ClinVar Miner

List of variants in gene SGCA reported as uncertain significance for Autosomal recessive limb-girdle muscular dystrophy

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)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000023.4(SGCA):c.661C>T (p.Arg221Cys)	rs748936034	0.00004
NM_000023.4(SGCA):c.1153_1163del (p.Asp385fs)	rs1487379783

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