ClinVar Miner

List of variants in gene WDR81 studied for congenital hydrocephalus

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_001163809.2(WDR81):c.4971A>G (p.Leu1657=) rs3809872 0.73341
NM_001163809.2(WDR81):c.4743A>G (p.Pro1581=) rs3809871 0.53472
NM_001163809.2(WDR81):c.5506-19C>G rs62090051 0.23717
NM_001163809.2(WDR81):c.*56A>G rs2287322 0.22860
NM_001163809.2(WDR81):c.5127G>A (p.Pro1709=) rs8065251 0.22229
NM_001163809.2(WDR81):c.2739G>A (p.Leu913=) rs9912287 0.21861
NM_001163809.2(WDR81):c.5640C>T (p.Ser1880=) rs8077638 0.21643
NM_001163809.2(WDR81):c.3532G>A (p.Ala1178Thr) rs151330612 0.00121
NM_001163809.2(WDR81):c.487A>G (p.Ser163Gly) rs1033460417 0.00019
NM_001163809.2(WDR81):c.2304C>T (p.His768=) rs994508298 0.00016
NM_001163809.2(WDR81):c.4778T>C (p.Leu1593Pro) rs149405514 0.00015
NM_001163809.2(WDR81):c.2051A>C (p.Gln684Pro) rs748793270 0.00013
NM_001163809.2(WDR81):c.2567C>T (p.Pro856Leu) rs587776906 0.00007
NM_001163809.2(WDR81):c.2494G>A (p.Glu832Lys) rs928788426 0.00003
NM_001163809.2(WDR81):c.4396C>T (p.Arg1466Trp) rs779319855 0.00003
NM_001163809.2(WDR81):c.5607C>T (p.Ser1869=) rs760895795 0.00002
NM_001163809.2(WDR81):c.1604G>A (p.Arg535His) rs563732828 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.1366C>T (p.Arg456Trp) rs1404957058
NM_001163809.2(WDR81):c.2980C>T (p.Arg994Trp)
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
NM_001163809.2(WDR81):c.5556C>T (p.Thr1852=) rs1045794
NM_001163809.2(WDR81):c.838_852del (p.Ala280_Leu284del)
NM_001163809.2(WDR81):c.845G>A (p.Gly282Glu) rs730882206

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