ClinVar Miner

List of variants reported for Hydrocephalus, nonsyndromic, autosomal recessive 2 by Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_001378778.1(MPDZ):c.1972C>T (p.His658Tyr) rs368581522 0.00001
NM_001378778.1(MPDZ):c.6007_6013dup (p.Tyr2005fs) rs1586841546

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