ClinVar Miner

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

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000231.3(SGCG):c.787G>A (p.Glu263Lys) rs104894423 0.00016
NM_000231.3(SGCG):c.87dup (p.Gly30fs) rs762777463 0.00001
NM_000231.3(SGCG):c.525del (p.Phe175fs) rs786204786
NM_000231.3(SGCG):c.800_801del (p.Cys267fs) rs780348174
NM_000231.3(SGCG):c.801_802del (p.Pro268fs) rs2137534216
NM_000231.3(SGCG):c.848G>A (p.Cys283Tyr) rs104894422

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