ClinVar Miner

List of variants reported as benign for autosomal recessive limb-girdle muscular dystrophy type 2C by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Included ClinVar conditions (1):

Autosomal recessive limb-girdle muscular dystrophy type 2C

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Minimum conflict level: Report conflict between different conditions
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.860A>G (p.Asn287Ser)	rs1800354	0.83747
NM_000231.3(SGCG):c.347G>A (p.Arg116His)	rs17314986	0.09986
NM_000231.3(SGCG):c.*10G>A	rs139369964	0.00794

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