List of variants in gene combination LOC126861897, MHRT, MYH7 reported as likely 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: 5

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HGVS	dbSNP	gnomAD frequency
NM_000257.4(MYH7):c.5135G>A (p.Arg1712Gln)	rs193922390	0.00002
NM_000257.4(MYH7):c.4807G>C (p.Ala1603Pro)	rs730880809
NM_000257.4(MYH7):c.5042T>C (p.Leu1681Pro)
NM_000257.4(MYH7):c.5158-16C>G
NM_000257.4(MYH7):c.5168T>C (p.Leu1723Pro)

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