ClinVar Miner

List of variants in gene POT1 reported as uncertain significance for Melanoma, cutaneous malignant, susceptibility to, 10

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Gene type:
ClinVar version:
Total variants: 218
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HGVS dbSNP
NC_000007.13:g.(?_124464006)_(124537237_?)del
NC_000007.13:g.(?_124464010)_(124499172_?)dup
NC_000007.13:g.(?_124493020)_(124493198_?)del
NM_015450.2(POT1):c.1370-8_1370-6delCTT rs1158098049
NM_015450.2(POT1):c.9+4_9+6delAGA rs1442340607
NM_015450.3(POT1):c.10-1G>A
NM_015450.3(POT1):c.10-2A>C rs1554434788
NM_015450.3(POT1):c.1007-1G>A
NM_015450.3(POT1):c.1013C>T (p.Thr338Ile) rs1562981991
NM_015450.3(POT1):c.1021C>G (p.Gln341Glu)
NM_015450.3(POT1):c.1069C>G (p.Pro357Ala)
NM_015450.3(POT1):c.1071del (p.Gln358fs) rs1562981913
NM_015450.3(POT1):c.1071dup (p.Gln358fs) rs750470470
NM_015450.3(POT1):c.1072_1074CAA[1] (p.Gln359del)
NM_015450.3(POT1):c.1078T>C (p.Tyr360His) rs1554420630
NM_015450.3(POT1):c.107A>G (p.Tyr36Cys) rs1057524691
NM_015450.3(POT1):c.1084A>G (p.Ile362Val)
NM_015450.3(POT1):c.1087C>T (p.Arg363Ter) rs756198077
NM_015450.3(POT1):c.1106A>G (p.Tyr369Cys)
NM_015450.3(POT1):c.1123T>A (p.Phe375Ile) rs1562981806
NM_015450.3(POT1):c.1147C>A (p.Pro383Thr) rs1243926615
NM_015450.3(POT1):c.1147C>T (p.Pro383Ser)
NM_015450.3(POT1):c.1147_1151del (p.Pro383fs) rs1554420583
NM_015450.3(POT1):c.114C>G (p.Ser38Arg) rs1554434730
NM_015450.3(POT1):c.1156C>A (p.His386Asn) rs1168740597
NM_015450.3(POT1):c.1161G>T (p.Leu387Phe)
NM_015450.3(POT1):c.1163+1G>A rs1562981766
NM_015450.3(POT1):c.1163+5G>A
NM_015450.3(POT1):c.1164-10A>G rs1554420179
NM_015450.3(POT1):c.1164-1G>A rs866612394
NM_015450.3(POT1):c.1168G>A (p.Glu390Lys)
NM_015450.3(POT1):c.1178A>G (p.His393Arg) rs746416077
NM_015450.3(POT1):c.1183G>A (p.Gly395Ser) rs757373061
NM_015450.3(POT1):c.1185C>T (p.Gly395=) rs538385307
NM_015450.3(POT1):c.1186G>A (p.Asp396Asn) rs148956533
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.1213G>A (p.Ala405Thr) rs753851042
NM_015450.3(POT1):c.1214C>T (p.Ala405Val) rs904242272
NM_015450.3(POT1):c.1229A>G (p.Asp410Gly) rs1562980939
NM_015450.3(POT1):c.122C>T (p.Thr41Ile) rs1563008415
NM_015450.3(POT1):c.124+1G>C rs1563008413
NM_015450.3(POT1):c.124+5G>T
NM_015450.3(POT1):c.1256A>G (p.Tyr419Cys)
NM_015450.3(POT1):c.1259A>T (p.Asp420Val) rs1562980906
NM_015450.3(POT1):c.125A>G (p.Asp42Gly) rs1562997283
NM_015450.3(POT1):c.126T>G (p.Asp42Glu) rs1554429221
NM_015450.3(POT1):c.1287A>C (p.Gln429His) rs777842421
NM_015450.3(POT1):c.1294C>T (p.Arg432Ter) rs758341603
NM_015450.3(POT1):c.1295G>A (p.Arg432Gln)
NM_015450.3(POT1):c.1303G>A (p.Ala435Thr)
NM_015450.3(POT1):c.1315G>T (p.Val439Leu)
NM_015450.3(POT1):c.131G>A (p.Cys44Tyr) rs1260027166
NM_015450.3(POT1):c.1322A>C (p.Asn441Thr)
NM_015450.3(POT1):c.1322A>G (p.Asn441Ser) rs1477300313
NM_015450.3(POT1):c.1346A>G (p.Asn449Ser)
NM_015450.3(POT1):c.1363A>G (p.Ile455Val) rs776965979
NM_015450.3(POT1):c.1369+6A>C
NM_015450.3(POT1):c.1381A>T (p.Ser461Cys) rs762019631
NM_015450.3(POT1):c.1400C>T (p.Ser467Leu) rs1410842025
NM_015450.3(POT1):c.1411A>C (p.Asn471His)
NM_015450.3(POT1):c.1416T>A (p.Ser472Arg)
NM_015450.3(POT1):c.1416T>G (p.Ser472Arg) rs146643991
NM_015450.3(POT1):c.1441G>A (p.Glu481Lys) rs200494750
NM_015450.3(POT1):c.1442A>G (p.Glu481Gly)
NM_015450.3(POT1):c.145A>G (p.Ile49Val)
NM_015450.3(POT1):c.1474_1491del (p.Phe492_Thr497del) rs1554418234
NM_015450.3(POT1):c.147del (p.Ile49fs) rs1064794328
NM_015450.3(POT1):c.1481T>A (p.Ile494Lys) rs774858551
NM_015450.3(POT1):c.1482A>G (p.Ile494Met)
NM_015450.3(POT1):c.1492A>G (p.Ile498Val)
NM_015450.3(POT1):c.1505+3A>G rs1227070716
NM_015450.3(POT1):c.1516dup (p.Cys506fs)
NM_015450.3(POT1):c.1518T>A (p.Cys506Ter) rs1554416461
NM_015450.3(POT1):c.151G>A (p.Asp51Asn) rs1562997249
NM_015450.3(POT1):c.1523G>T (p.Ser508Ile)
NM_015450.3(POT1):c.1534A>G (p.Ile512Val) rs1179111946
NM_015450.3(POT1):c.1536A>G (p.Ile512Met)
NM_015450.3(POT1):c.1546A>G (p.Asn516Asp)
NM_015450.3(POT1):c.1555G>A (p.Val519Ile) rs776873207
NM_015450.3(POT1):c.1555G>T (p.Val519Phe)
NM_015450.3(POT1):c.1562A>G (p.Lys521Arg) rs1482392861
NM_015450.3(POT1):c.1565C>T (p.Thr522Ile)
NM_015450.3(POT1):c.1568C>G (p.Ser523Trp) rs139388603
NM_015450.3(POT1):c.1580C>T (p.Ser527Phe) rs1562974651
NM_015450.3(POT1):c.1585G>A (p.Val529Met)
NM_015450.3(POT1):c.1594+6C>T
NM_015450.3(POT1):c.1606G>A (p.Val536Ile) rs1174783791
NM_015450.3(POT1):c.1612C>G (p.Leu538Val)
NM_015450.3(POT1):c.161dup (p.Asn54fs) rs1554429205
NM_015450.3(POT1):c.1630A>G (p.Met544Val) rs762424988
NM_015450.3(POT1):c.1648_1683dup (p.Asp550_Asp561dup)
NM_015450.3(POT1):c.1658G>A (p.Gly553Glu)
NM_015450.3(POT1):c.1685C>T (p.Ser562Phe) rs1554415832
NM_015450.3(POT1):c.1686+4A>G rs907669138
NM_015450.3(POT1):c.1687-5T>G rs35062732
NM_015450.3(POT1):c.170T>C (p.Leu57Pro)
NM_015450.3(POT1):c.1729G>T (p.Asp577Tyr)
NM_015450.3(POT1):c.1742A>G (p.Lys581Arg) rs201023336
NM_015450.3(POT1):c.1756A>G (p.Ile586Val) rs1554415137
NM_015450.3(POT1):c.1763_1764AT[1] (p.Met589fs) rs771968149
NM_015450.3(POT1):c.1766T>C (p.Met589Thr) rs1375637075
NM_015450.3(POT1):c.1781_1782del (p.Gly594fs)
NM_015450.3(POT1):c.1792+1G>T rs1562972354
NM_015450.3(POT1):c.1802C>T (p.Pro601Leu) rs779050803
NM_015450.3(POT1):c.1810G>A (p.Glu604Lys) rs753762757
NM_015450.3(POT1):c.1814G>C (p.Cys605Ser) rs766020213
NM_015450.3(POT1):c.1819A>G (p.Ile607Val) rs1554414706
NM_015450.3(POT1):c.1829A>G (p.Tyr610Cys) rs1363813360
NM_015450.3(POT1):c.1832A>G (p.Asn611Ser) rs376707680
NM_015450.3(POT1):c.1834G>A (p.Val612Ile) rs1554414690
NM_015450.3(POT1):c.1841A>G (p.Asn614Ser) rs202024401
NM_015450.3(POT1):c.1851T>A (p.Asp617Glu)
NM_015450.3(POT1):c.1851_1852del (p.Asp617fs) rs758673417
NM_015450.3(POT1):c.1858_1860del (p.Ile620del) rs1193436506
NM_015450.3(POT1):c.1864T>C (p.Tyr622His) rs188854542
NM_015450.3(POT1):c.186T>C (p.Phe62=)
NM_015450.3(POT1):c.1870A>G (p.Ile624Val) rs1410012081
NM_015450.3(POT1):c.1871T>C (p.Ile624Thr) rs1554414645
NM_015450.3(POT1):c.1880C>A (p.Thr627Asn)
NM_015450.3(POT1):c.1882A>G (p.Thr628Ala) rs1260196051
NM_015450.3(POT1):c.188G>C (p.Ser63Thr)
NM_015450.3(POT1):c.197A>G (p.Tyr66Cys) rs776085350
NM_015450.3(POT1):c.19A>G (p.Thr7Ala)
NM_015450.3(POT1):c.1A>G (p.Met1Val)
NM_015450.3(POT1):c.205C>T (p.Leu69Phe) rs905571705
NM_015450.3(POT1):c.211A>G (p.Ile71Val) rs776844142
NM_015450.3(POT1):c.224A>G (p.Asn75Ser) rs1044174795
NM_015450.3(POT1):c.233T>C (p.Ile78Thr) rs947005337
NM_015450.3(POT1):c.238C>T (p.Arg80Cys) rs778692211
NM_015450.3(POT1):c.239G>A (p.Arg80His) rs868664738
NM_015450.3(POT1):c.255+1G>A
NM_015450.3(POT1):c.255G>A (p.Lys85=) rs747851551
NM_015450.3(POT1):c.266A>G (p.Tyr89Cys) rs587777472
NM_015450.3(POT1):c.268A>G (p.Lys90Glu) rs1554427012
NM_015450.3(POT1):c.272A>C (p.Lys91Thr) rs1283293522
NM_015450.3(POT1):c.283G>T (p.Gly95Cys) rs797045168
NM_015450.3(POT1):c.286A>G (p.Ile96Val) rs778571153
NM_015450.3(POT1):c.314C>T (p.Thr105Met) rs1554426994
NM_015450.3(POT1):c.323G>C (p.Gly108Ala) rs1290433563
NM_015450.3(POT1):c.331G>A (p.Gly111Arg) rs1554426987
NM_015450.3(POT1):c.338C>T (p.Pro113Leu) rs1554426986
NM_015450.3(POT1):c.343A>C (p.Ile115Leu) rs755644182
NM_015450.3(POT1):c.347C>T (p.Pro116Leu) rs1554426966
NM_015450.3(POT1):c.349C>T (p.Arg117Cys) rs780936436
NM_015450.3(POT1):c.350G>A (p.Arg117His)
NM_015450.3(POT1):c.365A>G (p.Tyr122Cys) rs1562993384
NM_015450.3(POT1):c.373_374del (p.Phe125fs)
NM_015450.3(POT1):c.409C>T (p.Arg137Cys)
NM_015450.3(POT1):c.410G>A (p.Arg137His) rs587777475
NM_015450.3(POT1):c.418G>A (p.Ala140Thr) rs1554426928
NM_015450.3(POT1):c.425C>T (p.Thr142Ile) rs1554426922
NM_015450.3(POT1):c.449T>C (p.Leu150Ser)
NM_015450.3(POT1):c.463G>A (p.Asp155Asn) rs1562993312
NM_015450.3(POT1):c.464A>G (p.Asp155Gly)
NM_015450.3(POT1):c.475A>G (p.Met159Val) rs1449504013
NM_015450.3(POT1):c.485T>A (p.Phe162Tyr)
NM_015450.3(POT1):c.512A>G (p.Lys171Arg) rs1284442583
NM_015450.3(POT1):c.526G>A (p.Gly176Arg) rs774576173
NM_015450.3(POT1):c.533C>T (p.Ser178Leu)
NM_015450.3(POT1):c.546G>A (p.Lys182=) rs1280084769
NM_015450.3(POT1):c.547-3C>A rs770890978
NM_015450.3(POT1):c.554_555delinsCA (p.Asp185Ala)
NM_015450.3(POT1):c.557G>A (p.Gly186Asp)
NM_015450.3(POT1):c.560C>G (p.Thr187Ser) rs1562990972
NM_015450.3(POT1):c.563G>C (p.Arg188Thr) rs1161774277
NM_015450.3(POT1):c.577T>C (p.Ser193Pro) rs752854457
NM_015450.3(POT1):c.592A>C (p.Ile198Leu) rs1554425771
NM_015450.3(POT1):c.598G>A (p.Asp200Asn)
NM_015450.3(POT1):c.598_606dup (p.Asp200_Val202dup) rs1554425767
NM_015450.3(POT1):c.608T>G (p.Leu203Arg) rs1562990940
NM_015450.3(POT1):c.617A>G (p.Asp206Gly) rs1562990934
NM_015450.3(POT1):c.623G>A (p.Ser208Asn) rs776459318
NM_015450.3(POT1):c.635G>A (p.Arg212Gln)
NM_015450.3(POT1):c.642A>G (p.Gln214=)
NM_015450.3(POT1):c.64A>G (p.Ile22Val) rs375440229
NM_015450.3(POT1):c.653T>C (p.Ile218Thr) rs376770473
NM_015450.3(POT1):c.670G>A (p.Asp224Asn) rs202187871
NM_015450.3(POT1):c.675C>A (p.Asn225Lys) rs1050055964
NM_015450.3(POT1):c.683A>G (p.His228Arg)
NM_015450.3(POT1):c.688G>A (p.Ala230Thr) rs1315178609
NM_015450.3(POT1):c.703G>A (p.Val235Ile) rs753638532
NM_015450.3(POT1):c.709A>C (p.Ser237Arg) rs1554424059
NM_015450.3(POT1):c.716T>G (p.Leu239Arg) rs1554424050
NM_015450.3(POT1):c.71A>G (p.Asn24Ser) rs372235657
NM_015450.3(POT1):c.73G>A (p.Val25Ile) rs375825837
NM_015450.3(POT1):c.747A>G (p.Gln249=) rs35361862
NM_015450.3(POT1):c.753G>C (p.Met251Ile) rs1172142052
NM_015450.3(POT1):c.755A>C (p.Asn252Thr)
NM_015450.3(POT1):c.763A>C (p.Asn255His) rs1260902476
NM_015450.3(POT1):c.768G>C (p.Gln256His)
NM_015450.3(POT1):c.773T>C (p.Met258Thr)
NM_015450.3(POT1):c.779G>A (p.Ser260Asn) rs1323715274
NM_015450.3(POT1):c.77A>G (p.Tyr26Cys) rs1197625483
NM_015450.3(POT1):c.797A>T (p.His266Leu)
NM_015450.3(POT1):c.798T>A (p.His266Gln) rs1554424006
NM_015450.3(POT1):c.814G>A (p.Gly272Ser)
NM_015450.3(POT1):c.817C>T (p.Arg273Trp) rs1554423983
NM_015450.3(POT1):c.818G>A (p.Arg273Gln) rs587777476
NM_015450.3(POT1):c.823A>G (p.Ile275Val)
NM_015450.3(POT1):c.839A>G (p.Glu280Gly) rs1562987653
NM_015450.3(POT1):c.870-7A>G rs372566252
NM_015450.3(POT1):c.870-9C>A
NM_015450.3(POT1):c.883G>C (p.Ala295Pro)
NM_015450.3(POT1):c.886A>G (p.Asn296Asp)
NM_015450.3(POT1):c.889T>G (p.Leu297Val) rs762044659
NM_015450.3(POT1):c.895G>A (p.Ala299Thr)
NM_015450.3(POT1):c.9+3A>G rs372320290
NM_015450.3(POT1):c.913G>A (p.Val305Ile) rs1444104997
NM_015450.3(POT1):c.916A>T (p.Ile306Phe) rs1415345156
NM_015450.3(POT1):c.925T>C (p.Ser309Pro)
NM_015450.3(POT1):c.938A>T (p.Asp313Val)
NM_015450.3(POT1):c.948A>G (p.Pro316=)
NM_015450.3(POT1):c.949A>G (p.Ser317Gly)
NM_015450.3(POT1):c.977T>C (p.Val326Ala) rs75932146
NM_015450.3(POT1):c.986G>A (p.Cys329Tyr) rs1472832603
NM_015450.3(POT1):c.991C>T (p.Gln331Ter)
Single allele

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