ClinVar Miner

List of variants in gene AGA reported as pathogenic for carbohydrate metabolism disease

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 28
Download table as spreadsheet
HGVS dbSNP
NC_000004.11:g.(?_178363393)_(178363667_?)del
NM_000027.4(AGA):c.101_107del (p.Trp34fs) rs759063638
NM_000027.4(AGA):c.102_108del (p.Thr33_Trp34insTer) rs386833417
NM_000027.4(AGA):c.127_128insATGCGG (p.Ala43_Trp44insAspAla) rs386833418
NM_000027.4(AGA):c.128-2A>G
NM_000027.4(AGA):c.179G>A (p.Gly60Asp) rs121964907
NM_000027.4(AGA):c.200_201del (p.Glu67fs) rs386833420
NM_000027.4(AGA):c.210del (p.Asp70fs)
NM_000027.4(AGA):c.214T>C (p.Ser72Pro) rs121964909
NM_000027.4(AGA):c.216del (p.Ser72_Val73insTer) rs1560950739
NM_000027.4(AGA):c.302C>T (p.Ala101Val) rs121964908
NM_000027.4(AGA):c.319C>T (p.Arg107Ter) rs765070743
NM_000027.4(AGA):c.336del (p.Ile112fs) rs386833422
NM_000027.4(AGA):c.367_371del (p.Thr123fs)
NM_000027.4(AGA):c.373_376del (p.Thr125fs) rs386833425
NM_000027.4(AGA):c.375_376del (p.Leu126fs)
NM_000027.4(AGA):c.454C>T (p.Gln152Ter)
NM_000027.4(AGA):c.473G>A (p.Trp158Ter) rs745976989
NM_000027.4(AGA):c.488G>C (p.Cys163Ser) rs121964904
NM_000027.4(AGA):c.555_558del (p.Gly186fs)
NM_000027.4(AGA):c.595G>T (p.Glu199Ter)
NM_000027.4(AGA):c.698+1del
NM_000027.4(AGA):c.800del (p.Leu267fs) rs794728009
NM_000027.4(AGA):c.800dup (p.Pro268fs) rs386833436
NM_000027.4(AGA):c.859C>T (p.Gln287Ter)
NM_000027.4(AGA):c.904G>A (p.Gly302Arg) rs121964905
NM_000027.4(AGA):c.916T>C (p.Cys306Arg) rs121964906
NM_000027.4(AGA):c.940+1G>T rs386833437

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.