ClinVar Miner

List of variants reported as likely pathogenic for Autosomal recessive limb-girdle muscular dystrophy type 2A by Baylor Genetics

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000070.3(CAPN3):c.338T>C (p.Ile113Thr)	rs747026964	0.00015
NM_000070.3(CAPN3):c.1076C>T (p.Pro359Leu)	rs794727895
NM_000070.3(CAPN3):c.290dup (p.Val98fs)	rs1595794433

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