ClinVar Miner

List of variants in gene LOC121853040, TCN2 studied for Transcobalamin II deficiency

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Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_000355.3(TCN2):c.-181A>G rs2240433 0.64970
NC_000022.11:g.30607082C>T rs5753231 0.14252
NM_000355.3(TCN2):c.-244C>T rs143029449 0.00657
NM_000355.4(TCN2):c.64+11C>T rs141519384 0.00203
NM_000355.4(TCN2):c.-98T>G rs370882214 0.00136
NM_000355.4(TCN2):c.-34A>G rs199511962 0.00009
NM_000355.4(TCN2):c.64+13C>T rs370228236 0.00005
NM_000355.3(TCN2):c.-240G>A rs16988823 0.00004
NM_000355.4(TCN2):c.10C>T (p.Leu4Phe) rs572942248 0.00004
NM_000355.4(TCN2):c.49C>G (p.Leu17Val) rs759462885 0.00004
NM_000355.3(TCN2):c.-191G>A rs886057394 0.00003
NM_000355.4(TCN2):c.64+14C>T rs756966926 0.00003
NM_000355.4(TCN2):c.18C>T (p.Ala6=) rs773549344 0.00002
NM_000355.4(TCN2):c.-67C>T rs1432247695 0.00001
NM_000355.4(TCN2):c.44G>A (p.Gly15Glu) rs753691523 0.00001
NM_000355.4(TCN2):c.64+12G>A rs777313334 0.00001
NM_000355.4(TCN2):c.64+18A>G rs780327616 0.00001
NM_000355.4(TCN2):c.64+20C>T rs1602039338 0.00001
NM_000355.4(TCN2):c.64+9C>T rs1410673132 0.00001
NM_000355.3(TCN2):c.-181A>C rs2240433
NM_000355.3(TCN2):c.-215C>T rs79083159
NM_000355.4(TCN2):c.-153C>G rs886057395
NM_000355.4(TCN2):c.-6G>A rs771507572
NM_000355.4(TCN2):c.17C>A (p.Ala6Asp) rs2145528950
NM_000355.4(TCN2):c.19T>C (p.Phe7Leu) rs2517894740
NM_000355.4(TCN2):c.21C>T (p.Phe7=) rs200848171
NM_000355.4(TCN2):c.24C>G (p.Leu8=) rs2517894753
NM_000355.4(TCN2):c.27C>T (p.Phe9=) rs2517894763
NM_000355.4(TCN2):c.30T>A (p.Leu10=) rs2145528985
NM_000355.4(TCN2):c.31C>G (p.Leu11Val) rs2145528995
NM_000355.4(TCN2):c.32T>C (p.Leu11Pro) rs2517894782
NM_000355.4(TCN2):c.33G>A (p.Leu11=) rs1027452763
NM_000355.4(TCN2):c.38del (p.Val13fs) rs757114327
NM_000355.4(TCN2):c.3G>A (p.Met1Ile)
NM_000355.4(TCN2):c.46_47delinsTT (p.Ala16Phe) rs2145529052
NM_000355.4(TCN2):c.54T>C (p.Thr18=) rs1288298673
NM_000355.4(TCN2):c.57G>A (p.Glu19=) rs2517894864
NM_000355.4(TCN2):c.64+12_64+16del
NM_000355.4(TCN2):c.64+15T>C rs2517894927
NM_000355.4(TCN2):c.64+16C>G rs2145529135
NM_000355.4(TCN2):c.64+19T>A rs2517894936
NM_000355.4(TCN2):c.64+4A>T rs2517894888
NM_000355.4(TCN2):c.9C>G (p.His3Gln) rs1489889957

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