ClinVar Miner

List of variants reported as likely pathogenic for Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2; Autosomal recessive limb-girdle muscular dystrophy type 2N by Fulgent Genetics, Fulgent Genetics

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Total variants: 1

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HGVS	dbSNP	gnomAD frequency
NM_013382.7(POMT2):c.1261C>T (p.Arg421Trp)	rs727502855	0.00002

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