ClinVar Miner

List of variants in gene WDR81 reported as uncertain significance for cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 24
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001163809.2(WDR81):c.3532G>A (p.Ala1178Thr) rs151330612 0.00121
NM_001163809.2(WDR81):c.3115G>A (p.Ala1039Thr) rs369748157 0.00061
NM_001163809.2(WDR81):c.1072A>G (p.Ser358Gly) rs780969097 0.00020
NM_001163809.2(WDR81):c.4778T>C (p.Leu1593Pro) rs149405514 0.00015
NM_001163809.2(WDR81):c.5314C>T (p.Pro1772Ser) rs144021458 0.00006
NM_001163809.2(WDR81):c.5659G>A (p.Val1887Met) rs200284291 0.00005
NM_001163809.2(WDR81):c.2494G>A (p.Glu832Lys) rs928788426 0.00003
NM_001163809.2(WDR81):c.5027C>T (p.Pro1676Leu) rs746252411 0.00002
NM_001163809.2(WDR81):c.826C>T (p.Arg276Cys) rs886540540 0.00002
NM_001163809.2(WDR81):c.1474A>C (p.Ile492Leu) rs992608564 0.00001
NM_001163809.2(WDR81):c.1907C>A (p.Pro636Gln) rs1203128651 0.00001
NM_001163809.2(WDR81):c.3085G>A (p.Ala1029Thr) rs766140596 0.00001
NM_001163809.2(WDR81):c.5179+6C>T rs748777672 0.00001
NM_001163809.2(WDR81):c.1045G>C (p.Val349Leu) rs150798889
NM_001163809.2(WDR81):c.1157T>C (p.Val386Ala) rs1915232687
NM_001163809.2(WDR81):c.1735G>A (p.Gly579Arg)
NM_001163809.2(WDR81):c.1950C>G (p.Asp650Glu) rs1915315281
NM_001163809.2(WDR81):c.2051A>G (p.Gln684Arg) rs748793270
NM_001163809.2(WDR81):c.2980C>T (p.Arg994Trp)
NM_001163809.2(WDR81):c.3854C>T (p.Pro1285Leu) rs199995527
NM_001163809.2(WDR81):c.482C>T (p.Pro161Leu) rs374149596
NM_001163809.2(WDR81):c.5018G>A (p.Arg1673His)
NM_001163809.2(WDR81):c.5248G>C (p.Ala1750Pro) rs150784268
NM_001163809.2(WDR81):c.838_852del (p.Ala280_Leu284del)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.