List of variants in gene combination LOC130062084, SMCHD1 reported as uncertain significance 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_015295.3(SMCHD1):c.176G>T (p.Cys59Phe)	rs1469724104	0.00001
NC_000018.9:g.(?_2656055)_(2656280_?)dup
NM_015295.3(SMCHD1):c.185A>G (p.Gln62Arg)
NM_015295.3(SMCHD1):c.186+6C>G

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