ClinVar Miner

List of variants in gene POT1 reported as uncertain significance by GeneDx

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Gene type:
ClinVar version:
Total variants: 117
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HGVS dbSNP gnomAD frequency
NM_015450.3(POT1):c.1127A>G (p.Gln376Arg) rs143635917 0.00042
NM_015450.3(POT1):c.64A>G (p.Ile22Val) rs375440229 0.00019
NM_015450.3(POT1):c.670G>A (p.Asp224Asn) rs202187871 0.00012
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.1178A>G (p.His393Arg) rs746416077 0.00004
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.1214C>T (p.Ala405Val) rs904242272 0.00003
NM_015450.3(POT1):c.1441G>A (p.Glu481Lys) rs200494750 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.977T>C (p.Val326Ala) rs75932146 0.00003
NM_015450.3(POT1):c.1337C>T (p.Pro446Leu) rs761176134 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.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.238C>T (p.Arg80Cys) rs778692211 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
NM_015450.3(POT1):c.1003A>G (p.Thr335Ala)
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.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.1257T>C (p.Tyr419=) rs1584757255
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.1372G>A (p.Gly458Ser) rs1794876267
NM_015450.3(POT1):c.1381A>C (p.Ser461Arg) rs762019631
NM_015450.3(POT1):c.1494A>G (p.Ile498Met) rs775892143
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.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.265T>C (p.Tyr89His) rs1131691746
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.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.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+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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