ClinVar Miner

List of variants studied for autosomal recessive limb-girdle muscular dystrophy type 2A by Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1
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HGVS dbSNP gnomAD frequency
NM_000070.3(CAPN3):c.679G>C (p.Ala227Pro) rs1595822648

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