ClinVar Miner

List of variants in gene WDR62 reported as pathogenic for autosomal recessive disease

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 36
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001083961.2(WDR62):c.1576G>A (p.Glu526Lys) rs147875659 0.00022
NM_001083961.2(WDR62):c.1043+3A>G rs587784541 0.00009
NM_001083961.2(WDR62):c.1521G>A (p.Leu507=) rs778207666 0.00002
NM_001083961.2(WDR62):c.1941C>A (p.Cys647Ter) rs769688376 0.00002
NM_001083961.2(WDR62):c.3514+1G>A rs199736219 0.00002
NM_001083961.2(WDR62):c.1313G>A (p.Arg438His) rs387907082 0.00001
NM_001083961.2(WDR62):c.1531G>A (p.Asp511Asn) rs387907083 0.00001
NM_001083961.2(WDR62):c.363del (p.Asp122fs) rs587776901 0.00001
NM_001083961.2(WDR62):c.1175_1200dup (p.Leu401fs)
NM_001083961.2(WDR62):c.1234-1G>A rs2145706114
NM_001083961.2(WDR62):c.1408C>T (p.Gln470Ter) rs267607177
NM_001083961.2(WDR62):c.1576G>T (p.Glu526Ter) rs147875659
NM_001083961.2(WDR62):c.1605dup (p.Glu536Ter)
NM_001083961.2(WDR62):c.1821dup (p.Arg608fs) rs1213710245
NM_001083961.2(WDR62):c.193G>A (p.Val65Met) rs387907084
NM_001083961.2(WDR62):c.198_201dup (p.Ile68fs) rs2145516989
NM_001083961.2(WDR62):c.2084_2090dup (p.Ser698fs) rs587784546
NM_001083961.2(WDR62):c.2086del (p.Ser696fs) rs863223322
NM_001083961.2(WDR62):c.250dup (p.His84fs) rs1234259290
NM_001083961.2(WDR62):c.2588G>A (p.Arg863His)
NM_001083961.2(WDR62):c.2655C>G (p.Tyr885Ter) rs587784549
NM_001083961.2(WDR62):c.2746_2747del (p.Gln918fs) rs764201220
NM_001083961.2(WDR62):c.2788C>T (p.Gln930Ter) rs1599841026
NM_001083961.2(WDR62):c.2984C>G (p.Ser995Ter)
NM_001083961.2(WDR62):c.3012_3034dup (p.Pro1012fs) rs1555723585
NM_001083961.2(WDR62):c.332+1G>A rs587784553
NM_001083961.2(WDR62):c.3383_3401del (p.Ser1128fs) rs775357840
NM_001083961.2(WDR62):c.3469_3470del (p.Ala1157fs) rs2145874989
NM_001083961.2(WDR62):c.3731_3740del (p.Thr1244fs)
NM_001083961.2(WDR62):c.3839_3855del (p.Gly1280fs) rs397704725
NM_001083961.2(WDR62):c.3863G>A (p.Trp1288Ter)
NM_001083961.2(WDR62):c.3936dup (p.Val1313fs) rs587776900
NM_001083961.2(WDR62):c.4205_4208del (p.Val1402fs) rs397704721
NM_001083961.2(WDR62):c.4241dup (p.Ser1415fs) rs587776899
NM_001083961.2(WDR62):c.669del (p.Trp224fs) rs1599760058
NM_001083961.2(WDR62):c.671G>C (p.Trp224Ser) rs267607176

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.