ClinVar Miner

List of variants reported as likely pathogenic for Hydrocephalus, congenital, 2, with or without brain or eye anomalies

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Total variants: 2
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HGVS dbSNP
NM_000016.5(ACADM):c.698T>C (p.Ile233Thr) rs770273135
NM_003829.4(MPDZ):c.4906C>T (p.Arg1636Ter) rs797045095

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