ClinVar Miner

List of variants in gene ALG8 studied for abdominal and pelvic region disorder

Included ClinVar conditions (956):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 19
Download table as spreadsheet
NM_001007027.2(ALG8):c.*272A>G rs1263505
NM_024079.5(ALG8):c.1038+1G>T rs202112771
NM_024079.5(ALG8):c.1090C>T (p.Arg364Ter) rs376161880
NM_024079.5(ALG8):c.1285A>G (p.Ile429Val) rs200068321
NM_024079.5(ALG8):c.1293C>G (p.Ile431Met)
NM_024079.5(ALG8):c.1316T>C (p.Ile439Thr) rs17825668
NM_024079.5(ALG8):c.139A>C (p.Thr47Pro) rs121908293
NM_024079.5(ALG8):c.1507A>G (p.Ile503Val) rs17856033
NM_024079.5(ALG8):c.251A>G (p.Tyr84Cys) rs61995921
NM_024079.5(ALG8):c.396dup (p.Val133fs) rs753631154
NM_024079.5(ALG8):c.413del (p.Thr138fs) rs387906277
NM_024079.5(ALG8):c.478+1G>A rs139832787
NM_024079.5(ALG8):c.535C>T (p.Arg179Ter) rs762811727
NM_024079.5(ALG8):c.665A>G (p.Asn222Ser) rs665278
NM_024079.5(ALG8):c.673+4A>G rs1470636347
NM_024079.5(ALG8):c.803G>A (p.Arg268Gln) rs61995925
NM_024079.5(ALG8):c.824G>A (p.Gly275Asp) rs121908294
NM_024079.5(ALG8):c.856T>G (p.Trp286Gly) rs794727931
NM_024079.5(ALG8):c.96-2A>G rs1555073109

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.