ClinVar Miner

List of variants in gene POT1 reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 226
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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.1006+16A>G rs7794637 0.70871
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.702+9T>G rs6977407 0.60082
NM_015450.3(POT1):c.702+8A>T rs6959712 0.60081
NM_015450.3(POT1):c.1506-191C>T rs35184624 0.39803
NM_015450.3(POT1):c.1164-13C>T rs3815221 0.39790
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.1884A>C (p.Thr628=) rs17147565 0.03412
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.924A>G (p.Gln308=) rs34398311 0.00206
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.1228G>C (p.Asp410His) rs79314063 0.00022
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.771A>T (p.Thr257=) rs762679439 0.00010
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.1401G>A (p.Ser467=) rs775385144 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.879A>G (p.Glu293=) rs759178052 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.71A>G (p.Asn24Ser) rs372235657 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.1337C>T (p.Pro446Leu) rs761176134 0.00002
NM_015450.3(POT1):c.1569G>A (p.Ser523=) rs773176095 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.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.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.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.725A>G (p.Tyr242Cys) rs1188122279 0.00001
NM_015450.3(POT1):c.73G>A (p.Val25Ile) rs375825837 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
GRCh38/hg38 7q31.33(chr7:124967179-125033187)x1
NM_015450.3(POT1):c.-153-9del rs57468586
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.107A>G (p.Tyr36Cys) rs1057524691
NM_015450.3(POT1):c.1091C>G (p.Ala364Gly)
NM_015450.3(POT1):c.1096T>C (p.Leu366=) rs1554420623
NM_015450.3(POT1):c.1132G>C (p.Val378Leu) rs1245805221
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.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.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.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.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.147del (p.Ile49fs) rs1064794328
NM_015450.3(POT1):c.1494A>G (p.Ile498Met) rs775892143
NM_015450.3(POT1):c.1505+7TGTTT[5] rs66826272
NM_015450.3(POT1):c.1505+7TGTTT[7] rs66826272
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.1555G>T (p.Val519Phe) rs776873207
NM_015450.3(POT1):c.1595-11dup rs762511146
NM_015450.3(POT1):c.1632G>A (p.Met544Ile) rs2116414980
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.176G>A (p.Cys59Tyr) rs763187597
NM_015450.3(POT1):c.1793A>G (p.Asp598Gly) rs1794572863
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.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.514G>A (p.Ala172Thr)
NM_015450.3(POT1):c.533C>T (p.Ser178Leu) rs1584772907
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.598G>A (p.Asp200Asn) rs764943552
NM_015450.3(POT1):c.62C>T (p.Thr21Ile)
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.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.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.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

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