ClinVar Miner

List of variants studied for autosomal recessive limb-girdle muscular dystrophy type 2C by Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili

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.167G>A (p.Trp56Ter) rs1351510337

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