List of variants in gene TAT reported as likely pathogenic

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 41

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000353.3(TAT):c.340G>A (p.Gly114Ser)	rs759311161	0.00002
NM_000353.3(TAT):c.1224+1G>C	rs2044180453	0.00001
NM_000353.3(TAT):c.1297C>T (p.Arg433Trp)	rs761817519	0.00001
NM_000353.3(TAT):c.1298G>A (p.Arg433Gln)	rs775488556	0.00001
NM_000353.3(TAT):c.235+1G>A	rs748924248	0.00001
NM_000353.3(TAT):c.355C>T (p.Arg119Trp)	rs758306831	0.00001
NM_000353.3(TAT):c.889C>T (p.Arg297Ter)	rs758491525	0.00001
NM_000353.3(TAT):c.912+1G>A	rs2044196815	0.00001
NM_000353.3(TAT):c.916C>T (p.Arg306Ter)	rs1316166172	0.00001
NM_000353.3(TAT):c.1015del (p.Tyr339fs)	rs2507662751
NM_000353.3(TAT):c.1028_1029del (p.Leu343fs)	rs2507662705
NM_000353.3(TAT):c.1037_1038del (p.Leu346fs)	rs2507662681
NM_000353.3(TAT):c.1041+2T>C	rs113758103
NM_000353.3(TAT):c.1041+2T>G	rs113758103
NM_000353.3(TAT):c.1042-2_1042del	rs2507661980
NM_000353.3(TAT):c.1047del (p.Asn349fs)	rs1555537673
NM_000353.3(TAT):c.1125+1G>T	rs1555537662
NM_000353.3(TAT):c.1224G>T (p.Thr408=)	rs756743947
NM_000353.3(TAT):c.169C>T (p.Arg57Ter)	rs118203914
NM_000353.3(TAT):c.177dup (p.Val60fs)	rs1555538156
NM_000353.3(TAT):c.18_19del (p.Gln7fs)	rs2507673070
NM_000353.3(TAT):c.1A>G (p.Met1Val)	rs1426882225
NM_000353.3(TAT):c.226dup (p.Leu76fs)	rs746077579
NM_000353.3(TAT):c.274G>T (p.Glu92Ter)
NM_000353.3(TAT):c.274_275del (p.Glu92fs)	rs2507672235
NM_000353.3(TAT):c.283C>T (p.Gln95Ter)	rs2507672211
NM_000353.3(TAT):c.308_309delinsAA (p.Ser103Ter)	rs2145235661
NM_000353.3(TAT):c.313A>T (p.Lys105Ter)	rs2507672161
NM_000353.3(TAT):c.340+2T>C	rs1555538138
NM_000353.3(TAT):c.341G>C (p.Gly114Ala)	rs1323639275
NM_000353.3(TAT):c.396_408+201del	rs2507668899
NM_000353.3(TAT):c.707-1G>A	rs1555537814
NM_000353.3(TAT):c.707-2A>G	rs1005382525
NM_000353.3(TAT):c.759+1G>A	rs2145232021
NM_000353.3(TAT):c.760-1G>T	rs2507664240
NM_000353.3(TAT):c.814del (p.Ile272fs)	rs2044197900
NM_000353.3(TAT):c.825del (p.Cys275fs)	rs2145231253
NM_000353.3(TAT):c.872G>A (p.Trp291Ter)	rs2507663847
NM_000353.3(TAT):c.8dup (p.Tyr4fs)	rs2507673107
NM_000353.3(TAT):c.906_912+12del	rs1555537741
NM_000353.3(TAT):c.913-1G>T

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.