List of variants in gene MYBPC3 reported as likely pathogenic by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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: 28

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HGVS	dbSNP	gnomAD frequency
NM_000256.3(MYBPC3):c.1591G>C (p.Gly531Arg)	rs397515912	0.00006
NM_000256.3(MYBPC3):c.1790G>A (p.Arg597Gln)	rs727503195	0.00005
NM_000256.3(MYBPC3):c.2429G>A (p.Arg810His)	rs375675796	0.00005
NM_000256.3(MYBPC3):c.3065G>C (p.Arg1022Pro)	rs397516000	0.00004
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.2573G>A (p.Ser858Asn)	rs727503185	0.00001
NM_000256.3(MYBPC3):c.(?_26)_(1090_?)del
NM_000256.3(MYBPC3):c.1343T>C (p.Phe448Ser)	rs727504279
NM_000256.3(MYBPC3):c.1483C>G (p.Arg495Gly)	rs397515905
NM_000256.3(MYBPC3):c.1483C>T (p.Arg495Trp)	rs397515905
NM_000256.3(MYBPC3):c.1591G>A (p.Gly531Arg)	rs397515912
NM_000256.3(MYBPC3):c.2148+1G>T	rs1060499604
NM_000256.3(MYBPC3):c.2528_2536del (p.Glu843_Arg845del)	rs397515972
NM_000256.3(MYBPC3):c.3330+5G>T	rs373746463
NM_000256.3(MYBPC3):c.343G>T (p.Gly115Ter)	rs727503220
NM_000256.3(MYBPC3):c.3599T>C (p.Leu1200Pro)	rs397516028
NM_000256.3(MYBPC3):c.3605G>A (p.Cys1202Tyr)	rs727503170
NM_000256.3(MYBPC3):c.3735del (p.Phe1246fs)	rs397516038
NM_000256.3(MYBPC3):c.3764CCA[1] (p.Thr1256del)	rs397516040
NM_000256.3(MYBPC3):c.3815-1G>A	rs397516044
NM_000256.3(MYBPC3):c.3825A>G (p.Ter1275Trp)	rs727504380
NM_000256.3(MYBPC3):c.505+5G>C	rs727503219
NM_000256.3(MYBPC3):c.622C>T (p.Gln208Ter)	rs1595849603
NM_000256.3(MYBPC3):c.655G>C (p.Val219Leu)	rs397516068
NM_000256.3(MYBPC3):c.773-2A>T	rs1595848628
NM_000256.3(MYBPC3):c.821+5G>A	rs397516077
NM_000256.3(MYBPC3):c.927-10C>A	rs201078659

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