ClinVar Miner

List of variants reported as uncertain significance for transcobalamin I deficiency

Included ClinVar conditions (1):
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Total variants: 44
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HGVS dbSNP gnomAD frequency
NM_001062.4(TCN1):c.776A>G (p.Asn259Ser) rs139595894 0.00028
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.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.683T>C (p.Ile228Thr) rs143824687 0.00009
NM_001062.4(TCN1):c.473A>G (p.Asn158Ser) rs200198188 0.00006
NM_001062.4(TCN1):c.542G>A (p.Ser181Asn) rs145017990 0.00004
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.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.1177T>C (p.Cys393Arg) rs755140492 0.00001
NM_001062.4(TCN1):c.214A>T (p.Met72Leu) rs372414904 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
NC_000011.9:g.(?_59628980)_(59629175_?)dup
NM_001062.4(TCN1):c.1015T>G (p.Ser339Ala)
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.1229C>T (p.Pro410Leu) rs751107761
NM_001062.4(TCN1):c.1232T>C (p.Leu411Pro)
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.160G>A (p.Ala54Thr)
NM_001062.4(TCN1):c.166A>T (p.Asn56Tyr)
NM_001062.4(TCN1):c.275C>T (p.Ser92Leu)
NM_001062.4(TCN1):c.344A>T (p.Asp115Val) rs780641711
NM_001062.4(TCN1):c.505C>T (p.His169Tyr) rs1273915693
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.662C>T (p.Thr221Ile)
NM_001062.4(TCN1):c.69C>T (p.Cys23=) rs749820775
NM_001062.4(TCN1):c.994T>G (p.Ser332Ala) rs1852912432
NM_001062.4(TCN1):c.9G>T (p.Gln3His)

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