ClinVar Miner

List of variants reported as benign 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 Athena Diagnostics

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Total variants: 1
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HGVS dbSNP gnomAD frequency
NM_001079802.2(FKTN):c.608G>A (p.Arg203Gln) rs34787999 0.25357

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