ClinVar Miner

List of variants studied 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: 103
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HGVS dbSNP gnomAD frequency
NM_001062.4(TCN1):c.846C>T (p.Ser282=) rs1042613 0.29591
NM_001062.4(TCN1):c.901G>T (p.Asp301Tyr) rs34324219 0.09123
NM_001062.4(TCN1):c.104G>A (p.Arg35His) rs34528912 0.03247
NM_001062.4(TCN1):c.172del (p.Val58fs) rs34530014 0.01044
NM_001062.4(TCN1):c.401-9C>T rs66980105 0.00579
NM_001062.4(TCN1):c.925G>A (p.Val309Ile) rs72550758 0.00549
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.1221A>C (p.Gly407=) rs571111927 0.00052
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.776A>G (p.Asn259Ser) rs139595894 0.00028
NM_001062.4(TCN1):c.1241-9C>T rs376946665 0.00027
NM_001062.4(TCN1):c.358G>A (p.Asp120Asn) rs80072840 0.00026
NM_001062.4(TCN1):c.980C>G (p.Pro327Arg) rs36044892 0.00026
NM_001062.4(TCN1):c.357C>T (p.Ile119=) rs144166853 0.00019
NM_001062.4(TCN1):c.1262G>A (p.Arg421His) rs189696084 0.00013
NM_001062.4(TCN1):c.337A>G (p.Ile113Val) rs199557500 0.00013
NM_001062.4(TCN1):c.730A>G (p.Thr244Ala) rs147942868 0.00011
NM_001062.4(TCN1):c.1121+9G>A rs370054474 0.00009
NM_001062.4(TCN1):c.683T>C (p.Ile228Thr) rs143824687 0.00009
NM_001062.4(TCN1):c.1241-7T>A rs372679225 0.00008
NM_001062.4(TCN1):c.473A>G (p.Asn158Ser) rs200198188 0.00006
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.542G>A (p.Ser181Asn) rs145017990 0.00004
NM_001062.4(TCN1):c.1005C>T (p.Ser335=) rs772525551 0.00003
NM_001062.4(TCN1):c.1225G>A (p.Glu409Lys) rs140632800 0.00003
NM_001062.4(TCN1):c.322G>A (p.Ala108Thr) rs757531697 0.00003
NM_001062.4(TCN1):c.1114A>G (p.Ile372Val) rs367928670 0.00002
NM_001062.4(TCN1):c.140A>G (p.Asn47Ser) rs778331099 0.00002
NM_001062.4(TCN1):c.497T>C (p.Val166Ala) rs200554043 0.00002
NM_001062.4(TCN1):c.556+5G>A rs755195459 0.00002
NM_001062.4(TCN1):c.1122-16T>G rs767049262 0.00001
NM_001062.4(TCN1):c.1177T>C (p.Cys393Arg) rs755140492 0.00001
NM_001062.4(TCN1):c.214A>T (p.Met72Leu) rs372414904 0.00001
NM_001062.4(TCN1):c.26del (p.Leu9fs) rs1209702636 0.00001
NM_001062.4(TCN1):c.492C>T (p.Ala164=) rs773804679 0.00001
NM_001062.4(TCN1):c.623A>G (p.Lys208Arg) rs762584996 0.00001
NM_001062.4(TCN1):c.706G>A (p.Gly236Ser) rs1242630410 0.00001
NM_001062.4(TCN1):c.727A>C (p.Ser243Arg) rs751144850 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
NC_000011.9:g.(?_59628980)_(59629175_?)dup
NM_001062.4(TCN1):c.1015T>G (p.Ser339Ala)
NM_001062.4(TCN1):c.1071C>A (p.Val357=)
NM_001062.4(TCN1):c.1122-19T>C
NM_001062.4(TCN1):c.112C>A (p.Pro38Thr) rs1853046279
NM_001062.4(TCN1):c.1151C>T (p.Pro384Leu) rs745735811
NM_001062.4(TCN1):c.1171G>T (p.Gly391Cys)
NM_001062.4(TCN1):c.1173C>T (p.Gly391=)
NM_001062.4(TCN1):c.1229C>G (p.Pro410Arg)
NM_001062.4(TCN1):c.1229C>T (p.Pro410Leu) rs751107761
NM_001062.4(TCN1):c.1232T>C (p.Leu411Pro)
NM_001062.4(TCN1):c.1241-16T>G
NM_001062.4(TCN1):c.1286G>A (p.Arg429His)
NM_001062.4(TCN1):c.128T>C (p.Met43Thr)
NM_001062.4(TCN1):c.152G>C (p.Gly51Ala) rs548081467
NM_001062.4(TCN1):c.159C>T (p.Ser53=) rs200361212
NM_001062.4(TCN1):c.160G>A (p.Ala54Thr)
NM_001062.4(TCN1):c.166A>T (p.Asn56Tyr)
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.275C>T (p.Ser92Leu)
NM_001062.4(TCN1):c.276G>A (p.Ser92=)
NM_001062.4(TCN1):c.300G>A (p.Leu100=)
NM_001062.4(TCN1):c.344A>T (p.Asp115Val) rs780641711
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.489C>T (p.Thr163=) rs185999138
NM_001062.4(TCN1):c.505C>T (p.His169Tyr) rs1273915693
NM_001062.4(TCN1):c.524_530del (p.Lys175fs)
NM_001062.4(TCN1):c.54T>A (p.Ile18=)
NM_001062.4(TCN1):c.557A>C (p.Asp186Ala) rs1346783372
NM_001062.4(TCN1):c.587C>T (p.Thr196Ile)
NM_001062.4(TCN1):c.596AGA[1] (p.Lys200del)
NM_001062.4(TCN1):c.597G>T (p.Lys199Asn) rs200450074
NM_001062.4(TCN1):c.614G>A (p.Gly205Glu)
NM_001062.4(TCN1):c.622A>G (p.Lys208Glu)
NM_001062.4(TCN1):c.648C>T (p.Asn216=)
NM_001062.4(TCN1):c.660T>C (p.Tyr220=)
NM_001062.4(TCN1):c.662C>T (p.Thr221Ile)
NM_001062.4(TCN1):c.69C>A (p.Cys23Ter) rs749820775
NM_001062.4(TCN1):c.69C>T (p.Cys23=) rs749820775
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.82del (p.Glu27_Val28insTer)
NM_001062.4(TCN1):c.909C>T (p.Asn303=)
NM_001062.4(TCN1):c.937+17G>T
NM_001062.4(TCN1):c.994T>G (p.Ser332Ala) rs1852912432
NM_001062.4(TCN1):c.9G>T (p.Gln3His)

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