ClinVar Miner

List of variants reported as pathogenic for autosomal recessive limb-girdle muscular dystrophy type 2C by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (1):

Autosomal recessive limb-girdle muscular dystrophy type 2C

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000231.3(SGCG):c.195+4_195+7del	rs797045106
NM_000231.3(SGCG):c.496C>T (p.Arg166Ter)	rs1881219252
NM_000231.3(SGCG):c.525del (p.Phe175fs)	rs786204786

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