ClinVar Miner

List of variants reported as pathogenic for Transcobalamin II deficiency by Invitae

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Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_000355.4(TCN2):c.428-2_428-1del rs955351335 0.00005
NM_000355.4(TCN2):c.1099G>T (p.Gly367Ter) rs1057520098 0.00001
NM_000355.4(TCN2):c.1106+1G>A rs766478911 0.00001
NC_000022.10:g.(?_31003319)_(31022508_?)del
NC_000022.11:g.(?_30612853)_(30615807_?)del
NM_000355.3(TCN2):c.497_498del (p.Leu166Profs) rs778381859
NM_000355.4(TCN2):c.1033C>T (p.Gln345Ter)
NM_000355.4(TCN2):c.1090G>T (p.Glu364Ter)
NM_000355.4(TCN2):c.1117C>T (p.Gln373Ter) rs1279321570
NM_000355.4(TCN2):c.1127dup (p.Leu376fs)
NM_000355.4(TCN2):c.1139dup (p.Tyr380Ter) rs2087720794
NM_000355.4(TCN2):c.117dup (p.Pro40fs)
NM_000355.4(TCN2):c.134_155del (p.Leu45fs)
NM_000355.4(TCN2):c.236del (p.Gly79fs) rs2087532435
NM_000355.4(TCN2):c.324C>A (p.Tyr108Ter)
NM_000355.4(TCN2):c.324C>G (p.Tyr108Ter)
NM_000355.4(TCN2):c.344del (p.Asn115fs)
NM_000355.4(TCN2):c.350_351insAC (p.Phe118fs)
NM_000355.4(TCN2):c.358_359del (p.Arg120fs)
NM_000355.4(TCN2):c.380del (p.Leu127fs)
NM_000355.4(TCN2):c.38del (p.Val13fs)
NM_000355.4(TCN2):c.420_421del (p.Arg140fs)
NM_000355.4(TCN2):c.426del (p.Ile142fs) rs2087564577
NM_000355.4(TCN2):c.463dup (p.Tyr155fs)
NM_000355.4(TCN2):c.466C>T (p.Gln156Ter)
NM_000355.4(TCN2):c.494_495del (p.Cys165fs)
NM_000355.4(TCN2):c.562C>T (p.Gln188Ter) rs1456983114
NM_000355.4(TCN2):c.632dup (p.Asn212fs)
NM_000355.4(TCN2):c.649_650del (p.Gln217fs)
NM_000355.4(TCN2):c.679C>T (p.Arg227Ter)
NM_000355.4(TCN2):c.766dup (p.Ser256fs) rs1555895066
NM_000355.4(TCN2):c.86_87del (p.His29fs) rs2087528394
NM_000355.4(TCN2):c.882del (p.Val295fs) rs2145545140
NM_000355.4(TCN2):c.927_930del (p.Cys309fs) rs1157135425
NM_000355.4(TCN2):c.937C>T (p.Arg313Ter)
NM_000355.4(TCN2):c.962dup (p.Thr322fs)
NM_000355.4(TCN2):c.964dup (p.Thr322fs)
NM_000355.4(TCN2):c.997dup (p.Thr333fs) rs2145548128

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