ClinVar Miner

List of variants studied for Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2; Hydrocephalus, congenital, 3, with brain anomalies by Fulgent Genetics, Fulgent Genetics

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001163809.2(WDR81):c.3532G>A (p.Ala1178Thr) rs151330612 0.00121
NM_001163809.2(WDR81):c.2304C>T (p.His768=) rs994508298 0.00016
NM_001163809.2(WDR81):c.2567C>T (p.Pro856Leu) rs587776906 0.00007
NM_001163809.2(WDR81):c.5607C>T (p.Ser1869=) rs760895795 0.00002
NM_001163809.2(WDR81):c.1604G>A (p.Arg535His) rs563732828 0.00001

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