ClinVar Miner

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

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Total variants: 52
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HGVS dbSNP
NM_000355.3(TCN2):c.-250C>T rs5753231
NM_000355.3(TCN2):c.497_498del (p.Leu166Profs) rs778381859
NM_000355.4(TCN2):c.*127C>T rs12160073
NM_000355.4(TCN2):c.*209G>C rs146450057
NM_000355.4(TCN2):c.*225A>T rs2072195
NM_000355.4(TCN2):c.*29C>A rs190828416
NM_000355.4(TCN2):c.*300T>G rs187942607
NM_000355.4(TCN2):c.*313dup rs397940476
NM_000355.4(TCN2):c.*381T>G rs149713328
NM_000355.4(TCN2):c.*382C>T rs56076607
NM_000355.4(TCN2):c.*444C>T rs10418
NM_000355.4(TCN2):c.*82C>T rs12169610
NM_000355.4(TCN2):c.*93G>C rs886057398
NM_000355.4(TCN2):c.-153C>G rs886057395
NM_000355.4(TCN2):c.-34A>G rs199511962
NM_000355.4(TCN2):c.-98T>G rs370882214
NM_000355.4(TCN2):c.1017C>G (p.Leu339=) rs35997415
NM_000355.4(TCN2):c.1023G>A (p.Pro341=) rs76802001
NM_000355.4(TCN2):c.1043C>T (p.Ser348Phe) rs9621049
NM_000355.4(TCN2):c.1058C>G (p.Ser353Cys) rs539987014
NM_000355.4(TCN2):c.1092G>A (p.Glu364=) rs886057397
NM_000355.4(TCN2):c.1127T>C (p.Leu376Ser) rs1131603
NM_000355.4(TCN2):c.1196G>A (p.Arg399Gln) rs4820889
NM_000355.4(TCN2):c.138C>T (p.Ser46=) rs143250551
NM_000355.4(TCN2):c.230A>T (p.Lys77Met) rs75680863
NM_000355.4(TCN2):c.265T>C (p.Phe89Leu) rs35915865
NM_000355.4(TCN2):c.353T>C (p.Phe118Ser) rs199728304
NM_000355.4(TCN2):c.408G>C (p.Glu136Asp) rs886057396
NM_000355.4(TCN2):c.428-4T>C rs201408393
NM_000355.4(TCN2):c.459C>T (p.Ser153=) rs201344377
NM_000355.4(TCN2):c.501C>T (p.His167=) rs144652799
NM_000355.4(TCN2):c.509G>A (p.Arg170Gln) rs117353193
NM_000355.4(TCN2):c.554C>T (p.Pro185Leu) rs146009793
NM_000355.4(TCN2):c.562C>T (p.Gln188Ter) rs1456983114
NM_000355.4(TCN2):c.581-8A>C rs7290898
NM_000355.4(TCN2):c.64+11C>T rs141519384
NM_000355.4(TCN2):c.643C>T (p.Arg215Trp) rs35838082
NM_000355.4(TCN2):c.644G>A (p.Arg215Gln) rs760721315
NM_000355.4(TCN2):c.67A>G (p.Ile23Val) rs9606756
NM_000355.4(TCN2):c.776G>C (p.Arg259Pro) rs1801198
NM_000355.4(TCN2):c.810G>T (p.Ala270=) rs61748898
NM_000355.4(TCN2):c.840T>C (p.Asp280=) rs79999752
NM_000355.4(TCN2):c.877C>T (p.Leu293=) rs45624233
NM_000355.4(TCN2):c.903C>T (p.Tyr301=) rs146036025
NM_000355.4(TCN2):c.921A>C (p.Pro307=) rs138738105
NM_000355.4(TCN2):c.941-13C>T rs192009509
NM_000355.4(TCN2):c.998C>T (p.Thr333Met) rs117458738
NM_001184726.1(TCN2):c.-181A>C rs2240433
NM_001184726.1(TCN2):c.-181A>G rs2240433
NM_001184726.1(TCN2):c.-191G>A rs886057394
NM_001184726.1(TCN2):c.-215C>T rs79083159
NM_001184726.1(TCN2):c.-244C>T rs143029449

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