ClinVar Miner

List of variants in gene combination CAPN3, LOC130056921 reported as likely pathogenic for Autosomal recessive limb-girdle muscular dystrophy type 2A

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000070.3(CAPN3):c.1381C>T (p.Arg461Cys)	rs1274808359	0.00001
NM_000070.3(CAPN3):c.1395GGA[2] (p.Glu467del)	rs746075428

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