ClinVar Miner

List of variants reported as likely benign for transcobalamin I deficiency by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 46
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HGVS dbSNP gnomAD frequency
NM_001062.4(TCN1):c.1000A>G (p.Ile334Val) rs142805308 0.00272
NM_001062.4(TCN1):c.653G>T (p.Ser218Ile) rs75927196 0.00258
NM_001062.4(TCN1):c.1181C>A (p.Ala394Asp) rs538179287 0.00057
NM_001062.4(TCN1):c.343G>A (p.Asp115Asn) rs35287646 0.00056
NM_001062.4(TCN1):c.855C>T (p.Asn285=) rs72550759 0.00049
NM_001062.4(TCN1):c.450C>T (p.Asp150=) rs139772818 0.00040
NM_001062.4(TCN1):c.879C>T (p.Ala293=) rs143457374 0.00033
NM_001062.4(TCN1):c.924C>T (p.Cys308=) rs146250932 0.00032
NM_001062.4(TCN1):c.1241-9C>T rs376946665 0.00027
NM_001062.4(TCN1):c.357C>T (p.Ile119=) rs144166853 0.00019
NM_001062.4(TCN1):c.1121+9G>A rs370054474 0.00009
NM_001062.4(TCN1):c.1241-7T>A rs372679225 0.00008
NM_001062.4(TCN1):c.954C>T (p.Ser318=) rs138846758 0.00006
NM_001062.4(TCN1):c.99C>T (p.Tyr33=) rs376377467 0.00005
NM_001062.4(TCN1):c.1005C>T (p.Ser335=) rs772525551 0.00003
NM_001062.4(TCN1):c.1122-16T>G rs767049262 0.00001
NM_001062.4(TCN1):c.492C>T (p.Ala164=) rs773804679 0.00001
NM_001062.4(TCN1):c.750C>G (p.Ala250=) rs1217611864 0.00001
NM_001062.4(TCN1):c.951C>A (p.Ile317=) rs549442049 0.00001
NM_001062.4(TCN1):c.1071C>A (p.Val357=)
NM_001062.4(TCN1):c.1122-19T>C
NM_001062.4(TCN1):c.1173C>T (p.Gly391=)
NM_001062.4(TCN1):c.1229C>G (p.Pro410Arg)
NM_001062.4(TCN1):c.1241-16T>G
NM_001062.4(TCN1):c.159C>T (p.Ser53=) rs200361212
NM_001062.4(TCN1):c.173T>C (p.Val58Ala)
NM_001062.4(TCN1):c.180C>T (p.Ser60=)
NM_001062.4(TCN1):c.210C>G (p.Thr70=)
NM_001062.4(TCN1):c.21G>T (p.Leu7=)
NM_001062.4(TCN1):c.259+11del
NM_001062.4(TCN1):c.260-10T>C rs2135110203
NM_001062.4(TCN1):c.260-15T>C
NM_001062.4(TCN1):c.276G>A (p.Ser92=)
NM_001062.4(TCN1):c.300G>A (p.Leu100=)
NM_001062.4(TCN1):c.401-15T>G
NM_001062.4(TCN1):c.414C>G (p.Gly138=)
NM_001062.4(TCN1):c.435C>T (p.Tyr145=)
NM_001062.4(TCN1):c.489C>G (p.Thr163=) rs185999138
NM_001062.4(TCN1):c.54T>A (p.Ile18=)
NM_001062.4(TCN1):c.648C>T (p.Asn216=)
NM_001062.4(TCN1):c.660T>C (p.Tyr220=)
NM_001062.4(TCN1):c.79+16G>A
NM_001062.4(TCN1):c.79+17C>A
NM_001062.4(TCN1):c.80-6C>T
NM_001062.4(TCN1):c.909C>T (p.Asn303=)
NM_001062.4(TCN1):c.937+17G>T

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