ClinVar Miner

List of variants in gene POT1 reported as uncertain significance by Ambry Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 514
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_015450.3(POT1):c.670G>A (p.Asp224Asn) rs202187871 0.00012
NM_015450.3(POT1):c.1217C>T (p.Thr406Ile) rs143841721 0.00006
NM_015450.3(POT1):c.1416T>G (p.Ser472Arg) rs146643991 0.00006
NM_015450.3(POT1):c.526G>A (p.Gly176Arg) rs774576173 0.00005
NM_015450.3(POT1):c.1186G>A (p.Asp396Asn) rs148956533 0.00004
NM_015450.3(POT1):c.1442A>G (p.Glu481Gly) rs548024862 0.00004
NM_015450.3(POT1):c.1482A>G (p.Ile494Met) rs764303246 0.00004
NM_015450.3(POT1):c.703G>A (p.Val235Ile) rs753638532 0.00004
NM_015450.3(POT1):c.1088G>A (p.Arg363Gln) rs141407528 0.00003
NM_015450.3(POT1):c.1214C>T (p.Ala405Val) rs904242272 0.00003
NM_015450.3(POT1):c.1256A>G (p.Tyr419Cys) rs770213689 0.00003
NM_015450.3(POT1):c.1295G>A (p.Arg432Gln) rs772590775 0.00003
NM_015450.3(POT1):c.1441G>A (p.Glu481Lys) rs200494750 0.00003
NM_015450.3(POT1):c.1594G>C (p.Ala532Pro) rs537377921 0.00003
NM_015450.3(POT1):c.1742A>G (p.Lys581Arg) rs201023336 0.00003
NM_015450.3(POT1):c.1810G>A (p.Glu604Lys) rs753762757 0.00003
NM_015450.3(POT1):c.71A>G (p.Asn24Ser) rs372235657 0.00003
NM_015450.3(POT1):c.896C>T (p.Ala299Val) rs913532816 0.00003
NM_015450.3(POT1):c.1142A>G (p.His381Arg) rs1342448188 0.00002
NM_015450.3(POT1):c.1183G>A (p.Gly395Ser) rs757373061 0.00002
NM_015450.3(POT1):c.1287A>C (p.Gln429His) rs777842421 0.00002
NM_015450.3(POT1):c.1337C>T (p.Pro446Leu) rs761176134 0.00002
NM_015450.3(POT1):c.1568C>G (p.Ser523Trp) rs139388603 0.00002
NM_015450.3(POT1):c.1569G>A (p.Ser523=) rs773176095 0.00002
NM_015450.3(POT1):c.1606G>A (p.Val536Ile) rs1174783791 0.00002
NM_015450.3(POT1):c.1864T>C (p.Tyr622His) rs188854542 0.00002
NM_015450.3(POT1):c.239G>A (p.Arg80His) rs868664738 0.00002
NM_015450.3(POT1):c.30A>G (p.Ile10Met) rs367937904 0.00002
NM_015450.3(POT1):c.439T>G (p.Ser147Ala) rs766947417 0.00002
NM_015450.3(POT1):c.449T>C (p.Leu150Ser) rs918544320 0.00002
NM_015450.3(POT1):c.623G>A (p.Ser208Asn) rs776459318 0.00002
NM_015450.3(POT1):c.70A>G (p.Asn24Asp) rs201796132 0.00002
NM_015450.3(POT1):c.763A>C (p.Asn255His) rs1260902476 0.00002
NM_015450.3(POT1):c.814G>A (p.Gly272Ser) rs781279819 0.00002
NM_015450.3(POT1):c.950-3T>C rs1345963992 0.00002
NM_015450.3(POT1):c.1007-1G>A rs1584758519 0.00001
NM_015450.3(POT1):c.1021C>G (p.Gln341Glu) rs767757297 0.00001
NM_015450.3(POT1):c.1067C>T (p.Ala356Val) rs1342019926 0.00001
NM_015450.3(POT1):c.1082G>A (p.Arg361His) rs778352298 0.00001
NM_015450.3(POT1):c.1084A>G (p.Ile362Val) rs1460433561 0.00001
NM_015450.3(POT1):c.1106A>G (p.Tyr369Cys) rs763905854 0.00001
NM_015450.3(POT1):c.1164-3T>C rs1322783514 0.00001
NM_015450.3(POT1):c.1213G>A (p.Ala405Thr) rs753851042 0.00001
NM_015450.3(POT1):c.1225C>T (p.Pro409Ser) rs1230052693 0.00001
NM_015450.3(POT1):c.1234A>G (p.Lys412Glu) rs371992419 0.00001
NM_015450.3(POT1):c.1246A>G (p.Thr416Ala) rs761543329 0.00001
NM_015450.3(POT1):c.1255T>C (p.Tyr419His) rs773811344 0.00001
NM_015450.3(POT1):c.1322A>G (p.Asn441Ser) rs1477300313 0.00001
NM_015450.3(POT1):c.1333C>T (p.Leu445Phe) rs1416672170 0.00001
NM_015450.3(POT1):c.1363A>G (p.Ile455Val) rs776965979 0.00001
NM_015450.3(POT1):c.1367A>C (p.Glu456Ala) rs771226403 0.00001
NM_015450.3(POT1):c.1378C>G (p.Leu460Val) rs772428072 0.00001
NM_015450.3(POT1):c.1394A>G (p.Lys465Arg) rs369417655 0.00001
NM_015450.3(POT1):c.1459G>A (p.Asp487Asn) rs1405688297 0.00001
NM_015450.3(POT1):c.1481T>A (p.Ile494Lys) rs774858551 0.00001
NM_015450.3(POT1):c.1505+3A>G rs1227070716 0.00001
NM_015450.3(POT1):c.1534A>G (p.Ile512Val) rs1179111946 0.00001
NM_015450.3(POT1):c.1555G>A (p.Val519Ile) rs776873207 0.00001
NM_015450.3(POT1):c.1559A>G (p.Asp520Gly) rs1370868219 0.00001
NM_015450.3(POT1):c.1562A>G (p.Lys521Arg) rs1482392861 0.00001
NM_015450.3(POT1):c.1565C>T (p.Thr522Ile) rs754745002 0.00001
NM_015450.3(POT1):c.1585G>A (p.Val529Met) rs34973253 0.00001
NM_015450.3(POT1):c.1612C>G (p.Leu538Val) rs768610116 0.00001
NM_015450.3(POT1):c.1617A>T (p.Gln539His) rs973319258 0.00001
NM_015450.3(POT1):c.1630A>G (p.Met544Val) rs762424988 0.00001
NM_015450.3(POT1):c.1678A>G (p.Met560Val) rs1351302431 0.00001
NM_015450.3(POT1):c.1702A>G (p.Ile568Val) rs150719673 0.00001
NM_015450.3(POT1):c.1724T>C (p.Met575Thr) rs1238381156 0.00001
NM_015450.3(POT1):c.1759A>G (p.Met587Val) rs757479590 0.00001
NM_015450.3(POT1):c.175T>G (p.Cys59Gly) rs1418472108 0.00001
NM_015450.3(POT1):c.1832A>G (p.Asn611Ser) rs376707680 0.00001
NM_015450.3(POT1):c.1865A>G (p.Tyr622Cys) rs760062934 0.00001
NM_015450.3(POT1):c.1870A>G (p.Ile624Val) rs1410012081 0.00001
NM_015450.3(POT1):c.197A>G (p.Tyr66Cys) rs776085350 0.00001
NM_015450.3(POT1):c.19A>G (p.Thr7Ala) rs1584792050 0.00001
NM_015450.3(POT1):c.211A>G (p.Ile71Val) rs776844142 0.00001
NM_015450.3(POT1):c.224A>G (p.Asn75Ser) rs1044174795 0.00001
NM_015450.3(POT1):c.238C>T (p.Arg80Cys) rs778692211 0.00001
NM_015450.3(POT1):c.290C>A (p.Thr97Asn) rs1436205180 0.00001
NM_015450.3(POT1):c.298G>A (p.Gly100Ser) rs1377594973 0.00001
NM_015450.3(POT1):c.31T>C (p.Tyr11His) rs1584792034 0.00001
NM_015450.3(POT1):c.323G>C (p.Gly108Ala) rs1290433563 0.00001
NM_015450.3(POT1):c.335C>T (p.Ala112Val) rs1795650931 0.00001
NM_015450.3(POT1):c.342C>G (p.Ile114Met) rs989904335 0.00001
NM_015450.3(POT1):c.343A>C (p.Ile115Leu) rs755644182 0.00001
NM_015450.3(POT1):c.344T>C (p.Ile115Thr) rs749877603 0.00001
NM_015450.3(POT1):c.395T>C (p.Met132Thr) rs564097106 0.00001
NM_015450.3(POT1):c.409C>T (p.Arg137Cys) rs765706794 0.00001
NM_015450.3(POT1):c.43A>C (p.Asn15His) rs1554434768 0.00001
NM_015450.3(POT1):c.44A>G (p.Asn15Ser) rs764821384 0.00001
NM_015450.3(POT1):c.475A>G (p.Met159Val) rs1449504013 0.00001
NM_015450.3(POT1):c.485T>A (p.Phe162Tyr) rs1357083058 0.00001
NM_015450.3(POT1):c.512A>G (p.Lys171Arg) rs1284442583 0.00001
NM_015450.3(POT1):c.535T>C (p.Phe179Leu) rs775453323 0.00001
NM_015450.3(POT1):c.546+5A>G rs977061425 0.00001
NM_015450.3(POT1):c.546G>A (p.Lys182=) rs1280084769 0.00001
NM_015450.3(POT1):c.547-3C>A rs770890978 0.00001
NM_015450.3(POT1):c.547G>A (p.Val183Ile) rs1186225134 0.00001
NM_015450.3(POT1):c.557G>A (p.Gly186Asp) rs1205880072 0.00001
NM_015450.3(POT1):c.563G>C (p.Arg188Thr) rs1161774277 0.00001
NM_015450.3(POT1):c.635G>A (p.Arg212Gln) rs746903370 0.00001
NM_015450.3(POT1):c.653T>C (p.Ile218Thr) rs376770473 0.00001
NM_015450.3(POT1):c.657C>A (p.Asp219Glu) rs1795515779 0.00001
NM_015450.3(POT1):c.688G>A (p.Ala230Thr) rs1315178609 0.00001
NM_015450.3(POT1):c.725A>G (p.Tyr242Cys) rs1188122279 0.00001
NM_015450.3(POT1):c.73G>A (p.Val25Ile) rs375825837 0.00001
NM_015450.3(POT1):c.753G>A (p.Met251Ile) rs1172142052 0.00001
NM_015450.3(POT1):c.768G>C (p.Gln256His) rs577386630 0.00001
NM_015450.3(POT1):c.77A>G (p.Tyr26Cys) rs1197625483 0.00001
NM_015450.3(POT1):c.841A>G (p.Ser281Gly) rs780098976 0.00001
NM_015450.3(POT1):c.853G>A (p.Val285Met) rs1795350062 0.00001
NM_015450.3(POT1):c.870-3T>C rs1291756890 0.00001
NM_015450.3(POT1):c.889T>G (p.Leu297Val) rs762044659 0.00001
NM_015450.3(POT1):c.898A>T (p.Asn300Tyr) rs774946163 0.00001
NM_015450.3(POT1):c.913G>A (p.Val305Ile) rs1444104997 0.00001
NM_015450.3(POT1):c.916A>G (p.Ile306Val) rs1415345156 0.00001
NM_015450.3(POT1):c.923A>G (p.Gln308Arg) rs1156231311 0.00001
NM_015450.3(POT1):c.938A>T (p.Asp313Val) rs1584764879 0.00001
NM_015450.3(POT1):c.-4A>G
NM_015450.3(POT1):c.10-3T>C rs1796393484
NM_015450.3(POT1):c.10-5T>G
NM_015450.3(POT1):c.1003A>G (p.Thr335Ala)
NM_015450.3(POT1):c.1006+2T>C rs1795183662
NM_015450.3(POT1):c.1006+3A>G rs2116483768
NM_015450.3(POT1):c.1006+5G>A
NM_015450.3(POT1):c.1007-2_1009del rs754005964
NM_015450.3(POT1):c.1009C>T (p.Leu337Phe) rs1795066742
NM_015450.3(POT1):c.100C>G (p.Pro34Ala)
NM_015450.3(POT1):c.100C>T (p.Pro34Ser)
NM_015450.3(POT1):c.1016A>C (p.Asp339Ala)
NM_015450.3(POT1):c.1023G>T (p.Gln341His)
NM_015450.3(POT1):c.1025A>G (p.Tyr342Cys)
NM_015450.3(POT1):c.1025A>T (p.Tyr342Phe)
NM_015450.3(POT1):c.1030G>A (p.Glu344Lys) rs951589289
NM_015450.3(POT1):c.1036A>C (p.Thr346Pro)
NM_015450.3(POT1):c.1040C>T (p.Pro347Leu) rs775456070
NM_015450.3(POT1):c.1046G>A (p.Cys349Tyr)
NM_015450.3(POT1):c.104C>A (p.Pro35Gln)
NM_015450.3(POT1):c.1051A>C (p.Ile351Leu)
NM_015450.3(POT1):c.1069C>G (p.Pro357Ala) rs748578303
NM_015450.3(POT1):c.1072CAA[1] (p.Gln359del) rs1461765375
NM_015450.3(POT1):c.1076A>G (p.Gln359Arg)
NM_015450.3(POT1):c.1078T>C (p.Tyr360His) rs1554420630
NM_015450.3(POT1):c.1079A>T (p.Tyr360Phe)
NM_015450.3(POT1):c.107A>G (p.Tyr36Cys) rs1057524691
NM_015450.3(POT1):c.1081C>T (p.Arg361Cys) rs372317646
NM_015450.3(POT1):c.1082G>T (p.Arg361Leu) rs778352298
NM_015450.3(POT1):c.1088G>T (p.Arg363Leu)
NM_015450.3(POT1):c.1097T>C (p.Leu366Ser) rs1554420620
NM_015450.3(POT1):c.109C>A (p.Leu37Ile)
NM_015450.3(POT1):c.1100G>A (p.Arg367Lys)
NM_015450.3(POT1):c.1102T>A (p.Ser368Thr)
NM_015450.3(POT1):c.1112C>T (p.Pro371Leu)
NM_015450.3(POT1):c.1117A>G (p.Arg373Gly) rs971657671
NM_015450.3(POT1):c.1118G>A (p.Arg373Lys)
NM_015450.3(POT1):c.1124T>C (p.Phe375Ser)
NM_015450.3(POT1):c.112A>T (p.Ser38Cys)
NM_015450.3(POT1):c.1130C>A (p.Ser377Tyr)
NM_015450.3(POT1):c.1132G>C (p.Val378Leu) rs1245805221
NM_015450.3(POT1):c.1139T>C (p.Leu380Pro)
NM_015450.3(POT1):c.113G>A (p.Ser38Asn) rs1796390486
NM_015450.3(POT1):c.113G>T (p.Ser38Ile) rs1796390486
NM_015450.3(POT1):c.114C>G (p.Ser38Arg) rs1554434730
NM_015450.3(POT1):c.1150A>G (p.Lys384Glu) rs2116467412
NM_015450.3(POT1):c.1153T>C (p.Cys385Arg)
NM_015450.3(POT1):c.1156C>A (p.His386Asn) rs1168740597
NM_015450.3(POT1):c.1157A>G (p.His386Arg)
NM_015450.3(POT1):c.1161G>T (p.Leu387Phe) rs1584758342
NM_015450.3(POT1):c.1163+3_1163+6del rs1407823530
NM_015450.3(POT1):c.1164-4T>G rs1584757391
NM_015450.3(POT1):c.1164G>T (p.Leu388=) rs1405485811
NM_015450.3(POT1):c.116A>G (p.Lys39Arg) rs2116629538
NM_015450.3(POT1):c.1171G>A (p.Val391Ile)
NM_015450.3(POT1):c.1172T>C (p.Val391Ala)
NM_015450.3(POT1):c.1178A>T (p.His393Leu)
NM_015450.3(POT1):c.1181A>G (p.Glu394Gly) rs781625332
NM_015450.3(POT1):c.1184G>A (p.Gly395Asp) rs1584757364
NM_015450.3(POT1):c.1186G>C (p.Asp396His)
NM_015450.3(POT1):c.1187A>G (p.Asp396Gly) rs1584757355
NM_015450.3(POT1):c.1192G>T (p.Asp398Tyr)
NM_015450.3(POT1):c.1197A>G (p.Ile399Met) rs1554420158
NM_015450.3(POT1):c.1199T>C (p.Ile400Thr) rs1562980983
NM_015450.3(POT1):c.119G>A (p.Gly40Glu) rs2116629512
NM_015450.3(POT1):c.119G>C (p.Gly40Ala)
NM_015450.3(POT1):c.1205A>G (p.Gln402Arg) rs1646830386
NM_015450.3(POT1):c.1210G>A (p.Gly404Ser)
NM_015450.3(POT1):c.1219A>G (p.Lys407Glu) rs766397437
NM_015450.3(POT1):c.1223C>T (p.Thr408Ile) rs2116461902
NM_015450.3(POT1):c.1229A>G (p.Asp410Gly) rs1562980939
NM_015450.3(POT1):c.124+5G>T rs1027069149
NM_015450.3(POT1):c.1244A>G (p.Asn415Ser)
NM_015450.3(POT1):c.1247C>T (p.Thr416Ile) rs1795017352
NM_015450.3(POT1):c.125-3del rs1584777876
NM_015450.3(POT1):c.1258G>T (p.Asp420Tyr) rs1795016740
NM_015450.3(POT1):c.125A>G (p.Asp42Gly) rs1562997283
NM_015450.3(POT1):c.1262C>T (p.Ser421Leu) rs1413163992
NM_015450.3(POT1):c.1267A>T (p.Ile423Phe)
NM_015450.3(POT1):c.1268T>A (p.Ile423Asn)
NM_015450.3(POT1):c.1270T>C (p.Trp424Arg) rs1584757234
NM_015450.3(POT1):c.1273A>G (p.Thr425Ala) rs1173735920
NM_015450.3(POT1):c.1274C>T (p.Thr425Ile)
NM_015450.3(POT1):c.1280A>C (p.Lys427Thr) rs1187946222
NM_015450.3(POT1):c.1280A>G (p.Lys427Arg)
NM_015450.3(POT1):c.1285C>A (p.Gln429Lys) rs1584757207
NM_015450.3(POT1):c.1286A>G (p.Gln429Arg)
NM_015450.3(POT1):c.1289A>C (p.Lys430Thr) rs2116461480
NM_015450.3(POT1):c.128A>G (p.Tyr43Cys) rs1584777861
NM_015450.3(POT1):c.1291G>A (p.Gly431Arg)
NM_015450.3(POT1):c.1295G>C (p.Arg432Pro)
NM_015450.3(POT1):c.1304C>G (p.Ala435Gly)
NM_015450.3(POT1):c.1315G>A (p.Val439Met) rs547000637
NM_015450.3(POT1):c.1319A>G (p.Lys440Arg)
NM_015450.3(POT1):c.1322A>C (p.Asn441Thr) rs1477300313
NM_015450.3(POT1):c.1324A>T (p.Asn442Tyr) rs2116461234
NM_015450.3(POT1):c.1327G>A (p.Gly443Ser)
NM_015450.3(POT1):c.1327G>T (p.Gly443Cys)
NM_015450.3(POT1):c.1340T>A (p.Leu447His) rs1450240396
NM_015450.3(POT1):c.1348G>A (p.Glu450Lys)
NM_015450.3(POT1):c.1351T>C (p.Cys451Arg)
NM_015450.3(POT1):c.1358T>G (p.Leu453Arg)
NM_015450.3(POT1):c.1361T>G (p.Leu454Trp)
NM_015450.3(POT1):c.1364T>C (p.Ile455Thr)
NM_015450.3(POT1):c.1369+1_1369+5del rs750755822
NM_015450.3(POT1):c.1369G>A (p.Gly457Arg)
NM_015450.3(POT1):c.1370-3C>G rs1584753403
NM_015450.3(POT1):c.1372G>A (p.Gly458Ser) rs1794876267
NM_015450.3(POT1):c.1372G>T (p.Gly458Cys)
NM_015450.3(POT1):c.1373G>A (p.Gly458Asp) rs1562977976
NM_015450.3(POT1):c.1373G>T (p.Gly458Val)
NM_015450.3(POT1):c.1381A>G (p.Ser461Gly)
NM_015450.3(POT1):c.1383T>A (p.Ser461Arg)
NM_015450.3(POT1):c.1393A>G (p.Lys465Glu) rs1246723310
NM_015450.3(POT1):c.1396C>G (p.Leu466Val) rs958828560
NM_015450.3(POT1):c.13C>A (p.Pro5Thr) rs1378378085
NM_015450.3(POT1):c.1400C>T (p.Ser467Leu) rs1410842025
NM_015450.3(POT1):c.1402A>G (p.Asn468Asp)
NM_015450.3(POT1):c.1412A>G (p.Asn471Ser)
NM_015450.3(POT1):c.1414A>C (p.Ser472Arg) rs769757327
NM_015450.3(POT1):c.1414A>T (p.Ser472Cys)
NM_015450.3(POT1):c.1415G>A (p.Ser472Asn)
NM_015450.3(POT1):c.1417G>A (p.Val473Ile)
NM_015450.3(POT1):c.1423C>G (p.Pro475Ala)
NM_015450.3(POT1):c.1426G>A (p.Val476Met)
NM_015450.3(POT1):c.142A>C (p.Thr48Pro)
NM_015450.3(POT1):c.142A>G (p.Thr48Ala) rs1298555006
NM_015450.3(POT1):c.1435G>A (p.Gly479Ser)
NM_015450.3(POT1):c.143C>T (p.Thr48Ile) rs1002823146
NM_015450.3(POT1):c.1446C>G (p.Asp482Glu)
NM_015450.3(POT1):c.1450G>A (p.Glu484Lys) rs756511762
NM_015450.3(POT1):c.1480A>C (p.Ile494Leu) rs1794871637
NM_015450.3(POT1):c.1481T>C (p.Ile494Thr) rs774858551
NM_015450.3(POT1):c.1487G>A (p.Gly496Glu)
NM_015450.3(POT1):c.148G>A (p.Val50Met)
NM_015450.3(POT1):c.1490C>T (p.Thr497Ile) rs879897044
NM_015450.3(POT1):c.1494A>G (p.Ile498Met) rs775892143
NM_015450.3(POT1):c.1495C>T (p.His499Tyr)
NM_015450.3(POT1):c.1501T>C (p.Tyr501His) rs776299237
NM_015450.3(POT1):c.1502A>G (p.Tyr501Cys) rs1226322093
NM_015450.3(POT1):c.1504G>A (p.Gly502Arg)
NM_015450.3(POT1):c.150G>A (p.Val50=) rs1795855228
NM_015450.3(POT1):c.1513C>G (p.Gln505Glu)
NM_015450.3(POT1):c.1514A>G (p.Gln505Arg) rs1794705650
NM_015450.3(POT1):c.1515G>C (p.Gln505His)
NM_015450.3(POT1):c.1516T>C (p.Cys506Arg)
NM_015450.3(POT1):c.1517G>A (p.Cys506Tyr)
NM_015450.3(POT1):c.1520C>T (p.Ser507Phe)
NM_015450.3(POT1):c.1523G>T (p.Ser508Ile) rs144522387
NM_015450.3(POT1):c.1527G>C (p.Leu509Phe)
NM_015450.3(POT1):c.1532C>T (p.Ser511Phe) rs1554416456
NM_015450.3(POT1):c.1537C>A (p.Gln513Lys)
NM_015450.3(POT1):c.1548T>G (p.Asn516Lys)
NM_015450.3(POT1):c.1550C>A (p.Ser517Tyr)
NM_015450.3(POT1):c.1554G>A (p.Leu518=)
NM_015450.3(POT1):c.1555G>T (p.Val519Phe) rs776873207
NM_015450.3(POT1):c.1564A>G (p.Thr522Ala) rs2116422065
NM_015450.3(POT1):c.1576C>T (p.Pro526Ser) rs1794703492
NM_015450.3(POT1):c.1589C>A (p.Ala530Glu)
NM_015450.3(POT1):c.1591G>A (p.Glu531Lys)
NM_015450.3(POT1):c.1594+3T>C
NM_015450.3(POT1):c.1595-4_1595-3del
NM_015450.3(POT1):c.1601G>A (p.Gly534Asp) rs1413291646
NM_015450.3(POT1):c.1603A>G (p.Ile535Val)
NM_015450.3(POT1):c.1606G>C (p.Val536Leu)
NM_015450.3(POT1):c.1607T>C (p.Val536Ala) rs761551156
NM_015450.3(POT1):c.160A>G (p.Asn54Asp) rs1398488689
NM_015450.3(POT1):c.1621G>A (p.Val541Met)
NM_015450.3(POT1):c.1634C>T (p.Thr545Ile) rs2116414961
NM_015450.3(POT1):c.163G>A (p.Val55Ile) rs2116567668
NM_015450.3(POT1):c.1647T>A (p.Asp549Glu)
NM_015450.3(POT1):c.1648_1683dup (p.Asp550_Asp561dup) rs1584747723
NM_015450.3(POT1):c.1658G>A (p.Gly553Glu) rs1584747757
NM_015450.3(POT1):c.1664T>C (p.Leu555Pro) rs1584747751
NM_015450.3(POT1):c.1673A>G (p.Tyr558Cys) rs2116414736
NM_015450.3(POT1):c.1678A>C (p.Met560Leu) rs1351302431
NM_015450.3(POT1):c.1678A>T (p.Met560Leu) rs1351302431
NM_015450.3(POT1):c.1680G>A (p.Met560Ile)
NM_015450.3(POT1):c.1682A>G (p.Asp561Gly)
NM_015450.3(POT1):c.1686+4A>G rs907669138
NM_015450.3(POT1):c.1686+4_1686+7del rs1584747718
NM_015450.3(POT1):c.1687-2del
NM_015450.3(POT1):c.1698C>G (p.Phe566Leu)
NM_015450.3(POT1):c.1705C>G (p.Pro569Ala) rs1388805721
NM_015450.3(POT1):c.1708G>A (p.Ala570Thr)
NM_015450.3(POT1):c.1709C>T (p.Ala570Val)
NM_015450.3(POT1):c.1711T>G (p.Ser571Ala) rs1794604371
NM_015450.3(POT1):c.1716A>T (p.Glu572Asp)
NM_015450.3(POT1):c.1717G>T (p.Val573Phe)
NM_015450.3(POT1):c.1729G>A (p.Asp577Asn)
NM_015450.3(POT1):c.1729G>T (p.Asp577Tyr) rs764901825
NM_015450.3(POT1):c.172A>G (p.Thr58Ala)
NM_015450.3(POT1):c.1734C>G (p.Asp578Glu) rs1584746419
NM_015450.3(POT1):c.1735C>A (p.Leu579Ile)
NM_015450.3(POT1):c.1739A>G (p.Gln580Arg)
NM_015450.3(POT1):c.1746T>G (p.Ser582Arg) rs1222395233
NM_015450.3(POT1):c.1748T>C (p.Val583Ala)
NM_015450.3(POT1):c.1751A>C (p.Asp584Ala)
NM_015450.3(POT1):c.1753A>G (p.Met585Val) rs1794602691
NM_015450.3(POT1):c.1755G>A (p.Met585Ile)
NM_015450.3(POT1):c.1756A>G (p.Ile586Val) rs1554415137
NM_015450.3(POT1):c.1765A>G (p.Met589Val) rs1794602270
NM_015450.3(POT1):c.1765_1766del (p.Met589fs) rs771968149
NM_015450.3(POT1):c.1766T>C (p.Met589Thr) rs1375637075
NM_015450.3(POT1):c.176G>A (p.Cys59Tyr) rs763187597
NM_015450.3(POT1):c.1771T>C (p.Cys591Arg)
NM_015450.3(POT1):c.1775C>G (p.Pro592Arg)
NM_015450.3(POT1):c.1775C>T (p.Pro592Leu) rs1436064065
NM_015450.3(POT1):c.1777C>T (p.Pro593Ser)
NM_015450.3(POT1):c.1781_1782del (p.Gly594fs) rs1562972380
NM_015450.3(POT1):c.1783A>G (p.Ile595Val)
NM_015450.3(POT1):c.1785A>G (p.Ile595Met) rs1794601418
NM_015450.3(POT1):c.1789A>T (p.Ile597Phe)
NM_015450.3(POT1):c.1795G>T (p.Ala599Ser)
NM_015450.3(POT1):c.1796C>A (p.Ala599Glu)
NM_015450.3(POT1):c.1799A>G (p.Tyr600Cys)
NM_015450.3(POT1):c.179T>G (p.Leu60Arg) rs1584777805
NM_015450.3(POT1):c.17C>A (p.Ala6Glu)
NM_015450.3(POT1):c.1801C>A (p.Pro601Thr) rs1584745610
NM_015450.3(POT1):c.1801C>T (p.Pro601Ser) rs1584745610
NM_015450.3(POT1):c.1802C>T (p.Pro601Leu) rs779050803
NM_015450.3(POT1):c.1805G>T (p.Trp602Leu) rs996577534
NM_015450.3(POT1):c.1823A>G (p.Lys608Arg)
NM_015450.3(POT1):c.1829A>G (p.Tyr610Cys) rs1363813360
NM_015450.3(POT1):c.1831A>G (p.Asn611Asp) rs1794570957
NM_015450.3(POT1):c.1834G>A (p.Val612Ile) rs1554414690
NM_015450.3(POT1):c.1834G>C (p.Val612Leu) rs1554414690
NM_015450.3(POT1):c.1850A>C (p.Asp617Ala) rs907969253
NM_015450.3(POT1):c.1858_1860del (p.Ile620del) rs1193436506
NM_015450.3(POT1):c.185T>G (p.Phe62Cys)
NM_015450.3(POT1):c.1860T>G (p.Ile620Met) rs1584745529
NM_015450.3(POT1):c.1869_1877delinsAATTTTGG (p.Phe625fs) rs1584745506
NM_015450.3(POT1):c.1872T>G (p.Ile624Met) rs1794569508
NM_015450.3(POT1):c.1875T>G (p.Phe625Leu)
NM_015450.3(POT1):c.1884del (p.Val629fs)
NM_015450.3(POT1):c.188G>C (p.Ser63Thr) rs1584777788
NM_015450.3(POT1):c.1891G>A (p.Glu631Lys) rs1584745486
NM_015450.3(POT1):c.1895A>G (p.Asp632Gly)
NM_015450.3(POT1):c.1898del (p.Val633fs)
NM_015450.3(POT1):c.191G>A (p.Gly64Glu)
NM_015450.3(POT1):c.195C>A (p.Asn65Lys) rs1584777781
NM_015450.3(POT1):c.202G>A (p.Ala68Thr)
NM_015450.3(POT1):c.205C>T (p.Leu69Phe) rs905571705
NM_015450.3(POT1):c.208C>T (p.Pro70Ser)
NM_015450.3(POT1):c.20C>A (p.Thr7Lys)
NM_015450.3(POT1):c.214A>G (p.Ile72Val)
NM_015450.3(POT1):c.223A>C (p.Asn75His)
NM_015450.3(POT1):c.226G>A (p.Gly76Arg) rs1584777738
NM_015450.3(POT1):c.230A>G (p.Asp77Gly) rs1795852217
NM_015450.3(POT1):c.232A>G (p.Ile78Val)
NM_015450.3(POT1):c.235G>A (p.Val79Ile)
NM_015450.3(POT1):c.24T>G (p.Asn8Lys)
NM_015450.3(POT1):c.253A>G (p.Lys85Glu)
NM_015450.3(POT1):c.255+5A>G rs1584777694
NM_015450.3(POT1):c.255G>A (p.Lys85=) rs747851551
NM_015450.3(POT1):c.256-3T>C rs760801846
NM_015450.3(POT1):c.256-5C>A
NM_015450.3(POT1):c.260A>G (p.Gln87Arg)
NM_015450.3(POT1):c.282G>C (p.Gln94His) rs948259490
NM_015450.3(POT1):c.286A>T (p.Ile96Phe)
NM_015450.3(POT1):c.28A>C (p.Ile10Leu) rs1584792042
NM_015450.3(POT1):c.295T>C (p.Ser99Pro)
NM_015450.3(POT1):c.308C>G (p.Ser103Cys)
NM_015450.3(POT1):c.314C>T (p.Thr105Met) rs1554426994
NM_015450.3(POT1):c.320A>C (p.Glu107Ala)
NM_015450.3(POT1):c.323G>A (p.Gly108Glu) rs1290433563
NM_015450.3(POT1):c.334G>A (p.Ala112Thr)
NM_015450.3(POT1):c.346C>T (p.Pro116Ser) rs1795650286
NM_015450.3(POT1):c.34A>G (p.Thr12Ala)
NM_015450.3(POT1):c.350G>A (p.Arg117His) rs1385542313
NM_015450.3(POT1):c.352A>G (p.Thr118Ala)
NM_015450.3(POT1):c.355T>C (p.Ser119Pro)
NM_015450.3(POT1):c.359G>C (p.Ser120Thr)
NM_015450.3(POT1):c.360C>A (p.Ser120Arg)
NM_015450.3(POT1):c.376A>G (p.Thr126Ala)
NM_015450.3(POT1):c.37C>T (p.Pro13Ser) rs1584792028
NM_015450.3(POT1):c.385G>A (p.Asp129Asn) rs1795649242
NM_015450.3(POT1):c.388C>T (p.His130Tyr) rs1554426951
NM_015450.3(POT1):c.410G>T (p.Arg137Leu)
NM_015450.3(POT1):c.415T>G (p.Trp139Gly)
NM_015450.3(POT1):c.437C>T (p.Pro146Leu) rs1554426915
NM_015450.3(POT1):c.446C>T (p.Thr149Ile)
NM_015450.3(POT1):c.461G>A (p.Cys154Tyr)
NM_015450.3(POT1):c.463G>A (p.Asp155Asn) rs1562993312
NM_015450.3(POT1):c.463G>C (p.Asp155His)
NM_015450.3(POT1):c.466G>A (p.Val156Ile) rs1795646926
NM_015450.3(POT1):c.46C>A (p.Gln16Lys)
NM_015450.3(POT1):c.479A>G (p.Gln160Arg) rs1584772936
NM_015450.3(POT1):c.486T>C (p.Phe162=)
NM_015450.3(POT1):c.490C>G (p.Leu164Val)
NM_015450.3(POT1):c.4T>A (p.Ser2Thr)
NM_015450.3(POT1):c.508G>A (p.Gly170Ser) rs1584772921
NM_015450.3(POT1):c.515C>G (p.Ala172Gly)
NM_015450.3(POT1):c.515C>T (p.Ala172Val)
NM_015450.3(POT1):c.527G>A (p.Gly176Glu)
NM_015450.3(POT1):c.527G>C (p.Gly176Ala)
NM_015450.3(POT1):c.529G>A (p.Ala177Thr) rs1795645494
NM_015450.3(POT1):c.533C>T (p.Ser178Leu) rs1584772907
NM_015450.3(POT1):c.53A>G (p.Lys18Arg) rs1584792012
NM_015450.3(POT1):c.546+2T>C
NM_015450.3(POT1):c.546+3A>G
NM_015450.3(POT1):c.546+4C>A rs1795644961
NM_015450.3(POT1):c.547-3C>T rs770890978
NM_015450.3(POT1):c.547G>C (p.Val183Leu)
NM_015450.3(POT1):c.550T>C (p.Trp184Arg) rs2116526752
NM_015450.3(POT1):c.559A>G (p.Thr187Ala) rs1562990976
NM_015450.3(POT1):c.56G>A (p.Gly19Asp)
NM_015450.3(POT1):c.56G>T (p.Gly19Val)
NM_015450.3(POT1):c.571T>C (p.Phe191Leu)
NM_015450.3(POT1):c.575C>T (p.Pro192Leu)
NM_015450.3(POT1):c.577T>C (p.Ser193Pro) rs752854457
NM_015450.3(POT1):c.580T>G (p.Trp194Gly)
NM_015450.3(POT1):c.586G>A (p.Val196Ile)
NM_015450.3(POT1):c.58G>T (p.Gly20Cys) rs1796391890
NM_015450.3(POT1):c.592A>C (p.Ile198Leu) rs1554425771
NM_015450.3(POT1):c.598G>A (p.Asp200Asn) rs764943552
NM_015450.3(POT1):c.601C>G (p.Leu201Val) rs2116526207
NM_015450.3(POT1):c.617A>G (p.Asp206Gly) rs1562990934
NM_015450.3(POT1):c.619T>A (p.Leu207Ile)
NM_015450.3(POT1):c.626A>T (p.His209Leu)
NM_015450.3(POT1):c.634C>T (p.Arg212Trp) rs1444551164
NM_015450.3(POT1):c.644A>C (p.Asn215Thr) rs1795516349
NM_015450.3(POT1):c.649A>T (p.Thr217Ser)
NM_015450.3(POT1):c.650C>A (p.Thr217Lys)
NM_015450.3(POT1):c.655G>T (p.Asp219Tyr)
NM_015450.3(POT1):c.664G>A (p.Val222Ile)
NM_015450.3(POT1):c.667T>C (p.Tyr223His)
NM_015450.3(POT1):c.668A>G (p.Tyr223Cys) rs1795515617
NM_015450.3(POT1):c.671A>G (p.Asp224Gly) rs1584769825
NM_015450.3(POT1):c.674A>G (p.Asn225Ser)
NM_015450.3(POT1):c.675C>A (p.Asn225Lys) rs1050055964
NM_015450.3(POT1):c.676C>T (p.His226Tyr)
NM_015450.3(POT1):c.677A>G (p.His226Arg) rs2116525298
NM_015450.3(POT1):c.693A>T (p.Arg231Ser) rs1795514618
NM_015450.3(POT1):c.702+1G>A rs2116525031
NM_015450.3(POT1):c.703-3T>G rs1584765787
NM_015450.3(POT1):c.703-3del rs1584765789
NM_015450.3(POT1):c.703G>T (p.Val235Phe)
NM_015450.3(POT1):c.704T>C (p.Val235Ala)
NM_015450.3(POT1):c.721A>G (p.Ile241Val)
NM_015450.3(POT1):c.723C>G (p.Ile241Met)
NM_015450.3(POT1):c.740A>G (p.Lys247Arg) rs1795354672
NM_015450.3(POT1):c.753G>T (p.Met251Ile)
NM_015450.3(POT1):c.755A>G (p.Asn252Ser)
NM_015450.3(POT1):c.773T>C (p.Met258Thr) rs1584765693
NM_015450.3(POT1):c.779G>A (p.Ser260Asn) rs1323715274
NM_015450.3(POT1):c.790C>G (p.His264Asp)
NM_015450.3(POT1):c.793C>G (p.Leu265Val)
NM_015450.3(POT1):c.797A>G (p.His266Arg) rs1584765678
NM_015450.3(POT1):c.800G>A (p.Gly267Glu) rs2116504781
NM_015450.3(POT1):c.806C>G (p.Thr269Ser)
NM_015450.3(POT1):c.809G>A (p.Ser270Asn) rs587777477
NM_015450.3(POT1):c.814G>C (p.Gly272Arg)
NM_015450.3(POT1):c.817C>T (p.Arg273Trp) rs1554423983
NM_015450.3(POT1):c.823A>G (p.Ile275Val) rs1584765612
NM_015450.3(POT1):c.826A>G (p.Arg276Gly) rs2116504536
NM_015450.3(POT1):c.828G>T (p.Arg276Ser) rs76496261
NM_015450.3(POT1):c.834G>C (p.Leu278Phe)
NM_015450.3(POT1):c.834G>T (p.Leu278Phe) rs754958636
NM_015450.3(POT1):c.839A>G (p.Glu280Gly) rs1562987653
NM_015450.3(POT1):c.847T>G (p.Ser283Ala) rs1584765580
NM_015450.3(POT1):c.856G>A (p.Asp286Asn) rs1460322063
NM_015450.3(POT1):c.85G>C (p.Val29Leu)
NM_015450.3(POT1):c.865A>G (p.Lys289Glu)
NM_015450.3(POT1):c.869+4del rs1445280218
NM_015450.3(POT1):c.870-57_882dup
NM_015450.3(POT1):c.871G>A (p.Asp291Asn)
NM_015450.3(POT1):c.883G>C (p.Ala295Pro) rs1584764955
NM_015450.3(POT1):c.895G>A (p.Ala299Thr) rs149273459
NM_015450.3(POT1):c.898A>G (p.Asn300Asp)
NM_015450.3(POT1):c.9+4_9+6del rs1442340607
NM_015450.3(POT1):c.902A>G (p.Gln301Arg)
NM_015450.3(POT1):c.905A>G (p.His302Arg)
NM_015450.3(POT1):c.908C>T (p.Ser303Leu) rs1795316757
NM_015450.3(POT1):c.923A>T (p.Gln308Leu)
NM_015450.3(POT1):c.925T>C (p.Ser309Pro) rs1584764901
NM_015450.3(POT1):c.92T>G (p.Phe31Cys)
NM_015450.3(POT1):c.937G>A (p.Asp313Asn) rs770779418
NM_015450.3(POT1):c.937G>T (p.Asp313Tyr) rs770779418
NM_015450.3(POT1):c.940A>G (p.Ser314Gly)
NM_015450.3(POT1):c.949+4A>G
NM_015450.3(POT1):c.949A>C (p.Ser317Arg) rs1554423487
NM_015450.3(POT1):c.949A>G (p.Ser317Gly) rs1554423487
NM_015450.3(POT1):c.950-1G>A
NM_015450.3(POT1):c.950G>A (p.Ser317Asn)
NM_015450.3(POT1):c.970T>G (p.Tyr324Asp)
NM_015450.3(POT1):c.973G>A (p.Glu325Lys) rs1554421987
NM_015450.3(POT1):c.976G>A (p.Val326Ile) rs1407472208
NM_015450.3(POT1):c.976G>C (p.Val326Leu)
NM_015450.3(POT1):c.982A>G (p.Arg328Gly) rs1795184644
NM_015450.3(POT1):c.984A>T (p.Arg328Ser) rs1584761529
NM_015450.3(POT1):c.986G>A (p.Cys329Tyr) rs1472832603
NM_015450.3(POT1):c.989A>G (p.Gln330Arg) rs2116483950
NM_015450.3(POT1):c.98A>C (p.Lys33Thr)
NM_015450.3(POT1):c.995T>C (p.Leu332Pro)
NM_015450.3(POT1):c.99G>T (p.Lys33Asn)

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.