ClinVar Miner

List of variants reported as uncertain significance for autosomal recessive limb-girdle muscular dystrophy type 2C by Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1
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HGVS dbSNP gnomAD frequency
NM_000231.3(SGCG):c.613_614delinsTT (p.Ala205Phe) rs1883002814

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