ClinVar Miner

List of variants in gene SUFU reported as uncertain significance by Ambry Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 417
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_016169.4(SUFU):c.1147C>G (p.Leu383Val) rs991500079 0.00004
NM_016169.4(SUFU):c.1190A>G (p.Tyr397Cys) rs766508656 0.00002
NM_016169.4(SUFU):c.225G>T (p.Arg75Ser) rs141532626 0.00002
NM_016169.4(SUFU):c.671G>A (p.Arg224Gln) rs199673680 0.00002
NM_016169.4(SUFU):c.714G>A (p.Met238Ile) rs1163154516 0.00002
NM_016169.4(SUFU):c.892C>T (p.Arg298Trp) rs771255988 0.00002
NM_016169.4(SUFU):c.928G>A (p.Glu310Lys) rs376797758 0.00002
NM_016169.4(SUFU):c.949G>A (p.Glu317Lys) rs988284678 0.00002
NM_016169.4(SUFU):c.1003C>T (p.Leu335Phe) rs757401093 0.00001
NM_016169.4(SUFU):c.1030A>C (p.Lys344Gln) rs1590082116 0.00001
NM_016169.4(SUFU):c.1034A>G (p.Asp345Gly) rs1590082122 0.00001
NM_016169.4(SUFU):c.1042G>C (p.Glu348Gln) rs1447671524 0.00001
NM_016169.4(SUFU):c.1055C>A (p.Ser352Tyr) rs1464341550 0.00001
NM_016169.4(SUFU):c.1073A>G (p.His358Arg) rs1432365875 0.00001
NM_016169.4(SUFU):c.107C>T (p.Ala36Val) rs566714720 0.00001
NM_016169.4(SUFU):c.1088C>T (p.Thr363Met) rs1554854578 0.00001
NM_016169.4(SUFU):c.1091G>A (p.Arg364Gln) rs749802616 0.00001
NM_016169.4(SUFU):c.1141A>G (p.Ile381Val) rs574279090 0.00001
NM_016169.4(SUFU):c.1150T>A (p.Cys384Ser) rs375419295 0.00001
NM_016169.4(SUFU):c.1157G>A (p.Arg386Lys) rs767814106 0.00001
NM_016169.4(SUFU):c.1160G>A (p.Gly387Asp) rs747945243 0.00001
NM_016169.4(SUFU):c.1171C>T (p.His391Tyr) rs1234263304 0.00001
NM_016169.4(SUFU):c.1177C>T (p.Arg393Trp) rs201326378 0.00001
NM_016169.4(SUFU):c.1178G>A (p.Arg393Gln) rs1055194219 0.00001
NM_016169.4(SUFU):c.1233G>A (p.Thr411=) rs1340478666 0.00001
NM_016169.4(SUFU):c.1326A>C (p.Lys442Asn) rs1311816626 0.00001
NM_016169.4(SUFU):c.1329G>A (p.Met443Ile) rs773805575 0.00001
NM_016169.4(SUFU):c.1424C>T (p.Pro475Leu) rs1267387394 0.00001
NM_016169.4(SUFU):c.1437C>G (p.Phe479Leu) rs768454343 0.00001
NM_016169.4(SUFU):c.1453T>G (p.Ter485Glu) rs941755884 0.00001
NM_016169.4(SUFU):c.146C>T (p.Pro49Leu) rs1479128337 0.00001
NM_016169.4(SUFU):c.166G>T (p.Ala56Ser) rs200061483 0.00001
NM_016169.4(SUFU):c.183-4del rs1345403982 0.00001
NM_016169.4(SUFU):c.217A>C (p.Met73Leu) rs1183694060 0.00001
NM_016169.4(SUFU):c.256G>A (p.Glu86Lys) rs770989077 0.00001
NM_016169.4(SUFU):c.304A>G (p.Asn102Asp) rs1564657066 0.00001
NM_016169.4(SUFU):c.318G>T (p.Glu106Asp) rs1188593672 0.00001
NM_016169.4(SUFU):c.322A>G (p.Thr108Ala) rs1425171528 0.00001
NM_016169.4(SUFU):c.325G>A (p.Gly109Arg) rs192025919 0.00001
NM_016169.4(SUFU):c.337C>T (p.Pro113Ser) rs1417049698 0.00001
NM_016169.4(SUFU):c.368G>A (p.Arg123His) rs745958724 0.00001
NM_016169.4(SUFU):c.375G>T (p.Lys125Asn) rs184867271 0.00001
NM_016169.4(SUFU):c.392C>G (p.Ser131Cys) rs199626362 0.00001
NM_016169.4(SUFU):c.427G>A (p.Gly143Ser) rs1590019047 0.00001
NM_016169.4(SUFU):c.466T>C (p.Cys156Arg) rs1554852266 0.00001
NM_016169.4(SUFU):c.493A>G (p.Ser165Gly) rs368270585 0.00001
NM_016169.4(SUFU):c.562G>A (p.Val188Met) rs1462013962 0.00001
NM_016169.4(SUFU):c.601G>A (p.Val201Ile) rs147695965 0.00001
NM_016169.4(SUFU):c.602T>C (p.Val201Ala) rs772840788 0.00001
NM_016169.4(SUFU):c.637C>G (p.Gln213Glu) rs907135467 0.00001
NM_016169.4(SUFU):c.695C>T (p.Pro232Leu) rs1240436102 0.00001
NM_016169.4(SUFU):c.697T>C (p.Trp233Arg) rs1590063333 0.00001
NM_016169.4(SUFU):c.730A>G (p.Ile244Val) rs1378645161 0.00001
NM_016169.4(SUFU):c.742G>A (p.Asp248Asn) rs1283509771 0.00001
NM_016169.4(SUFU):c.750C>A (p.His250Gln) rs1235137905 0.00001
NM_016169.4(SUFU):c.778G>A (p.Glu260Lys) rs775245784 0.00001
NM_016169.4(SUFU):c.811G>T (p.Ala271Ser) rs762258680 0.00001
NM_016169.4(SUFU):c.826G>T (p.Asp276Tyr) rs1296180292 0.00001
NM_016169.4(SUFU):c.827A>G (p.Asp276Gly) rs772598822 0.00001
NM_016169.4(SUFU):c.845C>A (p.Pro282His) rs2063472026 0.00001
NM_016169.4(SUFU):c.853_861dup (p.Asp285_Asp287dup) rs1363458155 0.00001
NM_016169.4(SUFU):c.865C>T (p.Arg289Trp) rs755961394 0.00001
NM_016169.4(SUFU):c.872T>C (p.Ile291Thr) rs587778698 0.00001
NM_016169.4(SUFU):c.877A>G (p.Ile293Val) rs574002050 0.00001
NM_016169.4(SUFU):c.881G>A (p.Gly294Asp) rs761234425 0.00001
NM_016169.4(SUFU):c.904G>A (p.Gly302Ser) rs1164574977 0.00001
NM_016169.4(SUFU):c.926G>A (p.Arg309Gln) rs770246373 0.00001
NM_016169.4(SUFU):c.964C>G (p.Pro322Ala) rs765142948 0.00001
NM_016169.4(SUFU):c.967G>A (p.Val323Ile) rs1420089970 0.00001
NM_016169.4(SUFU):c.1000G>A (p.Gly334Ser)
NM_016169.4(SUFU):c.1001G>T (p.Gly334Val) rs1295694684
NM_016169.4(SUFU):c.1003C>A (p.Leu335Ile)
NM_016169.4(SUFU):c.1012G>T (p.Asp338Tyr) rs145082320
NM_016169.4(SUFU):c.1013A>G (p.Asp338Gly) rs2545101150
NM_016169.4(SUFU):c.1013A>T (p.Asp338Val) rs2545101150
NM_016169.4(SUFU):c.1016G>C (p.Arg339Pro) rs369910221
NM_016169.4(SUFU):c.1019C>T (p.Ala340Val)
NM_016169.4(SUFU):c.1021C>G (p.Pro341Ala) rs2063496822
NM_016169.4(SUFU):c.1021C>T (p.Pro341Ser)
NM_016169.4(SUFU):c.1022+2dup
NM_016169.4(SUFU):c.1023-3C>T rs550262133
NM_016169.4(SUFU):c.1025G>T (p.Ser342Ile) rs2135929739
NM_016169.4(SUFU):c.1031A>G (p.Lys344Arg) rs2492778301
NM_016169.4(SUFU):c.1033G>A (p.Asp345Asn) rs2492778320
NM_016169.4(SUFU):c.1036A>C (p.Ser346Arg) rs2492778369
NM_016169.4(SUFU):c.1038C>G (p.Ser346Arg) rs2135929815
NM_016169.4(SUFU):c.1042G>A (p.Glu348Lys) rs1447671524
NM_016169.4(SUFU):c.1046G>C (p.Ser349Thr) rs1419645738
NM_016169.4(SUFU):c.1049A>G (p.Asp350Gly) rs2492778565
NM_016169.4(SUFU):c.1051A>G (p.Ser351Gly) rs2492778607
NM_016169.4(SUFU):c.1053C>G (p.Ser351Arg) rs1171106782
NM_016169.4(SUFU):c.1054T>A (p.Ser352Thr)
NM_016169.4(SUFU):c.1055C>G (p.Ser352Cys) rs1464341550
NM_016169.4(SUFU):c.1055C>T (p.Ser352Phe)
NM_016169.4(SUFU):c.1057A>C (p.Thr353Pro) rs1043574191
NM_016169.4(SUFU):c.1061C>G (p.Ala354Gly) rs1554854572
NM_016169.4(SUFU):c.1063A>G (p.Ile355Val) rs1564706425
NM_016169.4(SUFU):c.1066A>T (p.Ile356Phe) rs2492778897
NM_016169.4(SUFU):c.1068T>G (p.Ile356Met) rs2063673886
NM_016169.4(SUFU):c.1069C>T (p.Pro357Ser) rs2135930032
NM_016169.4(SUFU):c.1079T>A (p.Leu360Gln) rs2492779104
NM_016169.4(SUFU):c.1082T>A (p.Ile361Asn) rs2492779136
NM_016169.4(SUFU):c.1082T>G (p.Ile361Ser) rs2492779136
NM_016169.4(SUFU):c.1083T>G (p.Ile361Met) rs1590082200
NM_016169.4(SUFU):c.1084C>A (p.Arg362Ser) rs36049457
NM_016169.4(SUFU):c.1085G>T (p.Arg362Leu) rs755390277
NM_016169.4(SUFU):c.1090C>T (p.Arg364Trp) rs1305395503
NM_016169.4(SUFU):c.1091G>C (p.Arg364Pro) rs749802616
NM_016169.4(SUFU):c.1099G>C (p.Glu367Gln)
NM_016169.4(SUFU):c.109A>C (p.Ile37Leu) rs745793517
NM_016169.4(SUFU):c.1102A>G (p.Ser368Gly) rs2492779427
NM_016169.4(SUFU):c.1104C>G (p.Ser368Arg) rs746580970
NM_016169.4(SUFU):c.1105G>C (p.Val369Leu) rs149449923
NM_016169.4(SUFU):c.1106T>C (p.Val369Ala) rs1554854584
NM_016169.4(SUFU):c.1109_1110delinsCG (p.His370Pro) rs1554854585
NM_016169.4(SUFU):c.110T>A (p.Ile37Asn) rs2544831254
NM_016169.4(SUFU):c.1119C>G (p.Phe373Leu) rs2135930292
NM_016169.4(SUFU):c.1124A>G (p.Gln375Arg) rs769345450
NM_016169.4(SUFU):c.1126G>C (p.Glu376Gln) rs2135930350
NM_016169.4(SUFU):c.112T>C (p.Tyr38His) rs2544831280
NM_016169.4(SUFU):c.1132G>A (p.Gly378Arg) rs1256959985
NM_016169.4(SUFU):c.1138C>A (p.Leu380Ile) rs2135930417
NM_016169.4(SUFU):c.113A>G (p.Tyr38Cys) rs2062292284
NM_016169.4(SUFU):c.1144C>T (p.Pro382Ser) rs768377755
NM_016169.4(SUFU):c.1145C>T (p.Pro382Leu) rs1401882800
NM_016169.4(SUFU):c.1147C>T (p.Leu383Phe) rs991500079
NM_016169.4(SUFU):c.1148T>G (p.Leu383Arg)
NM_016169.4(SUFU):c.1150T>C (p.Cys384Arg) rs375419295
NM_016169.4(SUFU):c.1157+4A>G
NM_016169.4(SUFU):c.1157G>C (p.Arg386Thr) rs767814106
NM_016169.4(SUFU):c.1158-3C>T rs936830108
NM_016169.4(SUFU):c.1160G>T (p.Gly387Val)
NM_016169.4(SUFU):c.1163G>A (p.Arg388Lys)
NM_016169.4(SUFU):c.116G>T (p.Gly39Val) rs756123785
NM_016169.4(SUFU):c.1172A>G (p.His391Arg) rs2063696863
NM_016169.4(SUFU):c.1174G>C (p.Gly392Arg) rs2063696912
NM_016169.4(SUFU):c.1180C>G (p.His394Asp) rs2492789546
NM_016169.4(SUFU):c.1180C>T (p.His394Tyr)
NM_016169.4(SUFU):c.1196G>A (p.Ser399Asn) rs1421345157
NM_016169.4(SUFU):c.119A>G (p.Glu40Gly) rs2135598325
NM_016169.4(SUFU):c.1202C>T (p.Thr401Ile) rs776868943
NM_016169.4(SUFU):c.1205G>A (p.Gly402Asp) rs2063697237
NM_016169.4(SUFU):c.120G>T (p.Glu40Asp) rs2544831363
NM_016169.4(SUFU):c.1210A>G (p.Met404Val) rs1312190379
NM_016169.4(SUFU):c.1216A>G (p.Ile406Val) rs1060501116
NM_016169.4(SUFU):c.1220C>T (p.Thr407Met) rs1313595676
NM_016169.4(SUFU):c.1229C>G (p.Ser410Cys) rs2492790049
NM_016169.4(SUFU):c.1238T>G (p.Val413Gly)
NM_016169.4(SUFU):c.123C>G (p.Cys41Trp)
NM_016169.4(SUFU):c.1244G>T (p.Gly415Val)
NM_016169.4(SUFU):c.1246G>A (p.Ala416Thr) rs779490664
NM_016169.4(SUFU):c.1247C>A (p.Ala416Asp) rs2063698018
NM_016169.4(SUFU):c.1250T>C (p.Phe417Ser) rs2492790358
NM_016169.4(SUFU):c.1253C>T (p.Ala418Val)
NM_016169.4(SUFU):c.1259A>G (p.Glu420Gly)
NM_016169.4(SUFU):c.1268C>G (p.Pro423Arg) rs1590084270
NM_016169.4(SUFU):c.1274C>A (p.Ala425Glu)
NM_016169.4(SUFU):c.1274C>T (p.Ala425Val) rs1427876079
NM_016169.4(SUFU):c.1276G>A (p.Ala426Thr) rs1189930416
NM_016169.4(SUFU):c.1285C>A (p.Pro429Thr)
NM_016169.4(SUFU):c.1289G>C (p.Trp430Ser) rs2492790910
NM_016169.4(SUFU):c.1296+3G>A rs2135935586
NM_016169.4(SUFU):c.1297-5C>T rs1275187815
NM_016169.4(SUFU):c.1300C>G (p.Leu434Val)
NM_016169.4(SUFU):c.1304T>C (p.Leu435Ser) rs2492836672
NM_016169.4(SUFU):c.1307C>G (p.Thr436Ser) rs2492836692
NM_016169.4(SUFU):c.130C>T (p.Leu44Phe) rs2062292732
NM_016169.4(SUFU):c.1313A>C (p.Glu438Ala) rs1169655389
NM_016169.4(SUFU):c.1314G>C (p.Glu438Asp) rs1394954348
NM_016169.4(SUFU):c.1319T>C (p.Val440Ala) rs2135954241
NM_016169.4(SUFU):c.1329G>T (p.Met443Ile) rs773805575
NM_016169.4(SUFU):c.1335G>C (p.Glu445Asp) rs1590092132
NM_016169.4(SUFU):c.1342G>C (p.Glu448Gln) rs2135954335
NM_016169.4(SUFU):c.1345G>T (p.Asp449Tyr) rs2492837139
NM_016169.4(SUFU):c.134A>T (p.Tyr45Phe) rs774611157
NM_016169.4(SUFU):c.1352C>T (p.Thr451Ile)
NM_016169.4(SUFU):c.1363G>A (p.Glu455Lys) rs2492837311
NM_016169.4(SUFU):c.1366-3C>A
NM_016169.4(SUFU):c.1368C>A (p.Phe456Leu) rs2063823996
NM_016169.4(SUFU):c.136C>A (p.Pro46Thr) rs748377573
NM_016169.4(SUFU):c.136C>T (p.Pro46Ser) rs748377573
NM_016169.4(SUFU):c.1370A>G (p.Lys457Arg) rs947720538
NM_016169.4(SUFU):c.1370A>T (p.Lys457Ile)
NM_016169.4(SUFU):c.1372C>T (p.Leu458Phe) rs2492850467
NM_016169.4(SUFU):c.1375C>T (p.Pro459Ser) rs2063824067
NM_016169.4(SUFU):c.1376C>G (p.Pro459Arg)
NM_016169.4(SUFU):c.1379A>C (p.Lys460Thr) rs778125780
NM_016169.4(SUFU):c.137C>T (p.Pro46Leu) rs2135598488
NM_016169.4(SUFU):c.1381G>A (p.Glu461Lys) rs2063824160
NM_016169.4(SUFU):c.1382A>G (p.Glu461Gly)
NM_016169.4(SUFU):c.1382A>T (p.Glu461Val)
NM_016169.4(SUFU):c.1385A>T (p.Tyr462Phe)
NM_016169.4(SUFU):c.1388G>C (p.Ser463Thr)
NM_016169.4(SUFU):c.1392G>A (p.Trp464Ter)
NM_016169.4(SUFU):c.1393C>G (p.Pro465Ala)
NM_016169.4(SUFU):c.139G>A (p.Asp47Asn) rs2062292973
NM_016169.4(SUFU):c.139G>T (p.Asp47Tyr) rs2062292973
NM_016169.4(SUFU):c.1405_1410del (p.Leu469_Lys470del)
NM_016169.4(SUFU):c.1409A>T (p.Lys470Met) rs2492850731
NM_016169.4(SUFU):c.1411G>A (p.Val471Ile) rs2492850758
NM_016169.4(SUFU):c.141C>G (p.Asp47Glu)
NM_016169.4(SUFU):c.1424C>G (p.Pro475Arg) rs1267387394
NM_016169.4(SUFU):c.1428_1431del (p.Asp476fs) rs2492850967
NM_016169.4(SUFU):c.1429G>C (p.Val477Leu)
NM_016169.4(SUFU):c.1435T>C (p.Phe479Leu) rs1590095021
NM_016169.4(SUFU):c.1438G>A (p.Asp480Asn) rs1318484622
NM_016169.4(SUFU):c.1438G>C (p.Asp480His) rs1318484622
NM_016169.4(SUFU):c.1442_1451del (p.Ser481fs) rs1324912821
NM_016169.4(SUFU):c.1445C>G (p.Pro482Arg) rs765358771
NM_016169.4(SUFU):c.144G>T (p.Gln48His) rs2135598543
NM_016169.4(SUFU):c.1450C>T (p.His484Tyr) rs2135959641
NM_016169.4(SUFU):c.1450del (p.His484fs)
NM_016169.4(SUFU):c.1451A>G (p.His484Arg) rs2492851231
NM_016169.4(SUFU):c.1454A>G (p.Ter485Trp)
NM_016169.4(SUFU):c.151C>T (p.Pro51Ser) rs2062293449
NM_016169.4(SUFU):c.152C>G (p.Pro51Arg) rs2544831707
NM_016169.4(SUFU):c.155T>A (p.Leu52His) rs2135598661
NM_016169.4(SUFU):c.158A>G (p.Gln53Arg) rs1589970174
NM_016169.4(SUFU):c.172G>C (p.Val58Leu) rs766897671
NM_016169.4(SUFU):c.179A>C (p.Tyr60Ser) rs2544831968
NM_016169.4(SUFU):c.182+3A>G rs1589970228
NM_016169.4(SUFU):c.182+5G>T
NM_016169.4(SUFU):c.183-1G>A rs1554841447
NM_016169.4(SUFU):c.183G>T (p.Trp61Cys)
NM_016169.4(SUFU):c.186G>T (p.Leu62Phe)
NM_016169.4(SUFU):c.187G>A (p.Gly63Ser) rs2544845379
NM_016169.4(SUFU):c.191G>T (p.Gly64Val)
NM_016169.4(SUFU):c.217A>G (p.Met73Val)
NM_016169.4(SUFU):c.217A>T (p.Met73Leu) rs1183694060
NM_016169.4(SUFU):c.221A>G (p.Tyr74Cys) rs2544845603
NM_016169.4(SUFU):c.224G>A (p.Arg75Lys) rs1290561880
NM_016169.4(SUFU):c.230T>C (p.Val77Ala) rs2062368650
NM_016169.4(SUFU):c.233G>A (p.Gly78Glu) rs2062368710
NM_016169.4(SUFU):c.237C>A (p.Ser79Arg)
NM_016169.4(SUFU):c.241T>G (p.Ser81Ala) rs2544845869
NM_016169.4(SUFU):c.241_242delinsGT (p.Ser81Val) rs2544845886
NM_016169.4(SUFU):c.242C>T (p.Ser81Phe) rs2062368817
NM_016169.4(SUFU):c.245C>T (p.Ala82Val) rs2544845920
NM_016169.4(SUFU):c.250A>G (p.Ile84Val)
NM_016169.4(SUFU):c.254C>G (p.Pro85Arg) rs777936677
NM_016169.4(SUFU):c.254C>T (p.Pro85Leu) rs777936677
NM_016169.4(SUFU):c.257A>T (p.Glu86Val)
NM_016169.4(SUFU):c.271A>G (p.Ile91Val) rs759030707
NM_016169.4(SUFU):c.278T>G (p.Phe93Cys) rs2544846141
NM_016169.4(SUFU):c.280G>A (p.Gly94Ser) rs2544846165
NM_016169.4(SUFU):c.287G>C (p.Ser96Thr) rs2135620752
NM_016169.4(SUFU):c.296A>G (p.Tyr99Cys) rs1464640869
NM_016169.4(SUFU):c.296A>T (p.Tyr99Phe)
NM_016169.4(SUFU):c.306C>G (p.Asn102Lys) rs1564657077
NM_016169.4(SUFU):c.313C>T (p.His105Tyr)
NM_016169.4(SUFU):c.326G>A (p.Gly109Glu)
NM_016169.4(SUFU):c.331G>A (p.Asp111Asn) rs1590018865
NM_016169.4(SUFU):c.341G>A (p.Ser114Asn) rs781192849
NM_016169.4(SUFU):c.347T>G (p.Phe116Cys) rs2544969028
NM_016169.4(SUFU):c.358T>G (p.Leu120Val) rs1415947980
NM_016169.4(SUFU):c.362C>T (p.Thr121Ile) rs2135743157
NM_016169.4(SUFU):c.366T>G (p.Phe122Leu) rs1216193400
NM_016169.4(SUFU):c.367C>A (p.Arg123Ser) rs202247756
NM_016169.4(SUFU):c.367C>T (p.Arg123Cys) rs202247756
NM_016169.4(SUFU):c.377G>C (p.Arg126Thr)
NM_016169.4(SUFU):c.379G>A (p.Glu127Lys) rs1280071055
NM_016169.4(SUFU):c.383C>G (p.Thr128Ser) rs749864416
NM_016169.4(SUFU):c.383C>T (p.Thr128Ile)
NM_016169.4(SUFU):c.388G>A (p.Glu130Lys) rs2544969461
NM_016169.4(SUFU):c.389A>G (p.Glu130Gly) rs2544969489
NM_016169.4(SUFU):c.395C>G (p.Ala132Gly) rs2135743320
NM_016169.4(SUFU):c.398C>T (p.Pro133Leu) rs2544969566
NM_016169.4(SUFU):c.403A>G (p.Thr135Ala)
NM_016169.4(SUFU):c.412G>T (p.Ala138Ser)
NM_016169.4(SUFU):c.419T>C (p.Leu140Ser)
NM_016169.4(SUFU):c.430T>G (p.Leu144Val) rs2135743501
NM_016169.4(SUFU):c.439T>C (p.Tyr147His) rs2544969890
NM_016169.4(SUFU):c.442G>A (p.Val148Met) rs763813479
NM_016169.4(SUFU):c.442G>T (p.Val148Leu) rs763813479
NM_016169.4(SUFU):c.443T>C (p.Val148Ala)
NM_016169.4(SUFU):c.450G>C (p.Gln150His) rs2544969981
NM_016169.4(SUFU):c.456G>T (p.Glu152Asp) rs2545080824
NM_016169.4(SUFU):c.461C>A (p.Thr154Asn) rs2545080852
NM_016169.4(SUFU):c.464T>G (p.Phe155Cys) rs2063414949
NM_016169.4(SUFU):c.469A>G (p.Ser157Gly) rs2063415039
NM_016169.4(SUFU):c.478C>A (p.His160Asn)
NM_016169.4(SUFU):c.479A>G (p.His160Arg) rs2545080920
NM_016169.4(SUFU):c.489G>C (p.Trp163Cys) rs2135866667
NM_016169.4(SUFU):c.490C>T (p.His164Tyr) rs2063415325
NM_016169.4(SUFU):c.496C>A (p.Pro166Thr) rs2545081026
NM_016169.4(SUFU):c.505A>T (p.Asn169Tyr) rs1590061852
NM_016169.4(SUFU):c.508A>T (p.Ser170Cys)
NM_016169.4(SUFU):c.509G>A (p.Ser170Asn) rs1357846729
NM_016169.4(SUFU):c.509G>C (p.Ser170Thr) rs1357846729
NM_016169.4(SUFU):c.514T>C (p.Ser172Pro) rs2545081099
NM_016169.4(SUFU):c.518G>T (p.Arg173Ile) rs587778697
NM_016169.4(SUFU):c.530T>C (p.Met177Thr) rs1590061903
NM_016169.4(SUFU):c.531G>T (p.Met177Ile) rs2135866942
NM_016169.4(SUFU):c.539C>T (p.Thr180Ile) rs2135866997
NM_016169.4(SUFU):c.550C>G (p.Gln184Glu) rs2063416132
NM_016169.4(SUFU):c.563T>C (p.Val188Ala) rs2063416415
NM_016169.4(SUFU):c.567G>C (p.Gln189His)
NM_016169.4(SUFU):c.567G>T (p.Gln189His) rs2135867246
NM_016169.4(SUFU):c.568A>G (p.Thr190Ala) rs2545081464
NM_016169.4(SUFU):c.569C>T (p.Thr190Ile)
NM_016169.4(SUFU):c.586A>C (p.Thr196Pro) rs2135867363
NM_016169.4(SUFU):c.587C>T (p.Thr196Ile) rs2063416715
NM_016169.4(SUFU):c.597+2T>G
NM_016169.4(SUFU):c.597+5G>A rs1590062007
NM_016169.4(SUFU):c.600C>G (p.Ile200Met) rs149513330
NM_016169.4(SUFU):c.601G>C (p.Val201Leu) rs147695965
NM_016169.4(SUFU):c.607G>A (p.Val203Ile) rs760484608
NM_016169.4(SUFU):c.613A>G (p.Thr205Ala) rs2545084577
NM_016169.4(SUFU):c.614C>T (p.Thr205Ile) rs1478836560
NM_016169.4(SUFU):c.616G>A (p.Glu206Lys) rs1590062858
NM_016169.4(SUFU):c.636G>C (p.Gln212His)
NM_016169.4(SUFU):c.645C>G (p.Asn215Lys) rs551772204
NM_016169.4(SUFU):c.647G>A (p.Gly216Glu) rs2545084806
NM_016169.4(SUFU):c.652G>A (p.Gly218Ser) rs2545084859
NM_016169.4(SUFU):c.652G>T (p.Gly218Cys)
NM_016169.4(SUFU):c.661G>A (p.Glu221Lys) rs2545084934
NM_016169.4(SUFU):c.670C>T (p.Arg224Trp) rs1590062935
NM_016169.4(SUFU):c.673A>T (p.Thr225Ser) rs2063429642
NM_016169.4(SUFU):c.674C>G (p.Thr225Arg) rs1432427138
NM_016169.4(SUFU):c.677T>C (p.Val226Ala) rs895181370
NM_016169.4(SUFU):c.683+3G>A rs1590062961
NM_016169.4(SUFU):c.686C>G (p.Ala229Gly) rs1590063307
NM_016169.4(SUFU):c.691G>A (p.Gly231Ser) rs1457485957
NM_016169.4(SUFU):c.694C>G (p.Pro232Ala) rs1060501110
NM_016169.4(SUFU):c.694C>T (p.Pro232Ser) rs1060501110
NM_016169.4(SUFU):c.700C>G (p.Leu234Val) rs2545086803
NM_016169.4(SUFU):c.706A>G (p.Thr236Ala) rs749799131
NM_016169.4(SUFU):c.710A>G (p.Asp237Gly) rs2063434315
NM_016169.4(SUFU):c.712A>G (p.Met238Val) rs2063434374
NM_016169.4(SUFU):c.713T>C (p.Met238Thr) rs2063434396
NM_016169.4(SUFU):c.716G>A (p.Arg239Gln) rs1403040084
NM_016169.4(SUFU):c.727A>C (p.Thr243Pro)
NM_016169.4(SUFU):c.727A>T (p.Thr243Ser) rs762294261
NM_016169.4(SUFU):c.731T>C (p.Ile244Thr) rs2063435042
NM_016169.4(SUFU):c.732A>G (p.Ile244Met) rs2545087027
NM_016169.4(SUFU):c.733T>G (p.Phe245Val) rs1337281398
NM_016169.4(SUFU):c.734T>C (p.Phe245Ser) rs1303650670
NM_016169.4(SUFU):c.734T>G (p.Phe245Cys) rs1303650670
NM_016169.4(SUFU):c.741C>G (p.Ile247Met) rs2135872473
NM_016169.4(SUFU):c.742G>C (p.Asp248His) rs1283509771
NM_016169.4(SUFU):c.744T>G (p.Asp248Glu)
NM_016169.4(SUFU):c.746C>G (p.Pro249Arg) rs2545087118
NM_016169.4(SUFU):c.746C>T (p.Pro249Leu) rs2545087118
NM_016169.4(SUFU):c.748C>T (p.His250Tyr) rs2135872528
NM_016169.4(SUFU):c.749A>G (p.His250Arg) rs750808785
NM_016169.4(SUFU):c.752T>G (p.Leu251Arg)
NM_016169.4(SUFU):c.756+3A>G rs2135872631
NM_016169.4(SUFU):c.756A>C (p.Gln252His) rs1317467424
NM_016169.4(SUFU):c.757-4G>T rs1554852773
NM_016169.4(SUFU):c.758A>G (p.Glu253Gly) rs2135881068
NM_016169.4(SUFU):c.768C>G (p.Asp256Glu) rs2135881101
NM_016169.4(SUFU):c.773G>A (p.Gly258Asp) rs775760512
NM_016169.4(SUFU):c.773G>T (p.Gly258Val)
NM_016169.4(SUFU):c.776T>C (p.Ile259Thr) rs1590065889
NM_016169.4(SUFU):c.777C>G (p.Ile259Met) rs749533220
NM_016169.4(SUFU):c.784G>C (p.Asp262His) rs2545094017
NM_016169.4(SUFU):c.791C>G (p.Ser264Cys) rs2545094062
NM_016169.4(SUFU):c.812C>T (p.Ala271Val) rs2545094195
NM_016169.4(SUFU):c.828T>A (p.Asp276Glu)
NM_016169.4(SUFU):c.829G>A (p.Asp277Asn) rs2545094371
NM_016169.4(SUFU):c.831C>A (p.Asp277Glu) rs1340330498
NM_016169.4(SUFU):c.836G>A (p.Ser279Asn) rs1486885056
NM_016169.4(SUFU):c.844C>A (p.Pro282Thr)
NM_016169.4(SUFU):c.844C>G (p.Pro282Ala) rs1215810497
NM_016169.4(SUFU):c.847G>A (p.Glu283Lys) rs1554852789
NM_016169.4(SUFU):c.848A>C (p.Glu283Ala) rs763598499
NM_016169.4(SUFU):c.855C>G (p.Asp285Glu) rs200206997
NM_016169.4(SUFU):c.858G>C (p.Glu286Asp) rs1007675139
NM_016169.4(SUFU):c.859G>A (p.Asp287Asn) rs750436246
NM_016169.4(SUFU):c.861C>G (p.Asp287Glu) rs1240385834
NM_016169.4(SUFU):c.868A>G (p.Ser290Gly) rs1406131774
NM_016169.4(SUFU):c.871A>G (p.Ile291Val) rs2545094926
NM_016169.4(SUFU):c.871_879dup (p.Ile291_Ile293dup) rs1590066093
NM_016169.4(SUFU):c.872T>A (p.Ile291Asn) rs587778698
NM_016169.4(SUFU):c.874T>C (p.Cys292Arg) rs2545094957
NM_016169.4(SUFU):c.877A>C (p.Ile293Leu) rs574002050
NM_016169.4(SUFU):c.878T>A (p.Ile293Asn) rs1487599100
NM_016169.4(SUFU):c.884C>G (p.Thr295Arg) rs2545095099
NM_016169.4(SUFU):c.887A>G (p.Gln296Arg) rs2135882221
NM_016169.4(SUFU):c.889C>T (p.Pro297Ser)
NM_016169.4(SUFU):c.890C>T (p.Pro297Leu) rs1590066137
NM_016169.4(SUFU):c.892C>G (p.Arg298Gly) rs771255988
NM_016169.4(SUFU):c.893G>A (p.Arg298Gln) rs1197687313
NM_016169.4(SUFU):c.898C>T (p.Leu300Phe) rs1399033829
NM_016169.4(SUFU):c.902C>T (p.Ser301Phe) rs1554852823
NM_016169.4(SUFU):c.905G>A (p.Gly302Asp) rs2135882420
NM_016169.4(SUFU):c.906C>T (p.Gly302=) rs1417809577
NM_016169.4(SUFU):c.910+3_910+4delinsCCAC
NM_016169.4(SUFU):c.910+4G>A rs1060501104
NM_016169.4(SUFU):c.910G>A (p.Asp304Asn) rs1385719041
NM_016169.4(SUFU):c.911-2A>C rs2545100258
NM_016169.4(SUFU):c.911-3C>T rs2545100253
NM_016169.4(SUFU):c.911A>G (p.Asp304Gly)
NM_016169.4(SUFU):c.912C>T (p.Asp304=) rs2545100272
NM_016169.4(SUFU):c.913A>G (p.Thr305Ala) rs1590067989
NM_016169.4(SUFU):c.913A>T (p.Thr305Ser) rs1590067989
NM_016169.4(SUFU):c.917A>T (p.Glu306Val) rs2545100300
NM_016169.4(SUFU):c.920A>G (p.Gln307Arg) rs2545100306
NM_016169.4(SUFU):c.941G>A (p.Arg314Lys) rs369741612
NM_016169.4(SUFU):c.943G>C (p.Gly315Arg) rs141737156
NM_016169.4(SUFU):c.944G>A (p.Gly315Glu) rs2135888649
NM_016169.4(SUFU):c.946C>T (p.Leu316Phe) rs1554853004
NM_016169.4(SUFU):c.947T>C (p.Leu316Pro)
NM_016169.4(SUFU):c.949_954del (p.Glu317_Ile318del) rs2063495678
NM_016169.4(SUFU):c.953T>A (p.Ile318Asn) rs2545100645
NM_016169.4(SUFU):c.965C>A (p.Pro322His) rs2135888788
NM_016169.4(SUFU):c.967G>C (p.Val323Leu)
NM_016169.4(SUFU):c.968T>A (p.Val323Asp) rs1475601053
NM_016169.4(SUFU):c.971T>C (p.Leu324Pro) rs1170234423
NM_016169.4(SUFU):c.973C>T (p.Pro325Ser) rs2545100820
NM_016169.4(SUFU):c.974C>T (p.Pro325Leu) rs2135888846
NM_016169.4(SUFU):c.976C>A (p.Pro326Thr)
NM_016169.4(SUFU):c.979A>T (p.Ile327Phe) rs752846043
NM_016169.4(SUFU):c.985C>A (p.Pro329Thr) rs2063496120
NM_016169.4(SUFU):c.985C>T (p.Pro329Ser) rs2063496120
NM_016169.4(SUFU):c.989A>C (p.Gln330Pro) rs1060501107
NM_016169.4(SUFU):c.989A>G (p.Gln330Arg) rs1060501107

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.