ClinVar Miner

List of variants studied for autosomal recessive limb-girdle muscular dystrophy type 2C by Pars Genome Lab

Included ClinVar conditions (1):
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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000231.3(SGCG):c.312T>G (p.Leu104=) rs1800351 0.47318
NM_000231.3(SGCG):c.228T>C (p.Asp76=) rs1800350 0.15152
NM_000231.3(SGCG):c.297+63A>C rs4769246 0.14951
NM_000231.3(SGCG):c.386-30A>G rs66844808 0.10864
NM_000231.3(SGCG):c.347G>A (p.Arg116His) rs17314986 0.09986
NM_000231.3(SGCG):c.505+83G>T rs17374896 0.08156

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