List of variants in gene WFS1 reported as uncertain significance for Autosomal dominant nonsyndromic hearing loss 6

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 109

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HGVS	dbSNP	gnomAD frequency
NM_006005.3(WFS1):c.*448A>T	rs113513950	0.00076
NM_006005.3(WFS1):c.1597C>T (p.Pro533Ser)	rs146132083	0.00076
NM_006005.3(WFS1):c.*520G>A	rs573433508	0.00048
NM_006005.3(WFS1):c.2424C>T (p.Ser808=)	rs56035336	0.00048
NM_006005.3(WFS1):c.*300A>G	rs541125786	0.00029
NM_006005.3(WFS1):c.1024G>A (p.Ala342Thr)	rs148028521	0.00029
NM_006005.3(WFS1):c.1079G>A (p.Cys360Tyr)	rs147157374	0.00029
NM_006005.3(WFS1):c.1265C>T (p.Ala422Val)	rs150368988	0.00029
NM_006005.3(WFS1):c.2436C>T (p.Ser812=)	rs142630687	0.00028
NM_006005.3(WFS1):c.1235T>C (p.Val412Ala)	rs144951440	0.00027
NM_006005.3(WFS1):c.*455A>G	rs756674774	0.00023
NM_006005.3(WFS1):c.1957C>T (p.Arg653Cys)	rs201064551	0.00022
NM_006005.3(WFS1):c.2053C>T (p.Arg685Cys)	rs112967046	0.00021
NM_006005.3(WFS1):c.2667G>A (p.Ala889=)	rs71526454	0.00015
NM_006005.3(WFS1):c.400G>A (p.Ala134Thr)	rs147724970	0.00015
NM_006005.3(WFS1):c.1399C>T (p.Leu467=)	rs142700542	0.00014
NM_006005.3(WFS1):c.1831C>T (p.Arg611Cys)	rs144993516	0.00014
NM_006005.3(WFS1):c.71G>A (p.Arg24His)	rs71524364	0.00012
NM_006005.3(WFS1):c.728C>T (p.Ala243Val)	rs147147660	0.00012
NM_006005.3(WFS1):c.1969A>G (p.Met657Val)	rs71532861	0.00010
NM_006005.3(WFS1):c.2603G>A (p.Arg868His)	rs56393026	0.00010
NM_006005.3(WFS1):c.*654G>A	rs886059539	0.00007
NM_006005.3(WFS1):c.2119G>A (p.Val707Ile)	rs71524377	0.00007
NM_006005.3(WFS1):c.2347T>C (p.Phe783Leu)	rs71526461	0.00007
NM_006005.3(WFS1):c.*158G>A	rs548892128	0.00006
NM_006005.3(WFS1):c.1297G>A (p.Ala433Thr)	rs138771366	0.00006
NM_006005.3(WFS1):c.1580C>T (p.Thr527Ile)	rs372663248	0.00006
NM_006005.3(WFS1):c.1656C>T (p.Thr552=)	rs141477172	0.00006
NM_006005.3(WFS1):c.2026C>T (p.Arg676Cys)	rs201623184	0.00006
NM_006005.3(WFS1):c.2208C>T (p.Gly736=)	rs141020933	0.00006
NM_006005.3(WFS1):c.28C>T (p.Pro10Ser)	rs760256649	0.00006
NM_006005.3(WFS1):c.504C>T (p.Ser168=)	rs71537675	0.00006
NM_006005.3(WFS1):c.*605T>C	rs886059538	0.00005
NM_006005.3(WFS1):c.*506C>T	rs886059536	0.00004
NM_006005.3(WFS1):c.*700C>A	rs528424908	0.00004
NM_006005.3(WFS1):c.1180G>A (p.Glu394Lys)	rs373146435	0.00004
NM_006005.3(WFS1):c.1507G>A (p.Val503Ile)	rs573775230	0.00004
NM_006005.3(WFS1):c.168C>T (p.Asp56=)	rs112598170	0.00004
NM_006005.3(WFS1):c.2664G>A (p.Ser888=)	rs756116434	0.00004
NM_006005.3(WFS1):c.1263C>T (p.Ile421=)	rs748103155	0.00003
NM_006005.3(WFS1):c.1538A>C (p.Tyr513Ser)	rs544933961	0.00003
NM_006005.3(WFS1):c.1993A>C (p.Thr665Pro)	rs369656458	0.00003
NM_006005.3(WFS1):c.2011G>T (p.Ala671Ser)	rs763020615	0.00003
NM_006005.3(WFS1):c.2138A>G (p.Asp713Gly)	rs143280847	0.00003
NM_006005.3(WFS1):c.2225G>A (p.Cys742Tyr)	rs775216682	0.00003
NM_006005.3(WFS1):c.232G>A (p.Gly78Arg)	rs777964510	0.00003
NM_006005.3(WFS1):c.2371C>T (p.Arg791Cys)	rs200528166	0.00003
NM_006005.3(WFS1):c.95C>T (p.Ser32Leu)	rs727504730	0.00003
NM_006005.3(WFS1):c.176C>T (p.Ala59Val)	rs71524365	0.00002
NM_006005.3(WFS1):c.2125G>A (p.Val709Met)	rs761216725	0.00002
NM_006005.3(WFS1):c.2157C>T (p.Ala719=)	rs766900991	0.00002
NM_006005.3(WFS1):c.2246C>T (p.Thr749Met)	rs199769524	0.00002
NM_006005.3(WFS1):c.2453G>A (p.Arg818His)	rs575851859	0.00002
NM_006005.3(WFS1):c.2576G>A (p.Arg859Gln)	rs121912618	0.00002
NM_006005.3(WFS1):c.345C>T (p.Gly115=)	rs200385504	0.00002
NM_006005.3(WFS1):c.*11C>G	rs919707549	0.00001
NM_006005.3(WFS1):c.*14C>T	rs775493668	0.00001
NM_006005.3(WFS1):c.*223C>G	rs905909594	0.00001
NM_006005.3(WFS1):c.*258A>G	rs886059533	0.00001
NM_006005.3(WFS1):c.*37C>A	rs1312854010	0.00001
NM_006005.3(WFS1):c.*656C>T	rs772538455	0.00001
NM_006005.3(WFS1):c.1147C>T (p.Arg383Cys)	rs759466443	0.00001
NM_006005.3(WFS1):c.115G>A (p.Glu39Lys)	rs774330485	0.00001
NM_006005.3(WFS1):c.1846G>T (p.Ala616Ser)	rs553336498	0.00001
NM_006005.3(WFS1):c.1986C>T (p.Ser662=)	rs1055393876	0.00001
NM_006005.3(WFS1):c.2129C>G (p.Thr710Ser)	rs200136995	0.00001
NM_006005.3(WFS1):c.2285A>G (p.Lys762Arg)	rs876658119	0.00001
NM_006005.3(WFS1):c.2372G>A (p.Arg791His)	rs775659531	0.00001
NM_006005.3(WFS1):c.2454C>T (p.Arg818=)	rs139223980	0.00001
NM_006005.3(WFS1):c.2514T>C (p.Pro838=)	rs773643250	0.00001
NM_006005.3(WFS1):c.70C>T (p.Arg24Cys)	rs756667462	0.00001
NM_006005.3(WFS1):c.804C>T (p.Asp268=)	rs199741678	0.00001
NM_006005.3(WFS1):c.*260G>C	rs71530909
NM_006005.3(WFS1):c.*526A>C	rs886059537
NM_006005.3(WFS1):c.*553G>A	rs904935032
NM_006005.3(WFS1):c.-43G>C	rs1578579501
NM_006005.3(WFS1):c.-55C>G	rs886059525
NM_006005.3(WFS1):c.1099G>A (p.Asp367Asn)	rs886059528
NM_006005.3(WFS1):c.1134C>G (p.Thr378=)	rs71530904
NM_006005.3(WFS1):c.1167T>G (p.Asp389Glu)	rs201282601
NM_006005.3(WFS1):c.1311C>T (p.Gly437=)	rs886059529
NM_006005.3(WFS1):c.132C>T (p.Pro44=)	rs754346893
NM_006005.3(WFS1):c.1333C>G (p.Leu445Val)	rs764932308
NM_006005.3(WFS1):c.1419_1427del (p.Met474_Leu476del)
NM_006005.3(WFS1):c.1509C>T (p.Val503=)	rs1267751619
NM_006005.3(WFS1):c.1636G>A (p.Val546Ile)	rs774355691
NM_006005.3(WFS1):c.1739T>A (p.Val580Glu)	rs140773453
NM_006005.3(WFS1):c.1799C>T (p.Thr600Ile)	rs886059530
NM_006005.3(WFS1):c.2030C>T (p.Ala677Val)	rs1730936563
NM_006005.3(WFS1):c.2045A>G (p.Asn682Ser)	rs2474195788
NM_006005.3(WFS1):c.2135T>C (p.Ile712Thr)	rs1730943627
NM_006005.3(WFS1):c.2298C>A (p.His766Gln)	rs755328574
NM_006005.3(WFS1):c.2315G>A (p.Arg772His)	rs758646445
NM_006005.3(WFS1):c.2340C>A (p.Gly780=)	rs886059531
NM_006005.3(WFS1):c.2356G>T (p.Gly786Cys)	rs71578980
NM_006005.3(WFS1):c.2406C>G (p.Ile802Met)	rs201102144
NM_006005.3(WFS1):c.2459G>A (p.Gly820Asp)	rs764842865
NM_006005.3(WFS1):c.2466C>T (p.Leu822=)	rs141669724
NM_006005.3(WFS1):c.2481C>T (p.Thr827=)	rs886059532
NM_006005.3(WFS1):c.2503A>T (p.Ser835Cys)
NM_006005.3(WFS1):c.2530G>A (p.Ala844Thr)
NM_006005.3(WFS1):c.255A>T (p.Glu85Asp)	rs2474168077
NM_006005.3(WFS1):c.2580C>T (p.His860=)	rs754802246
NM_006005.3(WFS1):c.2595C>A (p.His865Gln)	rs142469572
NM_006005.3(WFS1):c.445T>C (p.Leu149=)	rs1730394064
NM_006005.3(WFS1):c.654C>T (p.Pro218=)	rs727504666
NM_006005.3(WFS1):c.81C>T (p.Leu27=)	rs777168956
NM_006005.3(WFS1):c.837T>C (p.Pro279=)	rs762770133
NM_006005.3(WFS1):c.872A>G (p.Tyr291Cys)	rs1730845682

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