List of variants in gene TMC8 reported as pathogenic for immune system disorder

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: 16

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_152468.5(TMC8):c.568C>T (p.Arg190Ter)	rs903461633	0.00004
NM_152468.5(TMC8):c.1729G>T (p.Glu577Ter)	rs764753165	0.00001
NC_000017.11:g.(?_78137697)_(78137834_?)del
NM_152468.5(TMC8):c.1084G>T (p.Glu362Ter)	rs121908330
NM_152468.5(TMC8):c.1207_1208del (p.Lys403fs)
NM_152468.5(TMC8):c.1268dup (p.Glu425fs)	rs2075270806
NM_152468.5(TMC8):c.1274del (p.Glu425fs)
NM_152468.5(TMC8):c.1746del (p.Leu583fs)	rs1598923748
NM_152468.5(TMC8):c.423del (p.Asp142fs)
NM_152468.5(TMC8):c.561_583del (p.Ala188fs)
NM_152468.5(TMC8):c.661_662del (p.Leu221fs)	rs761550940
NM_152468.5(TMC8):c.697_698del (p.Leu233fs)
NM_152468.5(TMC8):c.705del (p.Gln236fs)
NM_152468.5(TMC8):c.871_883del (p.Gln291fs)
NM_152468.5(TMC8):c.883_889del (p.Arg295fs)
NM_152468.5(TMC8):c.898del (p.Leu300fs)	rs2145662712

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.