ClinVar Miner

List of variants in gene POT1

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Gene type:
ClinVar version:
Total variants: 267
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HGVS dbSNP
GRCh38/hg38 7q31.33(chr7:124967179-125033187)x1
NC_000007.14:g.(?_124823956)_(124859118_?)dup
NC_000007.14:g.(?_124852966)_(124853144_?)del
NC_000007.14:g.(?_124870905)_(124897179_?)del
NM_015450.2(POT1):c.*1507A>G rs537858943
NM_015450.2(POT1):c.-39-15_-39-12delCTTT rs199955944
NM_015450.2(POT1):c.10-1G>A
NM_015450.2(POT1):c.10-2A>C rs1554434788
NM_015450.2(POT1):c.1006+16A>G rs7794637
NM_015450.2(POT1):c.1006+9A>G rs757922302
NM_015450.2(POT1):c.1006+9_1006+10delAT rs764472102
NM_015450.2(POT1):c.1007-8C>T rs375482256
NM_015450.2(POT1):c.1013C>T (p.Thr338Ile)
NM_015450.2(POT1):c.1014A>T (p.Thr338=) rs1554420707
NM_015450.2(POT1):c.1021C>G (p.Gln341Glu)
NM_015450.2(POT1):c.1022A>G (p.Gln341Arg) rs554325914
NM_015450.2(POT1):c.1023G>A (p.Gln341=) rs147003926
NM_015450.2(POT1):c.1030G>A (p.Glu344Lys) rs951589289
NM_015450.2(POT1):c.1035G>A (p.Arg345=) rs1426607411
NM_015450.2(POT1):c.1050C>T (p.Ala350=) rs1199499328
NM_015450.2(POT1):c.1069C>G (p.Pro357Ala)
NM_015450.2(POT1):c.1071delT (p.Gln358Asnfs)
NM_015450.2(POT1):c.1071dup (p.Gln358Serfs) rs750470470
NM_015450.2(POT1):c.1077A>G (p.Gln359=) rs539321499
NM_015450.2(POT1):c.1078T>C (p.Tyr360His) rs1554420630
NM_015450.2(POT1):c.107A>G (p.Tyr36Cys) rs1057524691
NM_015450.2(POT1):c.1081C>T (p.Arg361Cys) rs372317646
NM_015450.2(POT1):c.1087C>T (p.Arg363Ter) rs756198077
NM_015450.2(POT1):c.1096T>C (p.Leu366=) rs1554420623
NM_015450.2(POT1):c.1097T>C (p.Leu366Ser) rs1554420620
NM_015450.2(POT1):c.1104A>G (p.Ser368=) rs1381478448
NM_015450.2(POT1):c.1106A>G (p.Tyr369Cys)
NM_015450.2(POT1):c.1123T>A (p.Phe375Ile)
NM_015450.2(POT1):c.1127A>G (p.Gln376Arg) rs143635917
NM_015450.2(POT1):c.1147C>A (p.Pro383Thr) rs1243926615
NM_015450.2(POT1):c.1147_1151delCCTAA (p.Pro383Metfs) rs1554420583
NM_015450.2(POT1):c.114C>G (p.Ser38Arg) rs1554434730
NM_015450.2(POT1):c.1156C>A (p.His386Asn) rs1168740597
NM_015450.2(POT1):c.1163+1G>A
NM_015450.2(POT1):c.1164-10A>G rs1554420179
NM_015450.2(POT1):c.1164-13C>T rs3815221
NM_015450.2(POT1):c.1164-1G>A rs866612394
NM_015450.2(POT1):c.1164-7A>C rs1554420177
NM_015450.2(POT1):c.1178A>G (p.His393Arg) rs746416077
NM_015450.2(POT1):c.1183G>A (p.Gly395Ser) rs757373061
NM_015450.2(POT1):c.1185C>T (p.Gly395=) rs538385307
NM_015450.2(POT1):c.1186G>A (p.Asp396Asn) rs148956533
NM_015450.2(POT1):c.1197A>G (p.Ile399Met) rs1554420158
NM_015450.2(POT1):c.1199T>C (p.Ile400Thr)
NM_015450.2(POT1):c.1211G>T (p.Gly404Val) rs35536751
NM_015450.2(POT1):c.1213G>A (p.Ala405Thr) rs753851042
NM_015450.2(POT1):c.1214C>T (p.Ala405Val) rs904242272
NM_015450.2(POT1):c.1227A>C (p.Pro409=) rs552835784
NM_015450.2(POT1):c.1228G>C (p.Asp410His) rs79314063
NM_015450.2(POT1):c.1229A>G (p.Asp410Gly)
NM_015450.2(POT1):c.122C>T (p.Thr41Ile)
NM_015450.2(POT1):c.1233C>T (p.Val411=) rs376273583
NM_015450.2(POT1):c.124+1G>C
NM_015450.2(POT1):c.124+5G>T
NM_015450.2(POT1):c.124+7A>G rs769945908
NM_015450.2(POT1):c.1251A>G (p.Ser417=) rs1554420121
NM_015450.2(POT1):c.1256A>G (p.Tyr419Cys)
NM_015450.2(POT1):c.1259A>T (p.Asp420Val)
NM_015450.2(POT1):c.125A>G (p.Asp42Gly)
NM_015450.2(POT1):c.1260T>C (p.Asp420=) rs933280158
NM_015450.2(POT1):c.126T>G (p.Asp42Glu) rs1554429221
NM_015450.2(POT1):c.1283A>G (p.Asn428Ser) rs747149913
NM_015450.2(POT1):c.1284T>C (p.Asn428=) rs141341950
NM_015450.2(POT1):c.1287A>C (p.Gln429His) rs777842421
NM_015450.2(POT1):c.1294C>T (p.Arg432Ter) rs758341603
NM_015450.2(POT1):c.1303G>A (p.Ala435Thr)
NM_015450.2(POT1):c.131G>A (p.Cys44Tyr) rs1260027166
NM_015450.2(POT1):c.1322A>G (p.Asn441Ser)
NM_015450.2(POT1):c.1338G>A (p.Pro446=) rs185651210
NM_015450.2(POT1):c.1348G>T (p.Glu450Ter) rs797045169
NM_015450.2(POT1):c.1359T>C (p.Leu453=) rs201869790
NM_015450.2(POT1):c.1360T>C (p.Leu454=) rs1554420018
NM_015450.2(POT1):c.1363A>G (p.Ile455Val) rs776965979
NM_015450.2(POT1):c.1369+10T>A rs773549874
NM_015450.2(POT1):c.1369+10T>C rs773549874
NM_015450.2(POT1):c.1370-8_1370-6delCTT rs1158098049
NM_015450.2(POT1):c.1381A>T (p.Ser461Cys) rs762019631
NM_015450.2(POT1):c.1400C>T (p.Ser467Leu)
NM_015450.2(POT1):c.1401G>A (p.Ser467=) rs775385144
NM_015450.2(POT1):c.1416T>G (p.Ser472Arg) rs146643991
NM_015450.2(POT1):c.1441G>A (p.Glu481Lys) rs200494750
NM_015450.2(POT1):c.1442A>G (p.Glu481Gly)
NM_015450.2(POT1):c.1474_1491delTTTCTTATACAAGGAACA (p.Phe492_Thr497del) rs1554418234
NM_015450.2(POT1):c.147delT (p.Ile49Metfs) rs1064794328
NM_015450.2(POT1):c.1481T>A (p.Ile494Lys) rs774858551
NM_015450.2(POT1):c.1481T>C (p.Ile494Thr) rs774858551
NM_015450.2(POT1):c.1482A>G (p.Ile494Met)
NM_015450.2(POT1):c.1492A>G (p.Ile498Val)
NM_015450.2(POT1):c.1505+3A>G
NM_015450.2(POT1):c.1518T>A (p.Cys506Ter) rs1554416461
NM_015450.2(POT1):c.151G>A (p.Asp51Asn)
NM_015450.2(POT1):c.1532C>T (p.Ser511Phe) rs1554416456
NM_015450.2(POT1):c.1534A>G (p.Ile512Val) rs1179111946
NM_015450.2(POT1):c.1536A>G (p.Ile512Met)
NM_015450.2(POT1):c.1551C>T (p.Ser517=) rs1447234373
NM_015450.2(POT1):c.1555G>A (p.Val519Ile) rs776873207
NM_015450.2(POT1):c.1559A>G (p.Asp520Gly) rs1370868219
NM_015450.2(POT1):c.1562A>G (p.Lys521Arg) rs1482392861
NM_015450.2(POT1):c.1566A>G (p.Thr522=) rs746796357
NM_015450.2(POT1):c.1568C>G (p.Ser523Trp) rs139388603
NM_015450.2(POT1):c.1569G>A (p.Ser523=) rs773176095
NM_015450.2(POT1):c.1580C>T (p.Ser527Phe)
NM_015450.2(POT1):c.1594G>C (p.Ala532Pro) rs537377921
NM_015450.2(POT1):c.1595-11dup rs762511146
NM_015450.2(POT1):c.1595-5A>G rs1554415905
NM_015450.2(POT1):c.1606G>A (p.Val536Ile) rs1174783791
NM_015450.2(POT1):c.1612C>G (p.Leu538Val)
NM_015450.2(POT1):c.1614C>T (p.Leu538=) rs969018798
NM_015450.2(POT1):c.161dup (p.Asn54Lysfs) rs1554429205
NM_015450.2(POT1):c.1630A>G (p.Met544Val) rs762424988
NM_015450.2(POT1):c.1662A>C (p.Val554=) rs1554415851
NM_015450.2(POT1):c.1685C>T (p.Ser562Phe) rs1554415832
NM_015450.2(POT1):c.1686+4A>G rs907669138
NM_015450.2(POT1):c.1687-1G>A rs587777473
NM_015450.2(POT1):c.1687-5T>A rs35062732
NM_015450.2(POT1):c.1687-5T>G rs35062732
NM_015450.2(POT1):c.1687-9A>G rs776461827
NM_015450.2(POT1):c.1707A>C (p.Pro569=) rs1218962425
NM_015450.2(POT1):c.1742A>G (p.Lys581Arg) rs201023336
NM_015450.2(POT1):c.1746T>C (p.Ser582=) rs1222395233
NM_015450.2(POT1):c.1756A>G (p.Ile586Val) rs1554415137
NM_015450.2(POT1):c.1765_1766delAT (p.Met589Valfs) rs771968149
NM_015450.2(POT1):c.1766T>C (p.Met589Thr)
NM_015450.2(POT1):c.1792+1G>T
NM_015450.2(POT1):c.1797A>G (p.Ala599=) rs752430203
NM_015450.2(POT1):c.1802C>T (p.Pro601Leu) rs779050803
NM_015450.2(POT1):c.1803G>A (p.Pro601=) rs754981355
NM_015450.2(POT1):c.1810G>A (p.Glu604Lys) rs753762757
NM_015450.2(POT1):c.1814G>C (p.Cys605Ser) rs766020213
NM_015450.2(POT1):c.1819A>G (p.Ile607Val) rs1554414706
NM_015450.2(POT1):c.1829A>G (p.Tyr610Cys)
NM_015450.2(POT1):c.1832A>G (p.Asn611Ser) rs376707680
NM_015450.2(POT1):c.1834G>A (p.Val612Ile) rs1554414690
NM_015450.2(POT1):c.183C>T (p.Leu61=) rs1455799309
NM_015450.2(POT1):c.1841A>G (p.Asn614Ser) rs202024401
NM_015450.2(POT1):c.1851_1852delTA (p.Asp617Glufs) rs758673417
NM_015450.2(POT1):c.1858_1860delATT (p.Ile620del)
NM_015450.2(POT1):c.1864T>C (p.Tyr622His) rs188854542
NM_015450.2(POT1):c.1869G>C (p.Gln623His) rs587777478
NM_015450.2(POT1):c.1870A>G (p.Ile624Val) rs1410012081
NM_015450.2(POT1):c.1871T>C (p.Ile624Thr) rs1554414645
NM_015450.2(POT1):c.1882A>G (p.Thr628Ala)
NM_015450.2(POT1):c.1884A>C (p.Thr628=) rs17147565
NM_015450.2(POT1):c.197A>G (p.Tyr66Cys) rs776085350
NM_015450.2(POT1):c.205C>T (p.Leu69Phe) rs905571705
NM_015450.2(POT1):c.211A>G (p.Ile71Val) rs776844142
NM_015450.2(POT1):c.224A>G (p.Asn75Ser) rs1044174795
NM_015450.2(POT1):c.233T>C (p.Ile78Thr) rs947005337
NM_015450.2(POT1):c.234T>A (p.Ile78=) rs1554429191
NM_015450.2(POT1):c.238C>T (p.Arg80Cys) rs778692211
NM_015450.2(POT1):c.239G>A (p.Arg80His) rs868664738
NM_015450.2(POT1):c.240C>T (p.Arg80=) rs1554429181
NM_015450.2(POT1):c.246C>T (p.His82=) rs1554429176
NM_015450.2(POT1):c.255G>A (p.Lys85=) rs747851551
NM_015450.2(POT1):c.256-10A>T rs760102890
NM_015450.2(POT1):c.264A>G (p.Val88=) rs1453961322
NM_015450.2(POT1):c.265T>C (p.Tyr89His) rs1131691746
NM_015450.2(POT1):c.266A>G (p.Tyr89Cys) rs587777472
NM_015450.2(POT1):c.268A>G (p.Lys90Glu) rs1554427012
NM_015450.2(POT1):c.272A>C (p.Lys91Thr) rs1283293522
NM_015450.2(POT1):c.280C>G (p.Gln94Glu) rs587777474
NM_015450.2(POT1):c.281_282delAG (p.Gln94Argfs) rs1397398300
NM_015450.2(POT1):c.283G>T (p.Gly95Cys) rs797045168
NM_015450.2(POT1):c.286A>G (p.Ile96Val) rs778571153
NM_015450.2(POT1):c.314C>T (p.Thr105Met) rs1554426994
NM_015450.2(POT1):c.315G>A (p.Thr105=) rs377547236
NM_015450.2(POT1):c.323G>C (p.Gly108Ala)
NM_015450.2(POT1):c.331G>A (p.Gly111Arg) rs1554426987
NM_015450.2(POT1):c.338C>T (p.Pro113Leu) rs1554426986
NM_015450.2(POT1):c.340A>G (p.Ile114Val) rs146552802
NM_015450.2(POT1):c.343A>C (p.Ile115Leu) rs755644182
NM_015450.2(POT1):c.347C>T (p.Pro116Leu) rs1554426966
NM_015450.2(POT1):c.349C>T (p.Arg117Cys) rs780936436
NM_015450.2(POT1):c.365A>G (p.Tyr122Cys)
NM_015450.2(POT1):c.388C>T (p.His130Tyr) rs1554426951
NM_015450.2(POT1):c.409C>T (p.Arg137Cys)
NM_015450.2(POT1):c.410G>A (p.Arg137His) rs587777475
NM_015450.2(POT1):c.418G>A (p.Ala140Thr) rs1554426928
NM_015450.2(POT1):c.425C>T (p.Thr142Ile) rs1554426922
NM_015450.2(POT1):c.437C>T (p.Pro146Leu) rs1554426915
NM_015450.2(POT1):c.43A>C (p.Asn15His) rs1554434768
NM_015450.2(POT1):c.447A>G (p.Thr149=) rs1469228736
NM_015450.2(POT1):c.448T>C (p.Leu150=) rs1232926005
NM_015450.2(POT1):c.463G>A (p.Asp155Asn)
NM_015450.2(POT1):c.475A>G (p.Met159Val) rs1449504013
NM_015450.2(POT1):c.495T>C (p.Thr165=) rs773138295
NM_015450.2(POT1):c.512A>G (p.Lys171Arg) rs1284442583
NM_015450.2(POT1):c.526G>A (p.Gly176Arg) rs774576173
NM_015450.2(POT1):c.546G>A (p.Lys182=)
NM_015450.2(POT1):c.547-3C>A rs770890978
NM_015450.2(POT1):c.560C>G (p.Thr187Ser)
NM_015450.2(POT1):c.563G>C (p.Arg188Thr) rs1161774277
NM_015450.2(POT1):c.576A>G (p.Pro192=) rs1450319624
NM_015450.2(POT1):c.577T>C (p.Ser193Pro) rs752854457
NM_015450.2(POT1):c.592A>C (p.Ile198Leu) rs1554425771
NM_015450.2(POT1):c.598G>A (p.Asp200Asn)
NM_015450.2(POT1):c.598_606dup (p.Val202_Leu203insAspLeuVal) rs1554425767
NM_015450.2(POT1):c.608T>G (p.Leu203Arg)
NM_015450.2(POT1):c.617A>G (p.Asp206Gly)
NM_015450.2(POT1):c.618T>C (p.Asp206=) rs1170213047
NM_015450.2(POT1):c.623G>A (p.Ser208Asn) rs776459318
NM_015450.2(POT1):c.630C>T (p.Ile210=) rs1188736928
NM_015450.2(POT1):c.636G>C (p.Arg212=) rs1554425745
NM_015450.2(POT1):c.639A>G (p.Leu213=) rs1309356160
NM_015450.2(POT1):c.64A>G (p.Ile22Val) rs375440229
NM_015450.2(POT1):c.653T>C (p.Ile218Thr) rs376770473
NM_015450.2(POT1):c.670G>A (p.Asp224Asn) rs202187871
NM_015450.2(POT1):c.675C>A (p.Asn225Lys) rs1050055964
NM_015450.2(POT1):c.688G>A (p.Ala230Thr) rs1315178609
NM_015450.2(POT1):c.697C>T (p.Leu233=) rs1554425714
NM_015450.2(POT1):c.702+8A>T rs6959712
NM_015450.2(POT1):c.702+8_702+9delATinsTG rs36069303
NM_015450.2(POT1):c.702+9T>G rs6977407
NM_015450.2(POT1):c.703G>A (p.Val235Ile) rs753638532
NM_015450.2(POT1):c.709A>C (p.Ser237Arg) rs1554424059
NM_015450.2(POT1):c.716T>G (p.Leu239Arg) rs1554424050
NM_015450.2(POT1):c.71A>G (p.Asn24Ser) rs372235657
NM_015450.2(POT1):c.73G>A (p.Val25Ile) rs375825837
NM_015450.2(POT1):c.747A>G (p.Gln249=) rs35361862
NM_015450.2(POT1):c.750A>C (p.Ser250=) rs1463033972
NM_015450.2(POT1):c.751A>G (p.Met251Val) rs148397357
NM_015450.2(POT1):c.753G>C (p.Met251Ile) rs1172142052
NM_015450.2(POT1):c.763A>C (p.Asn255His) rs1260902476
NM_015450.2(POT1):c.768G>C (p.Gln256His)
NM_015450.2(POT1):c.771A>T (p.Thr257=) rs762679439
NM_015450.2(POT1):c.779G>A (p.Ser260Asn) rs1323715274
NM_015450.2(POT1):c.77A>G (p.Tyr26Cys) rs1197625483
NM_015450.2(POT1):c.798T>A (p.His266Gln) rs1554424006
NM_015450.2(POT1):c.799G>A (p.Gly267Arg) rs1131691987
NM_015450.2(POT1):c.801A>G (p.Gly267=) rs1554423995
NM_015450.2(POT1):c.809G>A (p.Ser270Asn) rs587777477
NM_015450.2(POT1):c.813C>T (p.Tyr271=) rs61756407
NM_015450.2(POT1):c.817C>T (p.Arg273Trp) rs1554423983
NM_015450.2(POT1):c.818G>A (p.Arg273Gln) rs587777476
NM_015450.2(POT1):c.818G>T (p.Arg273Leu) rs587777476
NM_015450.2(POT1):c.828G>A (p.Arg276=) rs76496261
NM_015450.2(POT1):c.839A>G (p.Glu280Gly)
NM_015450.2(POT1):c.841A>G (p.Ser281Gly) rs780098976
NM_015450.2(POT1):c.846C>T (p.Asn282=) rs142704514
NM_015450.2(POT1):c.870-3T>C rs1291756890
NM_015450.2(POT1):c.870-7A>G rs372566252
NM_015450.2(POT1):c.879A>G (p.Glu293=) rs759178052
NM_015450.2(POT1):c.87G>A (p.Val29=) rs1481759760
NM_015450.2(POT1):c.889T>G (p.Leu297Val) rs762044659
NM_015450.2(POT1):c.9+10T>C rs369023903
NM_015450.2(POT1):c.9+3A>G rs372320290
NM_015450.2(POT1):c.9+4_9+6delAGA
NM_015450.2(POT1):c.9+6A>G rs750242979
NM_015450.2(POT1):c.903G>T (p.Gln301His) rs116916706
NM_015450.2(POT1):c.913G>A (p.Val305Ile) rs1444104997
NM_015450.2(POT1):c.916A>T (p.Ile306Phe) rs1415345156
NM_015450.2(POT1):c.924A>G (p.Gln308=) rs34398311
NM_015450.2(POT1):c.942C>T (p.Ser314=) rs1554423491
NM_015450.2(POT1):c.949A>C (p.Ser317Arg) rs1554423487
NM_015450.2(POT1):c.966A>G (p.Ser322=) rs1350554685
NM_015450.2(POT1):c.972C>T (p.Tyr324=) rs758749502
NM_015450.2(POT1):c.973G>A (p.Glu325Lys) rs1554421987
NM_015450.2(POT1):c.977T>C (p.Val326Ala) rs75932146
NM_015450.2(POT1):c.986G>A (p.Cys329Tyr) rs1472832603
NM_015450.2(POT1):c.994C>T (p.Leu332=) rs138223484
NM_015450.2(POT1):c.996A>G (p.Leu332=) rs1224859801
NM_015450.3(POT1):c.125-2A>G

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