List of variants in gene MYBPC3 reported as pathogenic by Molecular Genetics, Royal Melbourne Hospital

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: 7

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HGVS	dbSNP	gnomAD frequency
NM_000256.3(MYBPC3):c.1505G>A (p.Arg502Gln)	rs397515907	0.00003
NM_000256.3(MYBPC3):c.1224-52G>A	rs786204336	0.00002
NM_000256.3(MYBPC3):c.1227-13G>A	rs397515893	0.00001
NM_000256.3(MYBPC3):c.1928-2A>G	rs397515937	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.1308C>A (p.Cys436Ter)	rs759826878

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