List of variants in gene WFS1 reported as uncertain significance by Eurofins NTD LLC (GA)

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: 47

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_006005.3(WFS1):c.683G>A (p.Arg228His)	rs150771247	0.00090
NM_006005.3(WFS1):c.2195G>A (p.Arg732His)	rs149013740	0.00083
NM_006005.3(WFS1):c.1152C>T (p.Phe384=)	rs149846741	0.00076
NM_006005.3(WFS1):c.1597C>T (p.Pro533Ser)	rs146132083	0.00076
NM_006005.3(WFS1):c.2039A>C (p.Glu680Ala)	rs144840779	0.00050
NM_006005.3(WFS1):c.2424C>T (p.Ser808=)	rs56035336	0.00048
NM_006005.3(WFS1):c.2627A>C (p.Lys876Thr)	rs144900514	0.00045
NM_006005.3(WFS1):c.325C>T (p.His109Tyr)	rs112871383	0.00029
NM_006005.3(WFS1):c.1760G>A (p.Arg587Gln)	rs71539657	0.00028
NM_006005.3(WFS1):c.975C>T (p.Asn325=)	rs141177727	0.00017
NM_006005.3(WFS1):c.2122C>T (p.Arg708Cys)	rs200099217	0.00016
NM_006005.3(WFS1):c.400G>A (p.Ala134Thr)	rs147724970	0.00016
NM_006005.3(WFS1):c.2054G>A (p.Arg685His)	rs142668478	0.00014
NM_006005.3(WFS1):c.2398A>G (p.Lys800Glu)	rs55674815	0.00014
NM_006005.3(WFS1):c.728C>T (p.Ala243Val)	rs147147660	0.00012
NM_006005.3(WFS1):c.1195T>G (p.Trp399Gly)	rs767561828	0.00011
NM_006005.3(WFS1):c.2603G>A (p.Arg868His)	rs56393026	0.00010
NM_006005.3(WFS1):c.173C>T (p.Ala58Val)	rs369671890	0.00009
NM_006005.3(WFS1):c.1871T>C (p.Val624Ala)	rs747477628	0.00009
NM_006005.3(WFS1):c.1633G>A (p.Val545Met)	rs201993978	0.00007
NM_006005.3(WFS1):c.726C>T (p.Ile242=)	rs71524381	0.00007
NM_006005.3(WFS1):c.2181C>T (p.Ile727=)	rs140286718	0.00006
NM_006005.3(WFS1):c.2620G>A (p.Ala874Thr)	rs200775335	0.00006
NM_006005.3(WFS1):c.977C>T (p.Ala326Val)	rs369795224	0.00006
NM_006005.3(WFS1):c.498C>G (p.Leu166=)	rs758731318	0.00005
NM_006005.3(WFS1):c.1743C>T (p.Gly581=)	rs377539343	0.00004
NM_006005.3(WFS1):c.1801G>A (p.Val601Met)	rs147838635	0.00004
NM_006005.3(WFS1):c.2029G>A (p.Ala677Thr)	rs757027394	0.00004
NM_006005.3(WFS1):c.20C>T (p.Pro7Leu)	rs138165486	0.00004
NM_006005.3(WFS1):c.884C>T (p.Ala295Val)	rs1310473702	0.00003
NM_006005.3(WFS1):c.2470G>A (p.Glu824Lys)	rs367547063	0.00002
NM_006005.3(WFS1):c.1014C>T (p.Ile338=)	rs748353498	0.00001
NM_006005.3(WFS1):c.1416C>A (p.Pro472=)	rs530734300	0.00001
NM_006005.3(WFS1):c.1536C>T (p.Leu512=)	rs199728640	0.00001
NM_006005.3(WFS1):c.2380G>A (p.Glu794Lys)	rs201078003	0.00001
NM_006005.3(WFS1):c.2549G>A (p.Cys850Tyr)	rs748404777	0.00001
NM_006005.3(WFS1):c.634G>A (p.Gly212Arg)	rs1216952842	0.00001
NM_006005.3(WFS1):c.994A>T (p.Ile332Phe)	rs564413149	0.00001
NM_006005.3(WFS1):c.1149C>T (p.Arg383=)	rs1560418384
NM_006005.3(WFS1):c.154C>A (p.Pro52Thr)	rs111773340
NM_006005.3(WFS1):c.1922C>T (p.Thr641Met)	rs376626985
NM_006005.3(WFS1):c.1947C>T (p.Phe649=)	rs886044044
NM_006005.3(WFS1):c.2201T>A (p.Leu734His)	rs1409267086
NM_006005.3(WFS1):c.2370G>C (p.Ser790=)	rs150936382
NM_006005.3(WFS1):c.2385G>A (p.Glu795=)	rs373310972
NM_006005.3(WFS1):c.2500G>A (p.Gly834Ser)	rs398124214
NM_006005.3(WFS1):c.615C>G (p.Gly205=)	rs954971844

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.