List of variants in gene WIPF1 reported as likely benign for Wiskott-Aldrich syndrome 2

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: 115

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001375834.1(WIPF1):c.1037C>T (p.Pro346Leu)	rs149434153	0.00113
NM_001375834.1(WIPF1):c.32C>T (p.Pro11Leu)	rs148943760	0.00076
NM_001375834.1(WIPF1):c.978C>G (p.Ser326Arg)	rs147080148	0.00073
NM_001375834.1(WIPF1):c.182-16G>A	rs139908988	0.00055
NM_001375834.1(WIPF1):c.645C>T (p.Pro215=)	rs141354164	0.00039
NM_001375834.1(WIPF1):c.212G>A (p.Gly71Asp)	rs145037448	0.00032
NM_001375834.1(WIPF1):c.1380C>T (p.Ser460=)	rs753915750	0.00027
NM_001375834.1(WIPF1):c.159C>T (p.Asp53=)	rs147372728	0.00021
NM_001375834.1(WIPF1):c.243C>T (p.Gly81=)	rs146533814	0.00020
NM_001375834.1(WIPF1):c.798A>G (p.Pro266=)	rs150911269	0.00019
NM_001375834.1(WIPF1):c.1116G>A (p.Pro372=)	rs138920689	0.00017
NM_001375834.1(WIPF1):c.717C>T (p.Pro239=)	rs573445151	0.00013
NM_001375834.1(WIPF1):c.987C>T (p.Asp329=)	rs201234000	0.00013
NM_001375834.1(WIPF1):c.30G>A (p.Pro10=)	rs745425874	0.00010
NM_001375834.1(WIPF1):c.1129+10G>A	rs887452483	0.00009
NM_001375834.1(WIPF1):c.843G>A (p.Ala281=)	rs369696922	0.00009
NM_001375834.1(WIPF1):c.147G>A (p.Thr49=)	rs770996629	0.00004
NM_001375834.1(WIPF1):c.1506G>A (p.Pro502=)	rs368381822	0.00004
NM_001375834.1(WIPF1):c.49C>T (p.Leu17=)	rs769395136	0.00004
NM_001375834.1(WIPF1):c.954G>A (p.Pro318=)	rs943312416	0.00004
NM_001375834.1(WIPF1):c.258C>T (p.Gly86=)	rs781522403	0.00003
NM_001375834.1(WIPF1):c.33G>A (p.Pro11=)	rs775206272	0.00003
NM_001375834.1(WIPF1):c.358+13T>C	rs752308068	0.00002
NM_001375834.1(WIPF1):c.39G>A (p.Pro13=)	rs143623121	0.00002
NM_001375834.1(WIPF1):c.768C>T (p.Pro256=)	rs775538363	0.00002
NM_001375834.1(WIPF1):c.1050G>T (p.Ser350=)	rs1451167601	0.00001
NM_001375834.1(WIPF1):c.1092A>G (p.Arg364=)	rs199706736	0.00001
NM_001375834.1(WIPF1):c.1122C>T (p.Gly374=)	rs1033892508	0.00001
NM_001375834.1(WIPF1):c.1130-18T>C	rs1307224263	0.00001
NM_001375834.1(WIPF1):c.1170C>T (p.Ser390=)	rs1205840828	0.00001
NM_001375834.1(WIPF1):c.1314A>G (p.Arg438=)	rs1463501006	0.00001
NM_001375834.1(WIPF1):c.1374G>A (p.Pro458=)	rs757711719	0.00001
NM_001375834.1(WIPF1):c.1497T>A (p.Pro499=)	rs749710168	0.00001
NM_001375834.1(WIPF1):c.150C>T (p.Val50=)	rs766364703	0.00001
NM_001375834.1(WIPF1):c.207C>T (p.Gly69=)	rs138616786	0.00001
NM_001375834.1(WIPF1):c.231C>T (p.Gly77=)	rs772302114	0.00001
NM_001375834.1(WIPF1):c.327G>A (p.Pro109=)	rs748281934	0.00001
NM_001375834.1(WIPF1):c.393G>A (p.Pro131=)	rs138492962	0.00001
NM_001375834.1(WIPF1):c.519G>A (p.Arg173=)	rs757656746	0.00001
NM_001375834.1(WIPF1):c.543T>C (p.Asp181=)	rs1298136683	0.00001
NM_001375834.1(WIPF1):c.579C>T (p.Pro193=)	rs1352948196	0.00001
NM_001375834.1(WIPF1):c.590G>A (p.Ser197Asn)	rs541606974	0.00001
NM_001375834.1(WIPF1):c.639C>T (p.Pro213=)	rs1408178933	0.00001
NM_001375834.1(WIPF1):c.678C>T (p.Arg226=)	rs749598227	0.00001
NM_001375834.1(WIPF1):c.759G>A (p.Pro253=)	rs1032410011	0.00001
NM_001375834.1(WIPF1):c.909C>T (p.Ser303=)	rs745551139	0.00001
NM_001375834.1(WIPF1):c.912A>G (p.Ser304=)	rs747496276	0.00001
NM_001375834.1(WIPF1):c.1017G>A (p.Leu339=)
NM_001375834.1(WIPF1):c.1050G>A (p.Ser350=)
NM_001375834.1(WIPF1):c.1080G>C (p.Pro360=)
NM_001375834.1(WIPF1):c.1110G>A (p.Arg370=)
NM_001375834.1(WIPF1):c.1116G>T (p.Pro372=)
NM_001375834.1(WIPF1):c.1122C>A (p.Gly374=)	rs1033892508
NM_001375834.1(WIPF1):c.1129+13G>A
NM_001375834.1(WIPF1):c.1129+16G>C
NM_001375834.1(WIPF1):c.1129+7C>G	rs1005877347
NM_001375834.1(WIPF1):c.1129+9A>G	rs1002688852
NM_001375834.1(WIPF1):c.1130-10T>C
NM_001375834.1(WIPF1):c.1130-4C>T	rs771873177
NM_001375834.1(WIPF1):c.1131C>A (p.Gly377=)
NM_001375834.1(WIPF1):c.1131C>T (p.Gly377=)
NM_001375834.1(WIPF1):c.1218A>T (p.Gly406=)
NM_001375834.1(WIPF1):c.1230C>G (p.Pro410=)	rs1334845649
NM_001375834.1(WIPF1):c.1236T>C (p.Ser412=)
NM_001375834.1(WIPF1):c.1263T>C (p.Asp421=)
NM_001375834.1(WIPF1):c.1264A>C (p.Arg422=)
NM_001375834.1(WIPF1):c.1299A>G (p.Pro433=)	rs2105796945
NM_001375834.1(WIPF1):c.1335A>C (p.Pro445=)
NM_001375834.1(WIPF1):c.1343-14G>A
NM_001375834.1(WIPF1):c.1343-14G>C
NM_001375834.1(WIPF1):c.1343-20C>T
NM_001375834.1(WIPF1):c.1343-5C>T
NM_001375834.1(WIPF1):c.1456+9T>C
NM_001375834.1(WIPF1):c.1457-13T>C	rs1265013243
NM_001375834.1(WIPF1):c.1457-14G>A
NM_001375834.1(WIPF1):c.181+7A>T
NM_001375834.1(WIPF1):c.181+9A>G	rs1476162237
NM_001375834.1(WIPF1):c.182-10T>C	rs1013513013
NM_001375834.1(WIPF1):c.182-14C>T
NM_001375834.1(WIPF1):c.182-20G>A
NM_001375834.1(WIPF1):c.182-8T>C
NM_001375834.1(WIPF1):c.231C>G (p.Gly77=)	rs772302114
NM_001375834.1(WIPF1):c.234C>T (p.Gly78=)
NM_001375834.1(WIPF1):c.279A>C (p.Gly93=)
NM_001375834.1(WIPF1):c.279A>G (p.Gly93=)
NM_001375834.1(WIPF1):c.285C>T (p.Gly95=)
NM_001375834.1(WIPF1):c.30G>C (p.Pro10=)	rs745425874
NM_001375834.1(WIPF1):c.358+19T>C
NM_001375834.1(WIPF1):c.359-19T>C
NM_001375834.1(WIPF1):c.432A>C (p.Pro144=)
NM_001375834.1(WIPF1):c.444G>A (p.Gly148=)
NM_001375834.1(WIPF1):c.483C>G (p.Pro161=)
NM_001375834.1(WIPF1):c.51+14C>A
NM_001375834.1(WIPF1):c.51+19_51+22del
NM_001375834.1(WIPF1):c.510G>A (p.Pro170=)
NM_001375834.1(WIPF1):c.52-15A>G
NM_001375834.1(WIPF1):c.606G>T (p.Gly202=)
NM_001375834.1(WIPF1):c.615A>G (p.Pro205=)
NM_001375834.1(WIPF1):c.618G>A (p.Val206=)
NM_001375834.1(WIPF1):c.621C>G (p.Pro207=)
NM_001375834.1(WIPF1):c.66G>A (p.Lys22=)
NM_001375834.1(WIPF1):c.762T>A (p.Pro254=)
NM_001375834.1(WIPF1):c.765C>A (p.Thr255=)
NM_001375834.1(WIPF1):c.810A>G (p.Pro270=)
NM_001375834.1(WIPF1):c.843G>C (p.Ala281=)
NM_001375834.1(WIPF1):c.843G>T (p.Ala281=)	rs369696922
NM_001375834.1(WIPF1):c.851CTC[5] (p.Pro287dup)	rs556678311
NM_001375834.1(WIPF1):c.894G>A (p.Pro298=)
NM_001375834.1(WIPF1):c.936T>A (p.Pro312=)
NM_001375834.1(WIPF1):c.936T>G (p.Pro312=)	rs1040586347
NM_001375834.1(WIPF1):c.961C>T (p.Leu321=)
NM_001375834.1(WIPF1):c.975C>G (p.Ser325=)	rs751419161
NM_001375834.1(WIPF1):c.978C>T (p.Ser326=)
NM_001375834.1(WIPF1):c.984T>C (p.Asn328=)
NM_001375834.1(WIPF1):c.996A>G (p.Pro332=)	rs2105805756

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.