ClinVar Miner

List of variants in gene POT1 studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 255
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_015450.3(POT1):c.950-258C>T rs10268372 0.73476
NM_015450.3(POT1):c.950-257T>C rs10235657 0.73468
NM_015450.3(POT1):c.-40+30C>T rs10229152 0.62847
NM_015450.3(POT1):c.-226-155A>G rs2219954 0.62238
NM_015450.3(POT1):c.10-282G>A rs7357296 0.60264
NM_015450.3(POT1):c.-153-162T>C rs12537161 0.60235
NM_015450.3(POT1):c.547-236G>C rs4422720 0.60182
NM_015450.3(POT1):c.546+215T>C rs6961292 0.60133
NM_015450.3(POT1):c.1506-191C>T rs35184624 0.39803
NM_015450.3(POT1):c.1594+41T>A rs10263573 0.39783
NM_015450.3(POT1):c.1792+209T>A rs2301930 0.39761
NM_015450.3(POT1):c.1687-98T>G rs10250202 0.39759
NM_015450.3(POT1):c.1164-188A>T rs4728010 0.39621
NM_015450.3(POT1):c.1164-171A>T rs4731221 0.37663
NM_015450.3(POT1):c.-153-187G>A rs33964002 0.31863
NM_015450.3(POT1):c.870-33A>G rs7784168 0.31710
NM_015450.3(POT1):c.546+208G>A rs4397336 0.29056
NM_015450.3(POT1):c.1007-205A>G rs7801661 0.21660
NM_015450.3(POT1):c.1595-111A>G rs10244817 0.21613
NM_015450.3(POT1):c.547-314T>G rs28638102 0.21491
NM_015450.3(POT1):c.702+304G>C rs10233385 0.21472
NM_015450.3(POT1):c.547-222C>A rs67084428 0.21459
NM_015450.3(POT1):c.-39-210T>G rs67585224 0.19931
NM_015450.3(POT1):c.869+263T>C rs66513837 0.19833
NM_015450.3(POT1):c.-227+159T>C rs12706628 0.13478
NM_015450.3(POT1):c.-40+162G>T rs74429678 0.04770
NM_015450.3(POT1):c.256-299A>G rs59045238 0.04633
NM_015450.3(POT1):c.1164-216G>C rs68016764 0.04561
NM_015450.3(POT1):c.1793-303A>G rs929365 0.03464
NM_015450.3(POT1):c.256-126T>A rs77854550 0.02725
NM_015450.3(POT1):c.1686+215A>G rs80348760 0.01908
NM_015450.3(POT1):c.9+179A>G rs115367394 0.01847
NM_015450.3(POT1):c.1595-254A>G rs114685329 0.01845
NM_015450.3(POT1):c.546+292A>G rs74440803 0.01843
NM_015450.3(POT1):c.1506-80_1506-79del rs34589900 0.01547
NM_015450.3(POT1):c.10-316T>A rs73223571 0.01480
NM_015450.3(POT1):c.1792+50A>G rs146966778 0.01095
NM_015450.3(POT1):c.703-262A>G rs73719059 0.00916
NM_015450.3(POT1):c.-412+193T>C rs189773582 0.00759
NM_015450.3(POT1):c.1370-150A>G rs141885512 0.00701
NM_015450.3(POT1):c.1687-5T>A rs35062732 0.00699
NM_015450.3(POT1):c.256-64G>A rs115093434 0.00590
NM_015450.3(POT1):c.255+218A>G rs140769533 0.00553
NM_015450.3(POT1):c.-304C>A rs139838633 0.00547
NM_015450.3(POT1):c.703-233G>A rs150979715 0.00542
NM_015450.3(POT1):c.949+171dup rs34904451 0.00541
NM_015450.3(POT1):c.-321A>T rs118121031 0.00535
NM_015450.3(POT1):c.1595-167A>G rs35361757 0.00500
NM_015450.3(POT1):c.10-117T>C rs111260628 0.00441
NM_015450.3(POT1):c.*89A>G rs184241887 0.00338
NM_015450.3(POT1):c.-39-168T>C rs191459325 0.00323
NM_015450.3(POT1):c.124+175T>C rs139075852 0.00319
NM_015450.3(POT1):c.903G>T (p.Gln301His) rs116916706 0.00304
NM_015450.3(POT1):c.751A>G (p.Met251Val) rs148397357 0.00171
NM_015450.3(POT1):c.828G>A (p.Arg276=) rs76496261 0.00106
NM_015450.3(POT1):c.1022A>G (p.Gln341Arg) rs554325914 0.00098
NM_015450.3(POT1):c.1127A>G (p.Gln376Arg) rs143635917 0.00042
NM_015450.3(POT1):c.846C>T (p.Asn282=) rs142704514 0.00035
NM_015450.3(POT1):c.340A>G (p.Ile114Val) rs146552802 0.00027
NM_015450.3(POT1):c.64A>G (p.Ile22Val) rs375440229 0.00019
NM_015450.3(POT1):c.1023G>A (p.Gln341=) rs147003926 0.00016
NM_015450.3(POT1):c.670G>A (p.Asp224Asn) rs202187871 0.00012
NM_015450.3(POT1):c.813C>T (p.Tyr271=) rs61756407 0.00011
NM_015450.3(POT1):c.9+6A>G rs750242979 0.00009
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.1841A>G (p.Asn614Ser) rs202024401 0.00006
NM_015450.3(POT1):c.526G>A (p.Gly176Arg) rs774576173 0.00005
NM_015450.3(POT1):c.1087C>T (p.Arg363Ter) rs756198077 0.00004
NM_015450.3(POT1):c.1178A>G (p.His393Arg) rs746416077 0.00004
NM_015450.3(POT1):c.1186G>A (p.Asp396Asn) rs148956533 0.00004
NM_015450.3(POT1):c.1283A>G (p.Asn428Ser) rs747149913 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.1793-25G>A rs575804706 0.00004
NM_015450.3(POT1):c.1803G>A (p.Pro601=) rs754981355 0.00004
NM_015450.3(POT1):c.703G>A (p.Val235Ile) rs753638532 0.00004
NM_015450.3(POT1):c.1071dup (p.Gln358fs) rs750470470 0.00003
NM_015450.3(POT1):c.1214C>T (p.Ala405Val) rs904242272 0.00003
NM_015450.3(POT1):c.1441G>A (p.Glu481Lys) rs200494750 0.00003
NM_015450.3(POT1):c.1797A>G (p.Ala599=) rs752430203 0.00003
NM_015450.3(POT1):c.1810G>A (p.Glu604Lys) rs753762757 0.00003
NM_015450.3(POT1):c.525C>T (p.Asp175=) rs761930094 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.972C>T (p.Tyr324=) rs758749502 0.00003
NM_015450.3(POT1):c.977T>C (p.Val326Ala) rs75932146 0.00003
NM_015450.3(POT1):c.1164-1G>A rs866612394 0.00002
NM_015450.3(POT1):c.1183G>A (p.Gly395Ser) rs757373061 0.00002
NM_015450.3(POT1):c.1337C>T (p.Pro446Leu) rs761176134 0.00002
NM_015450.3(POT1):c.1569G>A (p.Ser523=) rs773176095 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.449T>C (p.Leu150Ser) rs918544320 0.00002
NM_015450.3(POT1):c.623G>A (p.Ser208Asn) rs776459318 0.00002
NM_015450.3(POT1):c.747A>G (p.Gln249=) rs35361862 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.1084A>G (p.Ile362Val) rs1460433561 0.00001
NM_015450.3(POT1):c.1120C>T (p.Leu374=) rs148091643 0.00001
NM_015450.3(POT1):c.1185C>T (p.Gly395=) rs538385307 0.00001
NM_015450.3(POT1):c.1255T>C (p.Tyr419His) rs773811344 0.00001
NM_015450.3(POT1):c.1363A>G (p.Ile455Val) rs776965979 0.00001
NM_015450.3(POT1):c.1394A>G (p.Lys465Arg) rs369417655 0.00001
NM_015450.3(POT1):c.145A>G (p.Ile49Val) rs1345686360 0.00001
NM_015450.3(POT1):c.1505+3A>G rs1227070716 0.00001
NM_015450.3(POT1):c.1523G>A (p.Ser508Asn) rs144522387 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.1565C>T (p.Thr522Ile) rs754745002 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.1702A>G (p.Ile568Val) rs150719673 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.224A>G (p.Asn75Ser) rs1044174795 0.00001
NM_015450.3(POT1):c.22A>G (p.Asn8Asp) rs1454480268 0.00001
NM_015450.3(POT1):c.233T>C (p.Ile78Thr) rs947005337 0.00001
NM_015450.3(POT1):c.238C>T (p.Arg80Cys) rs778692211 0.00001
NM_015450.3(POT1):c.264A>G (p.Val88=) rs1453961322 0.00001
NM_015450.3(POT1):c.306A>G (p.Ala102=) rs1182980873 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.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.512A>G (p.Lys171Arg) rs1284442583 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.725A>G (p.Tyr242Cys) rs1188122279 0.00001
NM_015450.3(POT1):c.73G>A (p.Val25Ile) rs375825837 0.00001
NM_015450.3(POT1):c.853G>A (p.Val285Met) rs1795350062 0.00001
NM_015450.3(POT1):c.870-13C>G rs374223039 0.00001
NM_015450.3(POT1):c.899A>G (p.Asn300Ser) rs573222502 0.00001
NM_015450.3(POT1):c.916A>G (p.Ile306Val) rs1415345156 0.00001
NM_015450.3(POT1):c.*998G>A
NM_015450.3(POT1):c.-153-9del rs57468586
NM_015450.3(POT1):c.-154+1656C>T
NM_015450.3(POT1):c.-227+36C>G rs531956807
NM_015450.3(POT1):c.-39-15_-39-12del rs199955944
NM_015450.3(POT1):c.-39-182del rs11329934
NM_015450.3(POT1):c.-40+149dup rs201066236
NM_015450.3(POT1):c.10-2A>C rs1554434788
NM_015450.3(POT1):c.1003A>G (p.Thr335Ala)
NM_015450.3(POT1):c.1007-255T>A rs4731223
NM_015450.3(POT1):c.1007-319G>A rs141468844
NM_015450.3(POT1):c.1007-8C>T rs375482256
NM_015450.3(POT1):c.1009C>T (p.Leu337Phe) rs1795066742
NM_015450.3(POT1):c.100C>T (p.Pro34Ser)
NM_015450.3(POT1):c.1023G>T (p.Gln341His)
NM_015450.3(POT1):c.1051A>G (p.Ile351Val) rs2116468129
NM_015450.3(POT1):c.1065dup (p.Ala356fs) rs1225878757
NM_015450.3(POT1):c.107A>G (p.Tyr36Cys) rs1057524691
NM_015450.3(POT1):c.1091C>G (p.Ala364Gly)
NM_015450.3(POT1):c.1132G>C (p.Val378Leu) rs1245805221
NM_015450.3(POT1):c.1138C>T (p.Leu380Phe)
NM_015450.3(POT1):c.113G>T (p.Ser38Ile) rs1796390486
NM_015450.3(POT1):c.1156C>A (p.His386Asn) rs1168740597
NM_015450.3(POT1):c.115A>G (p.Lys39Glu)
NM_015450.3(POT1):c.1163+1G>A rs1562981766
NM_015450.3(POT1):c.1199T>C (p.Ile400Thr) rs1562980983
NM_015450.3(POT1):c.1205A>G (p.Gln402Arg) rs1646830386
NM_015450.3(POT1):c.1211G>T (p.Gly404Val) rs35536751
NM_015450.3(POT1):c.124+1G>C rs1563008413
NM_015450.3(POT1):c.125-277G>A rs145897106
NM_015450.3(POT1):c.125-2A>G rs1562997292
NM_015450.3(POT1):c.1257T>C (p.Tyr419=) rs1584757255
NM_015450.3(POT1):c.1262C>G (p.Ser421Ter)
NM_015450.3(POT1):c.1267A>G (p.Ile423Val)
NM_015450.3(POT1):c.1303G>A (p.Ala435Thr) rs567021227
NM_015450.3(POT1):c.1322A>C (p.Asn441Thr) rs1477300313
NM_015450.3(POT1):c.1327G>T (p.Gly443Cys)
NM_015450.3(POT1):c.133T>C (p.Ser45Pro) rs774755861
NM_015450.3(POT1):c.1369+158A>G rs3213667
NM_015450.3(POT1):c.1369+6A>G rs1562980753
NM_015450.3(POT1):c.1369G>T (p.Gly457Ter) rs2116460981
NM_015450.3(POT1):c.1372G>A (p.Gly458Ser) rs1794876267
NM_015450.3(POT1):c.1381A>C (p.Ser461Arg) rs762019631
NM_015450.3(POT1):c.1400C>A (p.Ser467Ter) rs1410842025
NM_015450.3(POT1):c.1407G>A (p.Lys469=) rs1584753348
NM_015450.3(POT1):c.1434T>C (p.Ser478=) rs1562977862
NM_015450.3(POT1):c.147del (p.Ile49fs) rs1064794328
NM_015450.3(POT1):c.1494A>G (p.Ile498Met) rs775892143
NM_015450.3(POT1):c.1502A>G (p.Tyr501Cys) rs1226322093
NM_015450.3(POT1):c.1505+7TGTTT[5] rs66826272
NM_015450.3(POT1):c.1505+7TGTTT[7] rs66826272
NM_015450.3(POT1):c.1505+8G>A rs1364537881
NM_015450.3(POT1):c.1506-16_1506-13del rs781616553
NM_015450.3(POT1):c.150G>A (p.Val50=) rs1795855228
NM_015450.3(POT1):c.1515G>C (p.Gln505His)
NM_015450.3(POT1):c.1536A>C (p.Ile512=) rs765347563
NM_015450.3(POT1):c.1555G>T (p.Val519Phe) rs776873207
NM_015450.3(POT1):c.1572G>A (p.Trp524Ter) rs1794703569
NM_015450.3(POT1):c.1611C>G (p.Pro537=)
NM_015450.3(POT1):c.161dup (p.Asn54fs) rs1554429205
NM_015450.3(POT1):c.1632G>A (p.Met544Ile) rs2116414980
NM_015450.3(POT1):c.1656A>C (p.Thr552=) rs2116414814
NM_015450.3(POT1):c.1686+4A>G rs907669138
NM_015450.3(POT1):c.1711T>G (p.Ser571Ala) rs1794604371
NM_015450.3(POT1):c.1733A>G (p.Asp578Gly) rs1794603429
NM_015450.3(POT1):c.1746T>G (p.Ser582Arg) rs1222395233
NM_015450.3(POT1):c.1765A>G (p.Met589Val) rs1794602270
NM_015450.3(POT1):c.176G>A (p.Cys59Tyr) rs763187597
NM_015450.3(POT1):c.1793A>G (p.Asp598Gly) rs1794572863
NM_015450.3(POT1):c.1805G>T (p.Trp602Leu) rs996577534
NM_015450.3(POT1):c.1851_1852del (p.Asp617fs) rs758673417
NM_015450.3(POT1):c.21A>T (p.Thr7=) rs1584792046
NM_015450.3(POT1):c.255G>C (p.Lys85Asn) rs747851551
NM_015450.3(POT1):c.265T>C (p.Tyr89His) rs1131691746
NM_015450.3(POT1):c.281_282del (p.Gln94fs) rs1397398300
NM_015450.3(POT1):c.314C>T (p.Thr105Met) rs1554426994
NM_015450.3(POT1):c.323G>A (p.Gly108Glu) rs1290433563
NM_015450.3(POT1):c.349C>T (p.Arg117Cys) rs780936436
NM_015450.3(POT1):c.373T>C (p.Phe125Leu) rs2116542157
NM_015450.3(POT1):c.376A>G (p.Thr126Ala)
NM_015450.3(POT1):c.389A>G (p.His130Arg)
NM_015450.3(POT1):c.514G>A (p.Ala172Thr)
NM_015450.3(POT1):c.533C>T (p.Ser178Leu) rs1584772907
NM_015450.3(POT1):c.547-10C>T rs1413025095
NM_015450.3(POT1):c.548T>G (p.Val183Gly) rs200464979
NM_015450.3(POT1):c.550T>C (p.Trp184Arg) rs2116526752
NM_015450.3(POT1):c.568C>G (p.Pro190Ala) rs1271909948
NM_015450.3(POT1):c.56G>A (p.Gly19Asp)
NM_015450.3(POT1):c.592A>C (p.Ile198Leu) rs1554425771
NM_015450.3(POT1):c.597A>C (p.Gln199His)
NM_015450.3(POT1):c.598G>A (p.Asp200Asn) rs764943552
NM_015450.3(POT1):c.605T>C (p.Val202Ala)
NM_015450.3(POT1):c.62C>T (p.Thr21Ile)
NM_015450.3(POT1):c.652A>C (p.Ile218Leu) rs1795515981
NM_015450.3(POT1):c.675C>A (p.Asn225Lys) rs1050055964
NM_015450.3(POT1):c.693A>T (p.Arg231Ser) rs1795514618
NM_015450.3(POT1):c.707del (p.Gly236fs) rs2116505374
NM_015450.3(POT1):c.709del (p.Ser237fs) rs2116505365
NM_015450.3(POT1):c.723C>T (p.Ile241=) rs371599223
NM_015450.3(POT1):c.753G>C (p.Met251Ile) rs1172142052
NM_015450.3(POT1):c.764A>C (p.Asn255Thr) rs2116504989
NM_015450.3(POT1):c.773T>C (p.Met258Thr) rs1584765693
NM_015450.3(POT1):c.799G>A (p.Gly267Arg) rs1131691987
NM_015450.3(POT1):c.802G>A (p.Gly268Ser)
NM_015450.3(POT1):c.803G>A (p.Gly268Asp) rs2116504751
NM_015450.3(POT1):c.818G>A (p.Arg273Gln) rs587777476
NM_015450.3(POT1):c.823A>G (p.Ile275Val) rs1584765612
NM_015450.3(POT1):c.847T>G (p.Ser283Ala) rs1584765580
NM_015450.3(POT1):c.87G>C (p.Val29=) rs1481759760
NM_015450.3(POT1):c.9+1G>C
NM_015450.3(POT1):c.9+306G>T rs10224463
NM_015450.3(POT1):c.9+3A>G rs372320290
NM_015450.3(POT1):c.9+4_9+6del rs1442340607
NM_015450.3(POT1):c.901C>A (p.Gln301Lys) rs763135130
NM_015450.3(POT1):c.950-10C>T rs932001885
NM_015450.3(POT1):c.976G>A (p.Val326Ile) rs1407472208
NM_015450.3(POT1):c.982A>G (p.Arg328Gly) rs1795184644
NM_015450.3(POT1):c.986G>A (p.Cys329Tyr) rs1472832603
NM_015450.3(POT1):c.992A>G (p.Gln331Arg) rs1795184096

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.