ClinVar Miner

List of variants in gene TIMM8A studied for X-linked syndromic intellectual disability

Included ClinVar conditions (165):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
Download table as spreadsheet
HGVS dbSNP
NM_004085.4(TIMM8A):c.*503_*505dup rs4024308
NM_004085.4(TIMM8A):c.112C>T (p.Gln38Ter) rs80356559
NM_004085.4(TIMM8A):c.116del (p.Met39fs) rs869320664
NM_004085.4(TIMM8A):c.127del (p.Cys43fs) rs869320667
NM_004085.4(TIMM8A):c.133-23A>C rs869320666
NM_004085.4(TIMM8A):c.148_157del (p.Lys50fs) rs869320733
NM_004085.4(TIMM8A):c.198C>G (p.Cys66Trp) rs80356560
NM_004085.4(TIMM8A):c.238C>T (p.Arg80Ter) rs1054894
NM_004085.4(TIMM8A):c.70G>T (p.Glu24Ter) rs111033631
NM_004085.4(TIMM8A):c.73del (p.Glu24_Val25insTer) rs869320665
TIMM8A, DEL

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.