ClinVar Miner

List of variants reported for Polyhydramnios; High palate; Generalized hypotonia; Neonatal hypotonia; Decreased fetal movement; Toe clinodactyly; Abnormal cerebral white matter morphology; Abnormal nostril morphology; Secondary microcephaly; Diffuse white matter abnormalities; Generalized neonatal hypotonia; Enlarged naris; Primary microcephaly by Center for Personalized Medicine, Children's Hospital Los Angeles

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000218.3(KCNQ1):c.1085A>G (p.Lys362Arg)	rs12720458	0.00001
NM_000252.3(MTM1):c.1262G>T (p.Arg421Leu)	rs587783772

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