ClinVar Miner

List of variants studied for Hydrocephalus, nonsyndromic, autosomal recessive 2 by Genome-Nilou Lab

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001378778.1(MPDZ):c.1804-26G>C rs1331676 0.98425
NM_001378778.1(MPDZ):c.4807+14A>G rs2297003 0.61011
NM_001378778.1(MPDZ):c.1074A>G (p.Thr358=) rs13297480 0.14798

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