ClinVar Miner

List of variants in gene combination FNTA, HOOK3, MIR4469, POMK, RNF170, THAP1 reported as uncertain significance for Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12; Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 12

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Total variants: 1
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HGVS dbSNP
NC_000008.10:g.(?_42693095)_(42978030_?)dup

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