List of variants in gene POT1 reported as pathogenic by Invitae

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 106

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HGVS	dbSNP	gnomAD frequency
NM_015450.3(POT1):c.1087C>T (p.Arg363Ter)	rs756198077	0.00004
NM_015450.3(POT1):c.1071dup (p.Gln358fs)	rs750470470	0.00003
NM_015450.3(POT1):c.1164-1G>A	rs866612394	0.00002
NM_015450.3(POT1):c.991C>T (p.Gln331Ter)	rs531061783	0.00001
NC_000007.13:g.(?_124464016)_(124537227_?)del
NC_000007.13:g.(?_124482851)_(124483027_?)del
NC_000007.13:g.(?_124486986)_(124537227_?)del
NC_000007.13:g.(?_124491926)_(124537227_?)del
NC_000007.13:g.(?_124499001)_(124511105_?)del
NC_000007.13:g.(?_124503394)_(124537227_?)del
NC_000007.13:g.(?_124510955)_(124537227_?)del
NC_000007.14:g.(?_124823952)_(124897183_?)del
NC_000007.14:g.(?_124840963)_(124853148_?)del
NC_000007.14:g.(?_124852966)_(124853144_?)del
NC_000007.14:g.(?_124892256)_(124892390_?)del
NM_015450.3(POT1):c.10-2A>C	rs1554434788
NM_015450.3(POT1):c.1026T>G (p.Tyr342Ter)
NM_015450.3(POT1):c.1030G>T (p.Glu344Ter)	rs951589289
NM_015450.3(POT1):c.1060_1063del (p.Gln354fs)
NM_015450.3(POT1):c.1065dup (p.Ala356fs)	rs1225878757
NM_015450.3(POT1):c.1071del (p.Gln358fs)	rs1562981913
NM_015450.3(POT1):c.1072C>T (p.Gln358Ter)	rs1562981898
NM_015450.3(POT1):c.1126C>T (p.Gln376Ter)
NM_015450.3(POT1):c.1147_1151del (p.Pro383fs)	rs1554420583
NM_015450.3(POT1):c.118G>T (p.Gly40Ter)	rs1796390355
NM_015450.3(POT1):c.1222del (p.Thr408fs)
NM_015450.3(POT1):c.1251del (p.Leu418fs)
NM_015450.3(POT1):c.1262C>A (p.Ser421Ter)	rs1413163992
NM_015450.3(POT1):c.1272G>A (p.Trp424Ter)	rs2116461581
NM_015450.3(POT1):c.1294C>T (p.Arg432Ter)	rs758341603
NM_015450.3(POT1):c.129T>A (p.Tyr43Ter)
NM_015450.3(POT1):c.1300del (p.Lys433_Val434insTer)	rs1795015022
NM_015450.3(POT1):c.1322dup (p.Asn441fs)	rs1358966427
NM_015450.3(POT1):c.1332del (p.Leu445fs)
NM_015450.3(POT1):c.1361del (p.Leu453_Leu454insTer)
NM_015450.3(POT1):c.1379_1380del (p.Leu460fs)	rs2116444583
NM_015450.3(POT1):c.1381_1382del (p.Leu460_Ser461insTer)	rs2116444559
NM_015450.3(POT1):c.1400C>A (p.Ser467Ter)	rs1410842025
NM_015450.3(POT1):c.1411_1414delinsTTTTT (p.Asn471fs)	rs1794873983
NM_015450.3(POT1):c.1414_1415insT (p.Ser472fs)	rs1794873824
NM_015450.3(POT1):c.1426_1427insGCCGGGCGCGGTGGCTCGCGCCTGTAGTCCCAGCACGTCGGGAGGCCGAGGCGGGAGTATGGCGTGGACACGGGAACCGGANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAATAGTGTAATTCCTG (p.Val476delinsGlyArgAlaArgTrpLeuAlaProValValProAlaArgArgGluAlaGluAlaGlyValTrpArgGlyHisGlyAsnArgXaaXaaXaaXaaLysLysLysLysLysLysLysTer)
NM_015450.3(POT1):c.1475_1476insA (p.Phe492fs)
NM_015450.3(POT1):c.147del (p.Ile49fs)	rs1064794328
NM_015450.3(POT1):c.1483C>T (p.Gln495Ter)
NM_015450.3(POT1):c.1502_1503del (p.Tyr501fs)	rs2116443784
NM_015450.3(POT1):c.1516dup (p.Cys506fs)	rs1584749232
NM_015450.3(POT1):c.1518T>A (p.Cys506Ter)	rs1554416461
NM_015450.3(POT1):c.154C>T (p.Gln52Ter)
NM_015450.3(POT1):c.1571G>A (p.Trp524Ter)
NM_015450.3(POT1):c.1572G>A (p.Trp524Ter)	rs1794703569
NM_015450.3(POT1):c.1593del (p.Ala532fs)	rs2116421906
NM_015450.3(POT1):c.1615C>T (p.Gln539Ter)	rs2116415082
NM_015450.3(POT1):c.161dup (p.Asn54fs)	rs1554429205
NM_015450.3(POT1):c.1629_1632dup (p.Thr545fs)
NM_015450.3(POT1):c.1630dup (p.Met544fs)
NM_015450.3(POT1):c.1639_1679dup (p.Met560delinsIleHisLeuMetMetGluGlnGluTyrTer)	rs1794651890
NM_015450.3(POT1):c.1672dup (p.Tyr558fs)	rs2116414744
NM_015450.3(POT1):c.1682del (p.Asp561fs)
NM_015450.3(POT1):c.169_170dup (p.Leu57_Thr58insTer)
NM_015450.3(POT1):c.191del (p.Gly64fs)	rs1795853533
NM_015450.3(POT1):c.1A>G (p.Met1Val)	rs1584510207
NM_015450.3(POT1):c.212dup (p.Ile72fs)	rs1795852638
NM_015450.3(POT1):c.217del (p.Tyr73fs)
NM_015450.3(POT1):c.224del (p.Asn75fs)
NM_015450.3(POT1):c.224dup (p.Asn75fs)	rs2116567355
NM_015450.3(POT1):c.255+1G>T	rs1584777699
NM_015450.3(POT1):c.255G>A (p.Lys85=)	rs747851551
NM_015450.3(POT1):c.258dup (p.Gln87fs)	rs1230015941
NM_015450.3(POT1):c.279_280del (p.Gln94fs)	rs2116542675
NM_015450.3(POT1):c.281_282del (p.Gln94fs)	rs1397398300
NM_015450.3(POT1):c.285_286insCT (p.Ile96fs)	rs1795652293
NM_015450.3(POT1):c.2T>C (p.Met1Thr)	rs2116643224
NM_015450.3(POT1):c.2_9dup (p.Val4fs)	rs1796511665
NM_015450.3(POT1):c.2del (p.Met1fs)
NM_015450.3(POT1):c.312_369dup (p.Asn124delinsAspValTer)
NM_015450.3(POT1):c.329dup (p.Leu110fs)	rs2116542410
NM_015450.3(POT1):c.33T>G (p.Tyr11Ter)
NM_015450.3(POT1):c.349C>T (p.Arg117Cys)	rs780936436
NM_015450.3(POT1):c.36_37dup (p.Pro13fs)
NM_015450.3(POT1):c.371del (p.Asn124fs)
NM_015450.3(POT1):c.373_374del (p.Phe125fs)	rs1584773024
NM_015450.3(POT1):c.3G>A (p.Met1Ile)
NM_015450.3(POT1):c.43_58del (p.Asn15fs)	rs1796391959
NM_015450.3(POT1):c.449T>G (p.Leu150Ter)	rs918544320
NM_015450.3(POT1):c.533del (p.Ser178fs)
NM_015450.3(POT1):c.562_563del (p.Arg188fs)	rs2116526564
NM_015450.3(POT1):c.567_568del (p.Pro190fs)
NM_015450.3(POT1):c.582G>A (p.Trp194Ter)
NM_015450.3(POT1):c.631dup (p.His211fs)	rs2116525878
NM_015450.3(POT1):c.669C>G (p.Tyr223Ter)	rs1307901642
NM_015450.3(POT1):c.719del (p.Arg240fs)	rs2116505279
NM_015450.3(POT1):c.744_745insA (p.Gln249fs)	rs2116505095
NM_015450.3(POT1):c.766C>T (p.Gln256Ter)
NM_015450.3(POT1):c.777_781del (p.Leu259fs)	rs2116504894
NM_015450.3(POT1):c.782T>G (p.Leu261Ter)	rs1795353084
NM_015450.3(POT1):c.809G>A (p.Ser270Asn)	rs587777477
NM_015450.3(POT1):c.812dup (p.Tyr271Ter)
NM_015450.3(POT1):c.848_849del (p.Asn282_Ser283insTer)
NM_015450.3(POT1):c.854_855del (p.Val285fs)
NM_015450.3(POT1):c.869+4del	rs1445280218
NM_015450.3(POT1):c.873_885del (p.Asp291fs)	rs2116501128
NM_015450.3(POT1):c.892del (p.Thr298fs)
NM_015450.3(POT1):c.9+4A>C
NM_015450.3(POT1):c.910dup (p.Asp304fs)
NM_015450.3(POT1):c.921T>A (p.Cys307Ter)
NM_015450.3(POT1):c.926C>G (p.Ser309Ter)	rs746091720

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