ClinVar Miner

List of variants in gene TCN2 reported as pathogenic for anemia

Included ClinVar conditions (282):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 45
Download table as spreadsheet
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.1003C>T (p.Gln335Ter) rs771755125
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.172del (p.Leu58fs) rs2145536721
NM_000355.4(TCN2):c.236del (p.Gly79fs) rs2087532435
NM_000355.4(TCN2):c.249_255dup (p.Gly86fs) rs1602043738
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.420_421del (p.Arg140fs)
NM_000355.4(TCN2):c.426del (p.Ile142fs) rs2087564577
NM_000355.4(TCN2):c.427+2T>G rs606231119
NM_000355.4(TCN2):c.428-2A>G rs2087581122
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.581-176A>T rs372866837
NM_000355.4(TCN2):c.623_624del (p.Arg208fs)
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.940+303_1106+746delinsCTGG
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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.