ClinVar Miner

List of variants reported as likely pathogenic for autosomal recessive limb-girdle muscular dystrophy type 2A by Medical Genetics and Mitochondrial Research group, Latvian Biomedical Research and Study center

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.643T>C (p.Ser215Pro) rs2053478068

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