ClinVar Miner

List of variants in gene KCNQ1 studied for Polyhydramnios; High palate; Generalized hypotonia; Neonatal hypotonia; Decreased fetal movement; Toe clinodactyly; Abnormality of the cerebral white matter; Abnormality of the nares; Postnatal microcephaly; Diffuse white matter abnormalities; Generalized neonatal hypotonia; Enlarged naris; Congenital microcephaly

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Total variants: 1
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NM_000218.2(KCNQ1):c.1085A>G (p.Lys362Arg) rs12720458

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