ClinVar Miner

List of variants reported as uncertain significance for Dilated cardiomyopathy 1X; 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

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Total variants: 1

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HGVS	dbSNP	gnomAD frequency
NM_001079802.2(FKTN):c.506A>G (p.His169Arg)

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