ClinVar Miner

List of variants in gene MUSK reported as not provided for Fetal akinesia deformation sequence 1; Congenital myasthenic syndrome 9

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_005592.4(MUSK):c.665A>G (p.Asn222Ser) rs55826142 0.00116
NM_005592.4(MUSK):c.1360G>A (p.Asp454Asn) rs202239254 0.00001
NM_005592.4(MUSK):c.1874G>A (p.Arg625Lys) rs2077900685

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