ClinVar Miner

List of variants studied for Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4; Autosomal recessive limb-girdle muscular dystrophy type 2M; Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 by Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center

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Total variants: 1
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HGVS dbSNP gnomAD frequency
NM_001079802.2(FKTN):c.607C>T (p.Arg203Ter) rs746763506 0.00001

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