ClinVar Miner

List of variants reported as benign for Transcobalamin II deficiency

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Total variants: 45
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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.754-31T>C rs2267163 0.62008
NM_000355.4(TCN2):c.*444C>T rs10418 0.26603
NM_000355.4(TCN2):c.753+45_753+46del rs139588634 0.15721
NM_000355.4(TCN2):c.*127C>T rs12160073 0.13925
NM_000355.4(TCN2):c.*82C>T rs12169610 0.13500
NM_000355.4(TCN2):c.67A>G (p.Ile23Val) rs9606756 0.13429
NM_000355.4(TCN2):c.1043C>T (p.Ser348Phe) rs9621049 0.12714
NM_000355.4(TCN2):c.*225A>T rs2072195 0.12259
NM_000355.4(TCN2):c.941-21G>A rs2283873 0.12200
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 0.03634
NM_000355.4(TCN2):c.1023G>A (p.Pro341=) rs76802001 0.02514
NM_000355.4(TCN2):c.*382C>T rs56076607 0.01715
NM_000355.4(TCN2):c.265T>C (p.Phe89Leu) rs35915865 0.01280
NM_000355.4(TCN2):c.65-17C>T rs77763564 0.01278
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.89T>G (p.Leu30Arg) rs116605132 0.00388
NM_000355.4(TCN2):c.877C>T (p.Leu293=) rs45624233 0.00338
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.280G>A (p.Gly94Ser) rs11557600 0.00162
NM_000355.4(TCN2):c.623G>A (p.Arg208His) rs150472705 0.00154
NM_000355.4(TCN2):c.138C>T (p.Ser46=) rs143250551 0.00148
NM_000355.4(TCN2):c.998C>T (p.Thr333Met) rs117458738 0.00144
NM_000355.4(TCN2):c.428-4T>C rs201408393 0.00122
NM_000355.4(TCN2):c.941-13C>T rs192009509 0.00099
NM_000355.4(TCN2):c.427+17C>T rs187924928 0.00066
NM_000355.4(TCN2):c.90G>A (p.Leu30=) rs576996415 0.00056
NM_000355.4(TCN2):c.330C>T (p.Leu110=) rs528481728 0.00040
NM_000355.4(TCN2):c.501C>T (p.His167=) rs144652799 0.00024
NM_000355.4(TCN2):c.547G>A (p.Val183Met) rs201925682 0.00011
NM_000355.4(TCN2):c.427+18G>A rs373712632 0.00009
NM_000355.3(TCN2):c.-215C>T rs79083159
NM_000355.4(TCN2):c.*29C>A rs190828416
NM_000355.4(TCN2):c.428-10dup rs747673857
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.581-9dup rs2145544145
NM_000355.4(TCN2):c.810G>A (p.Ala270=) rs61748898

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