ClinVar Miner

List of variants studied for Transcobalamin II deficiency by Illumina Laboratory Services, Illumina

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Total variants: 82
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HGVS dbSNP gnomAD frequency
NM_000355.3(TCN2):c.-181A>G rs2240433 0.64970
NM_000355.4(TCN2):c.776G>C (p.Arg259Pro) rs1801198 0.63049
NM_000355.4(TCN2):c.*444C>T rs10418 0.26603
NM_000355.3(TCN2):c.-250C>T rs5753231 0.14215
NM_000355.4(TCN2):c.*127C>T rs12160073 0.13925
NM_000355.4(TCN2):c.*82C>T rs12169610 0.13762
NM_000355.4(TCN2):c.67A>G (p.Ile23Val) rs9606756 0.13702
NM_000355.4(TCN2):c.1043C>T (p.Ser348Phe) rs9621049 0.12714
NM_000355.4(TCN2):c.*225A>T rs2072195 0.12516
NM_000355.4(TCN2):c.643C>T (p.Arg215Trp) rs35838082 0.07162
NM_000355.4(TCN2):c.1196G>A (p.Arg399Gln) rs4820889 0.05200
NM_000355.4(TCN2):c.1127T>C (p.Leu376Ser) rs1131603 0.03712
NM_000355.4(TCN2):c.1023G>A (p.Pro341=) rs76802001 0.02514
NM_000355.4(TCN2):c.*382C>T rs56076607 0.01762
NM_000355.4(TCN2):c.265T>C (p.Phe89Leu) rs35915865 0.01306
NM_000355.4(TCN2):c.*300T>G rs187942607 0.00942
NM_000355.4(TCN2):c.840T>C (p.Asp280=) rs79999752 0.00808
NM_000355.3(TCN2):c.-244C>T rs143029449 0.00657
NM_000355.4(TCN2):c.877C>T (p.Leu293=) rs45624233 0.00347
NM_000355.4(TCN2):c.360G>A (p.Arg120=) rs115272037 0.00321
NM_000355.4(TCN2):c.230A>T (p.Lys77Met) rs75680863 0.00255
NM_000355.4(TCN2):c.64+11C>T rs141519384 0.00203
NM_000355.4(TCN2):c.554C>T (p.Pro185Leu) rs146009793 0.00196
NM_000355.4(TCN2):c.280G>A (p.Gly94Ser) rs11557600 0.00162
NM_000355.4(TCN2):c.623G>A (p.Arg208His) rs150472705 0.00154
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.998C>T (p.Thr333Met) rs117458738 0.00108
NM_000355.4(TCN2):c.941-13C>T rs192009509 0.00099
NM_000355.4(TCN2):c.1237A>G (p.Arg413Gly) rs148963479 0.00075
NM_000355.4(TCN2):c.509G>A (p.Arg170Gln) rs117353193 0.00032
NM_000355.4(TCN2):c.903C>T (p.Tyr301=) rs146036025 0.00026
NM_000355.4(TCN2):c.501C>T (p.His167=) rs144652799 0.00024
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.*18C>T rs371703966 0.00012
NM_000355.4(TCN2):c.547G>A (p.Val183Met) rs201925682 0.00011
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.353T>C (p.Phe118Ser) rs199728304 0.00008
NM_000355.4(TCN2):c.-34A>G rs199511962 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.1058C>G (p.Ser353Cys) rs539987014 0.00003
NM_000355.4(TCN2):c.1063G>A (p.Val355Met) rs780429477 0.00003
NM_000355.4(TCN2):c.644G>A (p.Arg215Gln) rs760721315 0.00003
NM_000355.4(TCN2):c.882C>T (p.Pro294=) rs142689742 0.00003
NM_000355.4(TCN2):c.905T>C (p.Ile302Thr) rs754330583 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.459C>T (p.Ser153=) rs201344377 0.00001
NM_000355.4(TCN2):c.529G>A (p.Asp177Asn) rs773855163 0.00001
NM_000355.4(TCN2):c.899C>T (p.Thr300Ile) rs763836785 0.00001
NM_000355.3(TCN2):c.-181A>C rs2240433
NM_000355.3(TCN2):c.-215C>T rs79083159
NM_000355.3(TCN2):c.497_498del (p.Leu166Profs) rs778381859
NM_000355.4(TCN2):c.*173C>T rs896653059
NM_000355.4(TCN2):c.*209G>C rs146450057
NM_000355.4(TCN2):c.*283C>G rs538133033
NM_000355.4(TCN2):c.*29C>A rs190828416
NM_000355.4(TCN2):c.*313dup rs397940476
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.1092G>A (p.Glu364=) rs886057397
NM_000355.4(TCN2):c.408G>C (p.Glu136Asp) rs886057396
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.581-4C>T rs867249218
NM_000355.4(TCN2):c.581-8A>C rs7290898
NM_000355.4(TCN2):c.581-8A>G rs7290898
NM_000355.4(TCN2):c.581-8A>T rs7290898
NM_000355.4(TCN2):c.810G>A (p.Ala270=) rs61748898
NM_000355.4(TCN2):c.810G>T (p.Ala270=) rs61748898

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