ClinVar Miner

List of variants reported as pathogenic for cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001163809.2(WDR81):c.2567C>T (p.Pro856Leu) rs587776906 0.00007
NM_001163809.2(WDR81):c.3997C>T (p.Arg1333Ter) rs138358708 0.00001
NM_001163809.2(WDR81):c.5335C>T (p.Arg1779Ter) rs762607878 0.00001
NM_001163809.2(WDR81):c.2698G>T (p.Glu900Ter)
NM_001163809.2(WDR81):c.3286C>T (p.Gln1096Ter) rs770279237
NM_001163809.2(WDR81):c.3771T>G (p.Tyr1257Ter) rs1484029774
NM_001163809.2(WDR81):c.3843C>A (p.Tyr1281Ter) rs2151169266

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