.00001
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.3697C>T (p.Gln1233Ter)	rs397516037	0.00001
NM_000256.3(MYBPC3):c.3811C>T (p.Arg1271Ter)	rs397516042	0.00001
NM_000256.3(MYBPC3):c.436dup (p.Thr146fs)	rs397516049	0.00001
NM_000256.3(MYBPC3):c.821+1G>A	rs397516073	0.00001
NM_000256.3(MYBPC3):c.1168del (p.His390fs)	rs397515889
NM_000256.3(MYBPC3):c.1235_1236del (p.Ile411_Phe412insTer)	rs397515894
NM_000256.3(MYBPC3):c.1777del (p.Ser593fs)
NM_000256.3(MYBPC3):c.177_187del (p.Glu60fs)	rs397515925
NM_000256.3(MYBPC3):c.1928-2A>G	rs397515937
NM_000256.3(MYBPC3):c.2149-1G>A	rs727504334
NM_000256.3(MYBPC3):c.2308+1G>A	rs112738974
NM_000256.3(MYBPC3):c.2309-2A>G	rs111729952
NM_000256.3(MYBPC3):c.2454G>A (p.Trp818Ter)	rs397515965
NM_000256.3(MYBPC3):c.2455_2459del (p.Met819fs)	rs730880652
NM_000256.3(MYBPC3):c.2555dup (p.Gly853fs)
NM_000256.3(MYBPC3):c.2556_2557delinsTCT (p.Gly853fs)	rs397515975
NM_000256.3(MYBPC3):c.2905+1G>A	rs397515991
NM_000256.3(MYBPC3):c.3288del (p.Glu1096fs)	rs727503172
NM_000256.3(MYBPC3):c.3330+5G>C	rs373746463
NM_000256.3(MYBPC3):c.350del (p.Pro117fs)	rs397516023
NM_000256.3(MYBPC3):c.3624del (p.Lys1209fs)	rs397516029
NM_000256.3(MYBPC3):c.3627+1G>A	rs397516031
NM_000256.3(MYBPC3):c.3742_3759dup (p.Gly1248_Cys1253dup)	rs193922384
NM_000256.3(MYBPC3):c.655G>C (p.Val219Leu)	rs397516068
NM_000256.3(MYBPC3):c.913_914del (p.Phe305fs)	rs397516080
NM_000256.3(MYBPC3):c.932C>A (p.Ser311Ter)	rs193922386

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