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: 277
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HGVS dbSNP gnomAD frequency
NM_016169.4(SUFU):c.839G>A (p.Arg280Gln) rs145704867 0.00014
NM_016169.4(SUFU):c.1121A>G (p.Asn374Ser) rs1265012285 0.00011
NM_016169.4(SUFU):c.1147C>G (p.Leu383Val) rs991500079 0.00004
NM_016169.4(SUFU):c.109A>G (p.Ile37Val) rs745793517 0.00003
NM_016169.4(SUFU):c.506A>G (p.Asn169Ser) rs142672533 0.00003
NM_016169.4(SUFU):c.896G>A (p.Arg299Gln) rs374946819 0.00003
NM_016169.4(SUFU):c.1190A>G (p.Tyr397Cys) rs766508656 0.00002
NM_016169.4(SUFU):c.1280A>G (p.His427Arg) rs771305734 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.703A>G (p.Ile235Val) rs144666812 0.00002
NM_016169.4(SUFU):c.892C>T (p.Arg298Trp) rs771255988 0.00002
NM_016169.4(SUFU):c.926G>A (p.Arg309Gln) rs770246373 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.1015C>T (p.Arg339Trp) rs773037813 0.00001
NM_016169.4(SUFU):c.1030A>C (p.Lys344Gln) rs1590082116 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.1150T>A (p.Cys384Ser) rs375419295 0.00001
NM_016169.4(SUFU):c.1177C>T (p.Arg393Trp) rs201326378 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.146C>T (p.Pro49Leu) rs1479128337 0.00001
NM_016169.4(SUFU):c.166G>T (p.Ala56Ser) rs200061483 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.322A>G (p.Thr108Ala) rs1425171528 0.00001
NM_016169.4(SUFU):c.325G>A (p.Gly109Arg) rs192025919 0.00001
NM_016169.4(SUFU):c.329C>G (p.Thr110Arg) rs1171604398 0.00001
NM_016169.4(SUFU):c.368G>A (p.Arg123His) rs745958724 0.00001
NM_016169.4(SUFU):c.427G>A (p.Gly143Ser) rs1590019047 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.691G>A (p.Gly231Ser) rs1457485957 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.827A>G (p.Asp276Gly) rs772598822 0.00001
NM_016169.4(SUFU):c.848A>G (p.Glu283Gly) rs763598499 0.00001
NM_016169.4(SUFU):c.872T>C (p.Ile291Thr) rs587778698 0.00001
NM_016169.4(SUFU):c.967G>A (p.Val323Ile) rs1420089970 0.00001
NM_016169.4(SUFU):c.1001G>T (p.Gly334Val)
NM_016169.4(SUFU):c.1012G>A (p.Asp338Asn) rs145082320
NM_016169.4(SUFU):c.1012G>T (p.Asp338Tyr) rs145082320
NM_016169.4(SUFU):c.1021C>G (p.Pro341Ala) rs2063496822
NM_016169.4(SUFU):c.1023-3C>T rs550262133
NM_016169.4(SUFU):c.1028G>T (p.Arg343Leu) rs79299301
NM_016169.4(SUFU):c.1034A>G (p.Asp345Gly) rs1590082122
NM_016169.4(SUFU):c.1036A>C (p.Ser346Arg)
NM_016169.4(SUFU):c.1038C>G (p.Ser346Arg)
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)
NM_016169.4(SUFU):c.1051A>G (p.Ser351Gly)
NM_016169.4(SUFU):c.1053C>G (p.Ser351Arg)
NM_016169.4(SUFU):c.1057A>G (p.Thr353Ala)
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)
NM_016169.4(SUFU):c.1079T>A (p.Leu360Gln)
NM_016169.4(SUFU):c.1083T>G (p.Ile361Met) rs1590082200
NM_016169.4(SUFU):c.1090C>T (p.Arg364Trp) rs1305395503
NM_016169.4(SUFU):c.1091G>C (p.Arg364Pro)
NM_016169.4(SUFU):c.109A>C (p.Ile37Leu)
NM_016169.4(SUFU):c.1102A>G (p.Ser368Gly)
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)
NM_016169.4(SUFU):c.1124A>G (p.Gln375Arg)
NM_016169.4(SUFU):c.1126G>C (p.Glu376Gln)
NM_016169.4(SUFU):c.112T>C (p.Tyr38His)
NM_016169.4(SUFU):c.1132G>A (p.Gly378Arg) rs1256959985
NM_016169.4(SUFU):c.1133G>C (p.Gly378Ala)
NM_016169.4(SUFU):c.1138C>A (p.Leu380Ile)
NM_016169.4(SUFU):c.1141A>G (p.Ile381Val)
NM_016169.4(SUFU):c.1145C>T (p.Pro382Leu) rs1401882800
NM_016169.4(SUFU):c.1147C>T (p.Leu383Phe)
NM_016169.4(SUFU):c.1157G>C (p.Arg386Thr)
NM_016169.4(SUFU):c.1171C>T (p.His391Tyr)
NM_016169.4(SUFU):c.1174G>C (p.Gly392Arg) rs2063696912
NM_016169.4(SUFU):c.1178G>A (p.Arg393Gln)
NM_016169.4(SUFU):c.1196G>A (p.Ser399Asn) rs1421345157
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.1216A>G (p.Ile406Val) rs1060501116
NM_016169.4(SUFU):c.1229C>G (p.Ser410Cys)
NM_016169.4(SUFU):c.1246G>A (p.Ala416Thr) rs779490664
NM_016169.4(SUFU):c.1268C>G (p.Pro423Arg) rs1590084270
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.1296+3G>A rs2135935586
NM_016169.4(SUFU):c.1297-5C>T rs1275187815
NM_016169.4(SUFU):c.130C>T (p.Leu44Phe)
NM_016169.4(SUFU):c.1313A>C (p.Glu438Ala)
NM_016169.4(SUFU):c.1314G>C (p.Glu438Asp)
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)
NM_016169.4(SUFU):c.1347T>G (p.Asp449Glu) rs1564711403
NM_016169.4(SUFU):c.134A>T (p.Tyr45Phe) rs774611157
NM_016169.4(SUFU):c.1368C>A (p.Phe456Leu)
NM_016169.4(SUFU):c.1370A>G (p.Lys457Arg) rs947720538
NM_016169.4(SUFU):c.1372C>T (p.Leu458Phe)
NM_016169.4(SUFU):c.1375C>T (p.Pro459Ser) rs2063824067
NM_016169.4(SUFU):c.1379A>C (p.Lys460Thr)
NM_016169.4(SUFU):c.1381G>A (p.Glu461Lys)
NM_016169.4(SUFU):c.139G>T (p.Asp47Tyr)
NM_016169.4(SUFU):c.1411G>A (p.Val471Ile)
NM_016169.4(SUFU):c.1424C>G (p.Pro475Arg)
NM_016169.4(SUFU):c.1424C>T (p.Pro475Leu)
NM_016169.4(SUFU):c.1435T>C (p.Phe479Leu) rs1590095021
NM_016169.4(SUFU):c.1437C>G (p.Phe479Leu)
NM_016169.4(SUFU):c.1438G>A (p.Asp480Asn) rs1318484622
NM_016169.4(SUFU):c.1438G>C (p.Asp480His)
NM_016169.4(SUFU):c.1442_1451del (p.Ser481fs) rs1324912821
NM_016169.4(SUFU):c.1450C>T (p.His484Tyr) rs2135959641
NM_016169.4(SUFU):c.1451A>G (p.His484Arg)
NM_016169.4(SUFU):c.1453T>G (p.Ter485Glu)
NM_016169.4(SUFU):c.151C>T (p.Pro51Ser) rs2062293449
NM_016169.4(SUFU):c.152C>G (p.Pro51Arg)
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)
NM_016169.4(SUFU):c.182+3A>G rs1589970228
NM_016169.4(SUFU):c.183-4del rs1345403982
NM_016169.4(SUFU):c.187G>A (p.Gly63Ser)
NM_016169.4(SUFU):c.224G>A (p.Arg75Lys) rs1290561880
NM_016169.4(SUFU):c.230T>C (p.Val77Ala)
NM_016169.4(SUFU):c.241T>G (p.Ser81Ala)
NM_016169.4(SUFU):c.241_242delinsGT (p.Ser81Val)
NM_016169.4(SUFU):c.242C>T (p.Ser81Phe)
NM_016169.4(SUFU):c.245C>T (p.Ala82Val)
NM_016169.4(SUFU):c.247A>G (p.Asn83Asp) rs2135620366
NM_016169.4(SUFU):c.254C>G (p.Pro85Arg)
NM_016169.4(SUFU):c.271A>G (p.Ile91Val) rs759030707
NM_016169.4(SUFU):c.278T>G (p.Phe93Cys)
NM_016169.4(SUFU):c.280G>A (p.Gly94Ser)
NM_016169.4(SUFU):c.306C>G (p.Asn102Lys)
NM_016169.4(SUFU):c.331G>A (p.Asp111Asn) rs1590018865
NM_016169.4(SUFU):c.337C>T (p.Pro113Ser)
NM_016169.4(SUFU):c.358T>G (p.Leu120Val) rs1415947980
NM_016169.4(SUFU):c.366T>G (p.Phe122Leu) rs1216193400
NM_016169.4(SUFU):c.367C>A (p.Arg123Ser)
NM_016169.4(SUFU):c.367C>T (p.Arg123Cys) rs202247756
NM_016169.4(SUFU):c.375G>T (p.Lys125Asn)
NM_016169.4(SUFU):c.379G>A (p.Glu127Lys) rs1280071055
NM_016169.4(SUFU):c.383C>G (p.Thr128Ser)
NM_016169.4(SUFU):c.389A>G (p.Glu130Gly)
NM_016169.4(SUFU):c.392C>G (p.Ser131Cys)
NM_016169.4(SUFU):c.430T>G (p.Leu144Val) rs2135743501
NM_016169.4(SUFU):c.439T>C (p.Tyr147His)
NM_016169.4(SUFU):c.442G>A (p.Val148Met) rs763813479
NM_016169.4(SUFU):c.450G>C (p.Gln150His)
NM_016169.4(SUFU):c.456G>T (p.Glu152Asp)
NM_016169.4(SUFU):c.461C>A (p.Thr154Asn)
NM_016169.4(SUFU):c.464T>G (p.Phe155Cys) rs2063414949
NM_016169.4(SUFU):c.466T>C (p.Cys156Arg) rs1554852266
NM_016169.4(SUFU):c.469A>G (p.Ser157Gly) rs2063415039
NM_016169.4(SUFU):c.489G>C (p.Trp163Cys)
NM_016169.4(SUFU):c.490C>T (p.His164Tyr) rs2063415325
NM_016169.4(SUFU):c.493A>G (p.Ser165Gly)
NM_016169.4(SUFU):c.505A>T (p.Asn169Tyr) rs1590061852
NM_016169.4(SUFU):c.509G>A (p.Ser170Asn)
NM_016169.4(SUFU):c.509G>C (p.Ser170Thr)
NM_016169.4(SUFU):c.514T>C (p.Ser172Pro)
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)
NM_016169.4(SUFU):c.539C>T (p.Thr180Ile)
NM_016169.4(SUFU):c.567G>T (p.Gln189His)
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)
NM_016169.4(SUFU):c.607G>A (p.Val203Ile)
NM_016169.4(SUFU):c.613A>G (p.Thr205Ala)
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.645C>G (p.Asn215Lys) rs551772204
NM_016169.4(SUFU):c.647G>A (p.Gly216Glu)
NM_016169.4(SUFU):c.652G>A (p.Gly218Ser)
NM_016169.4(SUFU):c.661G>A (p.Glu221Lys)
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.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.694C>G (p.Pro232Ala) rs1060501110
NM_016169.4(SUFU):c.694C>T (p.Pro232Ser) rs1060501110
NM_016169.4(SUFU):c.695C>T (p.Pro232Leu) rs1240436102
NM_016169.4(SUFU):c.697T>C (p.Trp233Arg) rs1590063333
NM_016169.4(SUFU):c.700C>G (p.Leu234Val)
NM_016169.4(SUFU):c.706A>G (p.Thr236Ala)
NM_016169.4(SUFU):c.710A>G (p.Asp237Gly)
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.714G>A (p.Met238Ile)
NM_016169.4(SUFU):c.716G>A (p.Arg239Gln) rs1403040084
NM_016169.4(SUFU):c.727A>T (p.Thr243Ser) rs762294261
NM_016169.4(SUFU):c.730A>G (p.Ile244Val)
NM_016169.4(SUFU):c.732A>G (p.Ile244Met)
NM_016169.4(SUFU):c.733T>G (p.Phe245Val)
NM_016169.4(SUFU):c.734T>C (p.Phe245Ser) rs1303650670
NM_016169.4(SUFU):c.734T>G (p.Phe245Cys)
NM_016169.4(SUFU):c.742G>C (p.Asp248His) rs1283509771
NM_016169.4(SUFU):c.746C>G (p.Pro249Arg)
NM_016169.4(SUFU):c.746C>T (p.Pro249Leu)
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.756A>C (p.Gln252His) rs1317467424
NM_016169.4(SUFU):c.757-4G>T rs1554852773
NM_016169.4(SUFU):c.773G>A (p.Gly258Asp)
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)
NM_016169.4(SUFU):c.791C>G (p.Ser264Cys)
NM_016169.4(SUFU):c.812C>T (p.Ala271Val)
NM_016169.4(SUFU):c.826G>T (p.Asp276Tyr)
NM_016169.4(SUFU):c.829G>A (p.Asp277Asn)
NM_016169.4(SUFU):c.831C>A (p.Asp277Glu)
NM_016169.4(SUFU):c.836G>A (p.Ser279Asn) rs1486885056
NM_016169.4(SUFU):c.847G>A (p.Glu283Lys) rs1554852789
NM_016169.4(SUFU):c.848A>C (p.Glu283Ala)
NM_016169.4(SUFU):c.853_861dup (p.Asp285_Asp287dup) rs1363458155
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)
NM_016169.4(SUFU):c.865C>T (p.Arg289Trp) rs755961394
NM_016169.4(SUFU):c.868A>G (p.Ser290Gly) rs1406131774
NM_016169.4(SUFU):c.871_879dup (p.Ile291_Ile293dup) rs1590066093
NM_016169.4(SUFU):c.872T>A (p.Ile291Asn)
NM_016169.4(SUFU):c.874T>C (p.Cys292Arg)
NM_016169.4(SUFU):c.877A>C (p.Ile293Leu)
NM_016169.4(SUFU):c.877A>G (p.Ile293Val) rs574002050
NM_016169.4(SUFU):c.881G>A (p.Gly294Asp) rs761234425
NM_016169.4(SUFU):c.882C>T (p.Gly294=) rs2135882176
NM_016169.4(SUFU):c.884C>G (p.Thr295Arg)
NM_016169.4(SUFU):c.887A>G (p.Gln296Arg) rs2135882221
NM_016169.4(SUFU):c.890C>T (p.Pro297Leu) rs1590066137
NM_016169.4(SUFU):c.893G>A (p.Arg298Gln) rs1197687313
NM_016169.4(SUFU):c.898C>T (p.Leu300Phe)
NM_016169.4(SUFU):c.902C>T (p.Ser301Phe) rs1554852823
NM_016169.4(SUFU):c.905G>A (p.Gly302Asp)
NM_016169.4(SUFU):c.906C>T (p.Gly302=)
NM_016169.4(SUFU):c.910+4G>A rs1060501104
NM_016169.4(SUFU):c.911-3C>T
NM_016169.4(SUFU):c.912C>T (p.Asp304=)
NM_016169.4(SUFU):c.913A>G (p.Thr305Ala) rs1590067989
NM_016169.4(SUFU):c.917A>T (p.Glu306Val)
NM_016169.4(SUFU):c.920A>G (p.Gln307Arg)
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.949_954del (p.Glu317_Ile318del) rs2063495678
NM_016169.4(SUFU):c.953T>A (p.Ile318Asn)
NM_016169.4(SUFU):c.956A>G (p.Asn319Ser) rs1479527039
NM_016169.4(SUFU):c.959G>A (p.Ser320Asn) rs753862598
NM_016169.4(SUFU):c.965C>A (p.Pro322His) rs2135888788
NM_016169.4(SUFU):c.968T>A (p.Val323Asp) rs1475601053
NM_016169.4(SUFU):c.971T>C (p.Leu324Pro)
NM_016169.4(SUFU):c.973C>T (p.Pro325Ser)
NM_016169.4(SUFU):c.974C>T (p.Pro325Leu) rs2135888846
NM_016169.4(SUFU):c.979A>T (p.Ile327Phe)
NM_016169.4(SUFU):c.989A>C (p.Gln330Pro)
NM_016169.4(SUFU):c.989A>G (p.Gln330Arg) rs1060501107

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