ClinVar Miner

List of variants studied for autosomal recessive limb-girdle muscular dystrophy type 2C by Genomic Research Center, Shahid Beheshti University of Medical Sciences

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_000231.3(SGCG):c.653T>C (p.Ile218Thr) rs202045534 0.00011
NM_000231.3(SGCG):c.690T>A (p.Ser230Arg) rs875989949

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