ClinVar Miner

List of variants reported as likely benign for Transcobalamin II deficiency by Illumina Clinical Services Laboratory,Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
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HGVS dbSNP
NM_000355.3(TCN2):c.-250C>T rs5753231
NM_000355.4(TCN2):c.*127C>T rs12160073
NM_000355.4(TCN2):c.*29C>A rs190828416
NM_000355.4(TCN2):c.*313dup rs397940476
NM_000355.4(TCN2):c.*82C>T rs12169610
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.1127T>C (p.Leu376Ser) rs1131603
NM_000355.4(TCN2):c.1196G>A (p.Arg399Gln) rs4820889
NM_000355.4(TCN2):c.230A>T (p.Lys77Met) rs75680863
NM_000355.4(TCN2):c.643C>T (p.Arg215Trp) rs35838082
NM_000355.4(TCN2):c.67A>G (p.Ile23Val) rs9606756
NM_000355.4(TCN2):c.998C>T (p.Thr333Met) rs117458738
NM_001184726.1(TCN2):c.-215C>T rs79083159

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