ClinVar Miner

List of variants reported as uncertain significance for cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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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.2095C>T (p.Arg699Cys)
NM_001163809.2(WDR81):c.2179C>T (p.Pro727Ser)
NM_001163809.2(WDR81):c.4300C>G (p.Gln1434Glu)

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