List of variants in gene combination SCO2, TYMP reported as uncertain significance for hereditary skeletal muscle disorder

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: 5

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HGVS	dbSNP	gnomAD frequency
NM_001953.5(TYMP):c.1443G>A (p.Gln481=)	rs377497287	0.00030
NM_001953.5(TYMP):c.*10G>A	rs369012029	0.00011
NM_001953.5(TYMP):c.*3C>T	rs372620403	0.00011
NM_001953.5(TYMP):c.1441C>T (p.Gln481Ter)	rs200735968	0.00011
NM_001953.5(TYMP):c.1444C>T (p.Gln482Ter)

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