ClinVar Miner

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

Included ClinVar conditions (1):
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Total variants: 12
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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.703-53C>T rs9510700 0.77702
NM_000231.3(SGCG):c.705T>C (p.Leu235=) rs1800353 0.60006
NM_000231.3(SGCG):c.579-28T>G rs1536727 0.42785
NM_000231.3(SGCG):c.579-32T>G rs1536725 0.39650
NM_000231.3(SGCG):c.653T>C (p.Ile218Thr) rs202045534 0.00011
NM_000231.3(SGCG):c.101G>A (p.Arg34His) rs755404457 0.00005
NM_000231.3(SGCG):c.267A>G (p.Pro89=) rs149595403 0.00001
NM_000231.3(SGCG):c.547C>T (p.Leu183Phe) rs1425113474 0.00001
NM_000231.3(SGCG):c.579-24T>G rs1536729
NM_000231.3(SGCG):c.579-26T>G rs1536728
NM_000231.3(SGCG):c.740T>C (p.Leu247Pro) rs2137534069

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