ClinVar Miner

List of variants reported as uncertain significance for cerebellar ataxia, intellectual disability, and dysequilibrium by New York Genome Center

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001163809.2(WDR81):c.4778T>C (p.Leu1593Pro) rs149405514 0.00015
NM_016529.6(ATP8A2):c.2896A>G (p.Ile966Val) rs202061089 0.00013
NM_001163809.2(WDR81):c.2494G>A (p.Glu832Lys) rs928788426 0.00003
NM_001163809.2(WDR81):c.5179+6C>T rs748777672 0.00001
NM_016529.6(ATP8A2):c.1976G>A (p.Arg659Gln) rs566960742 0.00001
NM_001163809.2(WDR81):c.1045G>C (p.Val349Leu) rs150798889

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