ClinVar Miner

List of variants in gene TCN2 reported as uncertain significance for transcobalamin II deficiency

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 202
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000355.4(TCN2):c.138C>T (p.Ser46=) rs143250551 0.00148
NM_000355.4(TCN2):c.296A>C (p.Lys99Thr) rs150225103 0.00135
NM_000355.4(TCN2):c.428-4T>C rs201408393 0.00134
NM_000355.4(TCN2):c.523G>A (p.Val175Met) rs142791153 0.00134
NM_000355.4(TCN2):c.*381T>G rs149713328 0.00128
NM_000355.4(TCN2):c.1237A>G (p.Arg413Gly) rs148963479 0.00075
NM_000355.4(TCN2):c.784G>C (p.Glu262Gln) rs61743653 0.00056
NM_000355.4(TCN2):c.809C>T (p.Ala270Val) rs201392026 0.00056
NM_000355.4(TCN2):c.130C>T (p.Arg44Trp) rs374992877 0.00053
NM_000355.4(TCN2):c.1229C>G (p.Ala410Gly) rs145807876 0.00031
NM_000355.4(TCN2):c.539T>C (p.Leu180Pro) rs142651651 0.00026
NM_000355.4(TCN2):c.903C>T (p.Tyr301=) rs146036025 0.00026
NM_000355.4(TCN2):c.522C>T (p.Ser174=) rs537115632 0.00021
NM_000355.4(TCN2):c.*405T>C rs539828054 0.00019
NM_000355.4(TCN2):c.1017C>G (p.Leu339=) rs35997415 0.00019
NM_000355.4(TCN2):c.572A>G (p.His191Arg) rs151172486 0.00018
NM_000355.4(TCN2):c.331G>A (p.Ala111Thr) rs778150805 0.00014
NM_000355.4(TCN2):c.756C>G (p.Phe252Leu) rs142553702 0.00013
NM_000355.4(TCN2):c.*18C>T rs371703966 0.00012
NM_000355.4(TCN2):c.164A>G (p.Tyr55Cys) rs201701227 0.00010
NM_000355.4(TCN2):c.921A>C (p.Pro307=) rs138738105 0.00010
NM_000355.4(TCN2):c.*520T>C rs953408654 0.00009
NM_000355.4(TCN2):c.184A>G (p.Ser62Gly) rs145474456 0.00009
NM_000355.4(TCN2):c.883G>A (p.Val295Ile) rs770684965 0.00009
NM_000355.4(TCN2):c.353T>C (p.Phe118Ser) rs199728304 0.00008
NM_000355.4(TCN2):c.424A>G (p.Ile142Val) rs200771616 0.00008
NM_000355.4(TCN2):c.521G>A (p.Ser174Asn) rs375193056 0.00008
NM_000355.4(TCN2):c.855T>A (p.Asn285Lys) rs376839271 0.00008
NM_000355.4(TCN2):c.482T>C (p.Ile161Thr) rs763642038 0.00007
NM_000355.4(TCN2):c.139C>A (p.Leu47Met) rs200833932 0.00006
NM_000355.4(TCN2):c.391C>T (p.Leu131Phe) rs747887520 0.00006
NM_000355.4(TCN2):c.667A>G (p.Ile223Val) rs144889471 0.00006
NM_000355.4(TCN2):c.409G>A (p.Asp137Asn) rs775586639 0.00005
NM_000355.4(TCN2):c.857C>T (p.Ala286Val) rs149231407 0.00005
NM_000355.4(TCN2):c.970C>T (p.Pro324Ser) rs149299209 0.00005
NM_000355.4(TCN2):c.1089T>G (p.His363Gln) rs772074405 0.00004
NM_000355.4(TCN2):c.299C>T (p.Pro100Leu) rs752901101 0.00004
NM_000355.4(TCN2):c.422C>G (p.Ala141Gly) rs534564986 0.00004
NM_000355.4(TCN2):c.653G>A (p.Arg218Gln) rs759762355 0.00004
NM_000355.4(TCN2):c.737C>T (p.Thr246Ile) rs147738100 0.00004
NM_000355.4(TCN2):c.1058C>G (p.Ser353Cys) rs539987014 0.00003
NM_000355.4(TCN2):c.1063G>A (p.Val355Met) rs780429477 0.00003
NM_000355.4(TCN2):c.323A>T (p.Tyr108Phe) rs781309237 0.00003
NM_000355.4(TCN2):c.644G>A (p.Arg215Gln) rs760721315 0.00003
NM_000355.4(TCN2):c.70C>T (p.Pro24Ser) rs755866662 0.00003
NM_000355.4(TCN2):c.787C>G (p.Leu263Val) rs201848801 0.00003
NM_000355.4(TCN2):c.882C>T (p.Pro294=) rs142689742 0.00003
NM_000355.4(TCN2):c.1022C>T (p.Pro341Leu) rs1017195499 0.00002
NM_000355.4(TCN2):c.1039A>T (p.Ile347Phe) rs761778896 0.00002
NM_000355.4(TCN2):c.1139A>C (p.Tyr380Ser) rs746024609 0.00002
NM_000355.4(TCN2):c.1246G>A (p.Asp416Asn) rs773473997 0.00002
NM_000355.4(TCN2):c.175C>T (p.Arg59Cys) rs757905563 0.00002
NM_000355.4(TCN2):c.271G>A (p.Glu91Lys) rs559879608 0.00002
NM_000355.4(TCN2):c.368A>G (p.Lys123Arg) rs368757546 0.00002
NM_000355.4(TCN2):c.568C>T (p.His190Tyr) rs757378346 0.00002
NM_000355.4(TCN2):c.652C>T (p.Arg218Trp) rs754057087 0.00002
NM_000355.4(TCN2):c.753+5G>A rs749028271 0.00002
NM_000355.4(TCN2):c.859C>T (p.Leu287Phe) rs369458782 0.00002
NM_000355.4(TCN2):c.905T>C (p.Ile302Thr) rs754330583 0.00002
NM_000355.4(TCN2):c.944T>C (p.Met315Thr) rs764172898 0.00002
NM_000355.4(TCN2):c.*329G>A rs779850312 0.00001
NM_000355.4(TCN2):c.*37C>T rs531866634 0.00001
NM_000355.4(TCN2):c.*383C>T rs896720175 0.00001
NM_000355.4(TCN2):c.1084G>C (p.Ala362Pro) rs1237571997 0.00001
NM_000355.4(TCN2):c.109C>T (p.His37Tyr) rs1326813642 0.00001
NM_000355.4(TCN2):c.1141T>G (p.Leu381Val) rs2087720823 0.00001
NM_000355.4(TCN2):c.1163C>T (p.Ala388Val) rs774428161 0.00001
NM_000355.4(TCN2):c.1168G>A (p.Gly390Arg) rs367605153 0.00001
NM_000355.4(TCN2):c.1205A>G (p.Asn402Ser) rs749591278 0.00001
NM_000355.4(TCN2):c.1225A>G (p.Ile409Val) rs371229602 0.00001
NM_000355.4(TCN2):c.131G>A (p.Arg44Gln) rs770055978 0.00001
NM_000355.4(TCN2):c.274G>A (p.Asp92Asn) rs528704555 0.00001
NM_000355.4(TCN2):c.421G>A (p.Ala141Thr) rs762973293 0.00001
NM_000355.4(TCN2):c.425T>C (p.Ile142Thr) rs200483369 0.00001
NM_000355.4(TCN2):c.430C>T (p.His144Tyr) rs747296848 0.00001
NM_000355.4(TCN2):c.459C>T (p.Ser153=) rs201344377 0.00001
NM_000355.4(TCN2):c.529G>A (p.Asp177Asn) rs773855163 0.00001
NM_000355.4(TCN2):c.553C>A (p.Pro185Thr) rs759922664 0.00001
NM_000355.4(TCN2):c.566G>A (p.Gly189Asp) rs777945731 0.00001
NM_000355.4(TCN2):c.65-6T>A rs1602043415 0.00001
NM_000355.4(TCN2):c.721G>A (p.Gly241Arg) rs1273929738 0.00001
NM_000355.4(TCN2):c.766T>G (p.Ser256Ala) rs752978666 0.00001
NM_000355.4(TCN2):c.899C>T (p.Thr300Ile) rs763836785 0.00001
NM_000355.4(TCN2):c.931G>A (p.Ala311Thr) rs2087605207 0.00001
NC_000022.10:g.(?_31003319)_(31022508_?)dup
NC_000022.10:g.(?_31008840)_(31013502_?)del
NM_000355.4(TCN2):c.*173C>T rs896653059
NM_000355.4(TCN2):c.*283C>G rs538133033
NM_000355.4(TCN2):c.*415T>G rs560130628
NM_000355.4(TCN2):c.*93G>C rs886057398
NM_000355.4(TCN2):c.1021C>A (p.Pro341Thr) rs746722274
NM_000355.4(TCN2):c.1021C>G (p.Pro341Ala) rs746722274
NM_000355.4(TCN2):c.1025C>T (p.Pro342Leu)
NM_000355.4(TCN2):c.102G>C (p.Leu34Phe)
NM_000355.4(TCN2):c.1037C>T (p.Ser346Phe)
NM_000355.4(TCN2):c.1043C>G (p.Ser348Cys) rs9621049
NM_000355.4(TCN2):c.1045G>C (p.Val349Leu) rs2087628967
NM_000355.4(TCN2):c.1052C>T (p.Ala351Val) rs951348375
NM_000355.4(TCN2):c.1055G>A (p.Gly352Glu) rs778691896
NM_000355.4(TCN2):c.1061C>G (p.Thr354Ser)
NM_000355.4(TCN2):c.1084G>T (p.Ala362Ser) rs1237571997
NM_000355.4(TCN2):c.1087C>T (p.His363Tyr) rs2087629933
NM_000355.4(TCN2):c.1088A>G (p.His363Arg)
NM_000355.4(TCN2):c.1092G>A (p.Glu364=) rs886057397
NM_000355.4(TCN2):c.1106C>G (p.Thr369Arg)
NM_000355.4(TCN2):c.1109A>G (p.Tyr370Cys) rs1406364381
NM_000355.4(TCN2):c.1121CCT[1] (p.Ser375del) rs2087720255
NM_000355.4(TCN2):c.112C>G (p.Leu38Val)
NM_000355.4(TCN2):c.1138T>C (p.Tyr380His) rs2087720717
NM_000355.4(TCN2):c.1139A>G (p.Tyr380Cys) rs746024609
NM_000355.4(TCN2):c.116T>C (p.Leu39Ser)
NM_000355.4(TCN2):c.1195C>G (p.Arg399Gly) rs769817524
NM_000355.4(TCN2):c.1196G>C (p.Arg399Pro) rs4820889
NM_000355.4(TCN2):c.1222+3G>A
NM_000355.4(TCN2):c.1235A>G (p.Tyr412Cys) rs745363222
NM_000355.4(TCN2):c.1282T>G (p.Ter428Glu)
NM_000355.4(TCN2):c.1284G>A (p.Ter428=) rs2145563752
NM_000355.4(TCN2):c.154C>T (p.Pro52Ser) rs1555894597
NM_000355.4(TCN2):c.170G>T (p.Gly57Val)
NM_000355.4(TCN2):c.197G>C (p.Gly66Ala) rs2087531325
NM_000355.4(TCN2):c.224G>C (p.Ser75Thr)
NM_000355.4(TCN2):c.230A>G (p.Lys77Arg) rs75680863
NM_000355.4(TCN2):c.242A>C (p.Gln81Pro) rs2087532634
NM_000355.4(TCN2):c.243G>T (p.Gln81His) rs2087532682
NM_000355.4(TCN2):c.258-8_258-6dup
NM_000355.4(TCN2):c.262G>A (p.Ala88Thr)
NM_000355.4(TCN2):c.280G>C (p.Gly94Arg) rs11557600
NM_000355.4(TCN2):c.280G>T (p.Gly94Cys) rs11557600
NM_000355.4(TCN2):c.308G>A (p.Gly103Asp)
NM_000355.4(TCN2):c.311A>G (p.Gln104Arg)
NM_000355.4(TCN2):c.319C>T (p.Leu107Phe)
NM_000355.4(TCN2):c.323A>G (p.Tyr108Cys)
NM_000355.4(TCN2):c.334C>G (p.Leu112Val) rs777103002
NM_000355.4(TCN2):c.340G>A (p.Ala114Thr)
NM_000355.4(TCN2):c.343A>G (p.Asn115Asp)
NM_000355.4(TCN2):c.353T>G (p.Phe118Cys) rs199728304
NM_000355.4(TCN2):c.354T>C (p.Phe118=)
NM_000355.4(TCN2):c.362G>A (p.Gly121Asp) rs1602045889
NM_000355.4(TCN2):c.364C>T (p.His122Tyr) rs373115973
NM_000355.4(TCN2):c.376A>G (p.Arg126Gly) rs552020145
NM_000355.4(TCN2):c.378G>C (p.Arg126Ser)
NM_000355.4(TCN2):c.408G>C (p.Glu136Asp) rs886057396
NM_000355.4(TCN2):c.416A>G (p.Lys139Arg)
NM_000355.4(TCN2):c.426T>C (p.Ile142=)
NM_000355.4(TCN2):c.427+3G>A
NM_000355.4(TCN2):c.433G>A (p.Asp145Asn)
NM_000355.4(TCN2):c.442G>T (p.Gly148Cys)
NM_000355.4(TCN2):c.445C>T (p.His149Tyr)
NM_000355.4(TCN2):c.447C>A (p.His149Gln) rs770630089
NM_000355.4(TCN2):c.448C>G (p.Pro150Ala) rs776493564
NM_000355.4(TCN2):c.508C>T (p.Arg170Trp)
NM_000355.4(TCN2):c.511G>A (p.Val171Ile)
NM_000355.4(TCN2):c.559C>T (p.His187Tyr) rs1295178933
NM_000355.4(TCN2):c.562C>T (p.Gln188Ter) rs1456983114
NM_000355.4(TCN2):c.565G>A (p.Gly189Ser)
NM_000355.4(TCN2):c.565G>T (p.Gly189Cys)
NM_000355.4(TCN2):c.569A>G (p.His190Arg)
NM_000355.4(TCN2):c.581-4C>T rs867249218
NM_000355.4(TCN2):c.581-8A>G rs7290898
NM_000355.4(TCN2):c.582C>G (p.Asp194Glu) rs762023960
NM_000355.4(TCN2):c.583A>T (p.Thr195Ser) rs2145544190
NM_000355.4(TCN2):c.622C>T (p.Arg208Cys)
NM_000355.4(TCN2):c.625T>C (p.Ser209Pro)
NM_000355.4(TCN2):c.631T>G (p.Phe211Val)
NM_000355.4(TCN2):c.638C>T (p.Pro213Leu) rs774581238
NM_000355.4(TCN2):c.641G>T (p.Gly214Val)
NM_000355.4(TCN2):c.643C>A (p.Arg215=) rs35838082
NM_000355.4(TCN2):c.655A>G (p.Ile219Val) rs2087597138
NM_000355.4(TCN2):c.662T>C (p.Met221Thr)
NM_000355.4(TCN2):c.680G>A (p.Arg227Gln) rs17849434
NM_000355.4(TCN2):c.706C>T (p.Pro236Ser) rs1382507371
NM_000355.4(TCN2):c.70C>A (p.Pro24Thr) rs755866662
NM_000355.4(TCN2):c.70C>G (p.Pro24Ala) rs755866662
NM_000355.4(TCN2):c.716A>G (p.His239Arg) rs1338313632
NM_000355.4(TCN2):c.720T>G (p.Phe240Leu) rs368425204
NM_000355.4(TCN2):c.769C>G (p.Pro257Ala)
NM_000355.4(TCN2):c.772A>G (p.Met258Val) rs781666065
NM_000355.4(TCN2):c.775_776delinsTC (p.Arg259Ser)
NM_000355.4(TCN2):c.776G>A (p.Arg259His) rs1801198
NM_000355.4(TCN2):c.781G>A (p.Ala261Thr)
NM_000355.4(TCN2):c.802C>T (p.Leu268Phe) rs2145544995
NM_000355.4(TCN2):c.808G>A (p.Ala270Thr) rs1329472979
NM_000355.4(TCN2):c.810G>A (p.Ala270=) rs61748898
NM_000355.4(TCN2):c.810G>T (p.Ala270=) rs61748898
NM_000355.4(TCN2):c.839A>T (p.Asp280Val)
NM_000355.4(TCN2):c.840T>A (p.Asp280Glu)
NM_000355.4(TCN2):c.845C>T (p.Ala282Val)
NM_000355.4(TCN2):c.868T>G (p.Ser290Ala) rs1423032257
NM_000355.4(TCN2):c.872A>T (p.Gln291Leu) rs2087603700
NM_000355.4(TCN2):c.886C>G (p.Leu296Val)
NM_000355.4(TCN2):c.892C>T (p.His298Tyr)
NM_000355.4(TCN2):c.895A>G (p.Lys299Glu) rs2087604329
NM_000355.4(TCN2):c.916T>C (p.Phe306Leu)
NM_000355.4(TCN2):c.91G>A (p.Val31Ile) rs2087528743
NM_000355.4(TCN2):c.926G>A (p.Cys309Tyr) rs1396153308
NM_000355.4(TCN2):c.926G>C (p.Cys309Ser) rs1396153308
NM_000355.4(TCN2):c.937C>G (p.Arg313Gly) rs747257199
NM_000355.4(TCN2):c.940+3A>G rs780965553
NM_000355.4(TCN2):c.953C>T (p.Pro318Leu)
NM_000355.4(TCN2):c.977C>T (p.Thr326Ile)
NM_000355.4(TCN2):c.987C>G (p.Ile329Met) rs755892011
NM_000355.4(TCN2):c.988A>G (p.Ile330Val) rs1169605273

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.