ClinVar Miner

List of variants reported as uncertain significance for Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2; Hydrocephalus, congenital, 3, with brain anomalies

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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.4778T>C (p.Leu1593Pro) rs149405514 0.00015
NM_001163809.2(WDR81):c.2494G>A (p.Glu832Lys) rs928788426 0.00003
NM_001163809.2(WDR81):c.5179+6C>T rs748777672 0.00001
NM_001163809.2(WDR81):c.1045G>C (p.Val349Leu) rs150798889

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