List of variants in gene WDR62 studied for Inborn genetic diseases

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 90

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001083961.2(WDR62):c.3812C>T (p.Ala1271Val)	rs111294536	0.00310
NM_001083961.2(WDR62):c.2211-4G>A	rs202109439	0.00096
NM_001083961.2(WDR62):c.922A>G (p.Ile308Val)	rs146229976	0.00070
NM_001083961.2(WDR62):c.4564G>A (p.Gly1522Arg)	rs142600079	0.00053
NM_001083961.2(WDR62):c.203T>C (p.Ile68Thr)	rs148615988	0.00031
NM_001083961.2(WDR62):c.2873A>T (p.Tyr958Phe)	rs376554781	0.00031
NM_001083961.2(WDR62):c.3248T>C (p.Val1083Ala)	rs143600070	0.00026
NM_001083961.2(WDR62):c.4549C>T (p.Arg1517Trp)	rs373621531	0.00025
NM_001083961.2(WDR62):c.1576G>A (p.Glu526Lys)	rs147875659	0.00022
NM_001083961.2(WDR62):c.4312T>A (p.Leu1438Met)	rs138814793	0.00019
NM_001083961.2(WDR62):c.824C>T (p.Ser275Leu)	rs202014178	0.00014
NM_001083961.2(WDR62):c.10G>C (p.Val4Leu)	rs147077663	0.00012
NM_001083961.2(WDR62):c.328G>A (p.Ala110Thr)	rs200316266	0.00011
NM_001083961.2(WDR62):c.4546G>A (p.Val1516Met)	rs369708392	0.00009
NM_001083961.2(WDR62):c.2765G>A (p.Arg922His)	rs749718711	0.00007
NM_001083961.2(WDR62):c.1480G>A (p.Gly494Arg)	rs587784543	0.00006
NM_001083961.2(WDR62):c.3302C>T (p.Thr1101Met)	rs147484315	0.00005
NM_001083961.2(WDR62):c.2227C>T (p.His743Tyr)	rs142313818	0.00004
NM_001083961.2(WDR62):c.3368A>C (p.Gln1123Pro)	rs144233940	0.00004
NM_001083961.2(WDR62):c.4307G>A (p.Arg1436His)	rs146018199	0.00004
NM_001083961.2(WDR62):c.791G>A (p.Arg264Gln)	rs765050364	0.00004
NM_001083961.2(WDR62):c.1007A>G (p.Tyr336Cys)	rs749070653	0.00003
NM_001083961.2(WDR62):c.3412G>A (p.Gly1138Arg)	rs750117864	0.00003
NM_001083961.2(WDR62):c.3469G>A (p.Ala1157Thr)	rs144347678	0.00003
NM_001083961.2(WDR62):c.2276T>C (p.Ile759Thr)	rs1489369893	0.00002
NM_001083961.2(WDR62):c.1627T>G (p.Ser543Ala)	rs141895633	0.00001
NM_001083961.2(WDR62):c.1709A>G (p.Tyr570Cys)	rs761202940	0.00001
NM_001083961.2(WDR62):c.1841C>T (p.Ser614Leu)	rs4805157	0.00001
NM_001083961.2(WDR62):c.2527G>T (p.Asp843Tyr)	rs370738148	0.00001
NM_001083961.2(WDR62):c.2729T>A (p.Leu910Gln)	rs911479602	0.00001
NM_001083961.2(WDR62):c.3209C>T (p.Ser1070Phe)	rs773422974	0.00001
NM_001083961.2(WDR62):c.3559G>A (p.Val1187Met)	rs587784557	0.00001
NM_001083961.2(WDR62):c.3749G>A (p.Arg1250His)	rs201421606	0.00001
NM_001083961.2(WDR62):c.4499A>G (p.Asp1500Gly)	rs771866189	0.00001
NM_001083961.2(WDR62):c.4561C>T (p.Arg1521Trp)	rs748425985	0.00001
NM_001083961.2(WDR62):c.118A>G (p.Ile40Val)
NM_001083961.2(WDR62):c.1233+3_1233+4insGGGGGGGGGG
NM_001083961.2(WDR62):c.136A>C (p.Thr46Pro)
NM_001083961.2(WDR62):c.1457G>A (p.Gly486Glu)
NM_001083961.2(WDR62):c.152C>A (p.Ala51Asp)
NM_001083961.2(WDR62):c.1569C>G (p.Phe523Leu)
NM_001083961.2(WDR62):c.1638G>C (p.Glu546Asp)
NM_001083961.2(WDR62):c.1742C>T (p.Ser581Phe)
NM_001083961.2(WDR62):c.1879G>A (p.Glu627Lys)
NM_001083961.2(WDR62):c.2141A>G (p.His714Arg)
NM_001083961.2(WDR62):c.2237C>G (p.Pro746Arg)
NM_001083961.2(WDR62):c.2575C>T (p.Gln859Ter)	rs1006898944
NM_001083961.2(WDR62):c.2750C>T (p.Pro917Leu)
NM_001083961.2(WDR62):c.2828A>G (p.Tyr943Cys)
NM_001083961.2(WDR62):c.2939C>G (p.Ser980Cys)
NM_001083961.2(WDR62):c.2941G>A (p.Asp981Asn)
NM_001083961.2(WDR62):c.2963C>T (p.Pro988Leu)
NM_001083961.2(WDR62):c.3010G>C (p.Ala1004Pro)
NM_001083961.2(WDR62):c.3019C>T (p.His1007Tyr)
NM_001083961.2(WDR62):c.3032C>T (p.Pro1011Leu)
NM_001083961.2(WDR62):c.3083-6T>C
NM_001083961.2(WDR62):c.3124G>T (p.Gly1042Ter)
NM_001083961.2(WDR62):c.3133G>A (p.Val1045Ile)
NM_001083961.2(WDR62):c.3211C>T (p.Pro1071Ser)
NM_001083961.2(WDR62):c.3236C>T (p.Ala1079Val)
NM_001083961.2(WDR62):c.3247G>A (p.Val1083Met)	rs375274868
NM_001083961.2(WDR62):c.3247G>C (p.Val1083Leu)	rs375274868
NM_001083961.2(WDR62):c.3271_3273del (p.His1091del)	rs794727435
NM_001083961.2(WDR62):c.3276C>G (p.Phe1092Leu)	rs551013571
NM_001083961.2(WDR62):c.3451G>C (p.Asp1151His)
NM_001083961.2(WDR62):c.3505C>T (p.Arg1169Cys)
NM_001083961.2(WDR62):c.3512C>T (p.Pro1171Leu)
NM_001083961.2(WDR62):c.3641C>T (p.Thr1214Ile)	rs752898108
NM_001083961.2(WDR62):c.3653T>C (p.Met1218Thr)
NM_001083961.2(WDR62):c.3715G>C (p.Gly1239Arg)
NM_001083961.2(WDR62):c.3748C>G (p.Arg1250Gly)	rs755558753
NM_001083961.2(WDR62):c.3764T>C (p.Val1255Ala)
NM_001083961.2(WDR62):c.3896T>C (p.Leu1299Pro)
NM_001083961.2(WDR62):c.4006G>A (p.Ala1336Thr)	rs150966716
NM_001083961.2(WDR62):c.4021G>A (p.Gly1341Ser)
NM_001083961.2(WDR62):c.4034G>A (p.Arg1345His)
NM_001083961.2(WDR62):c.4106G>A (p.Arg1369Gln)
NM_001083961.2(WDR62):c.4144C>G (p.Pro1382Ala)
NM_001083961.2(WDR62):c.4255A>T (p.Asn1419Tyr)
NM_001083961.2(WDR62):c.4264C>G (p.His1422Asp)
NM_001083961.2(WDR62):c.4352C>G (p.Ala1451Gly)
NM_001083961.2(WDR62):c.435G>T (p.Lys145Asn)
NM_001083961.2(WDR62):c.4383G>C (p.Trp1461Cys)
NM_001083961.2(WDR62):c.4463C>T (p.Pro1488Leu)	rs572570068
NM_001083961.2(WDR62):c.4475C>T (p.Thr1492Met)
NM_001083961.2(WDR62):c.4553G>C (p.Arg1518Thr)
NM_001083961.2(WDR62):c.644C>A (p.Thr215Asn)
NM_001083961.2(WDR62):c.781G>A (p.Gly261Ser)
NM_001083961.2(WDR62):c.908T>A (p.Val303Asp)
NM_001083961.2(WDR62):c.949G>C (p.Val317Leu)

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.