List of variants in gene MYBPC3 reported as pathogenic by Human Genome Sequencing Center Clinical Lab, Baylor College of 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: 12

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HGVS	dbSNP	gnomAD frequency
NM_000256.3(MYBPC3):c.1504C>T (p.Arg502Trp)	rs375882485	0.00009
NM_000256.3(MYBPC3):c.1624G>C (p.Glu542Gln)	rs121909374	0.00006
NM_000256.3(MYBPC3):c.3330+2T>G	rs387906397	0.00004
NM_000256.3(MYBPC3):c.772G>A (p.Glu258Lys)	rs397516074	0.00004
NM_000256.3(MYBPC3):c.26-2A>G	rs376395543	0.00002
NM_000256.3(MYBPC3):c.655G>C (p.Val219Leu)	rs397516068	0.00002
NM_000256.3(MYBPC3):c.927-9G>A	rs397516083	0.00002
NM_000256.3(MYBPC3):c.3286G>T (p.Glu1096Ter)	rs121909377	0.00001
NM_000256.3(MYBPC3):c.821+1G>A	rs397516073	0.00001
NC_000011.10:g.47332110del	rs727503166
NC_000011.10:g.47347670del	rs727503212
NM_000256.3(MYBPC3):c.177_187del (p.Glu60fs)	rs397515925

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