ClinVar Miner

List of variants reported as uncertain significance for Transcobalamin II deficiency

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ClinVar version:
Total variants: 220
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HGVS dbSNP gnomAD frequency
NM_000355.4(TCN2):c.64+11C>T rs141519384 0.00203
NM_000355.4(TCN2):c.-98T>G rs370882214 0.00150
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.-34A>G rs199511962 0.00005
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_000355.3(TCN2):c.-191G>A rs886057394 0.00004
NM_000355.3(TCN2):c.-240G>A rs16988823 0.00004
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.49C>G (p.Leu17Val) rs759462885 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.10C>T (p.Leu4Phe) rs572942248 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.-67C>T rs1432247695 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.(?_31008840)_(31013502_?)del
NM_000355.3(TCN2):c.-181A>C rs2240433
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.-153C>G rs886057395
NM_000355.4(TCN2):c.-6G>A rs771507572
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.17C>A (p.Ala6Asp) rs2145528950
NM_000355.4(TCN2):c.197G>C (p.Gly66Ala) rs2087531325
NM_000355.4(TCN2):c.19T>C (p.Phe7Leu)
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.31C>G (p.Leu11Val) rs2145528995
NM_000355.4(TCN2):c.323A>G (p.Tyr108Cys)
NM_000355.4(TCN2):c.32T>C (p.Leu11Pro)
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.44G>A (p.Gly15Glu)
NM_000355.4(TCN2):c.46_47delinsTT (p.Ala16Phe) rs2145529052
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.64+4A>T
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
NM_000355.4(TCN2):c.9C>G (p.His3Gln) rs1489889957

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