ClinVar Miner

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

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ClinVar version:
Total variants: 115
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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

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