ClinVar Miner

List of variants studied for Autosomal recessive limb-girdle muscular dystrophy type 2A by Genome Diagnostics Laboratory, University Medical Center Utrecht

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_000070.3(CAPN3):c.706G>A (p.Ala236Thr) rs1801449 0.22429
NM_000070.3(CAPN3):c.2380+12del rs28364538 0.04623

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