List of variants in gene MYBPC1 reported as pathogenic for hereditary skeletal muscle disorder

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_002465.4(MYBPC1):c.739T>C (p.Tyr247His)	rs1593846841
NM_002465.4(MYBPC1):c.742G>A (p.Glu248Lys)	rs564856283
NM_002465.4(MYBPC1):c.776T>C (p.Leu259Pro)	rs1421405659
NM_002465.4(MYBPC1):c.788T>G (p.Leu263Arg)	rs1565943228

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