ClinVar Miner

List of variants in gene AUH reported as likely benign for classic organic aciduria

Included ClinVar conditions (46):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 52
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001698.3(AUH):c.927A>G (p.Glu309=) rs78739693 0.00399
NM_001698.3(AUH):c.381A>G (p.Ile127Met) rs146227896 0.00125
NM_001698.3(AUH):c.598+10A>C rs186203318 0.00066
NM_001698.3(AUH):c.807G>A (p.Arg269=) rs145208407 0.00032
NM_001698.3(AUH):c.936T>C (p.Tyr312=) rs139628387 0.00029
NM_001698.3(AUH):c.262+14G>A rs200386272 0.00019
NM_001698.3(AUH):c.330+13A>T rs374741033 0.00019
NM_001698.3(AUH):c.656-8C>T rs199879150 0.00006
NM_001698.3(AUH):c.720G>A (p.Ala240=) rs780040124 0.00006
NM_001698.3(AUH):c.843+13A>G rs747375365 0.00006
NM_001698.3(AUH):c.795C>T (p.Asp265=) rs761573002 0.00005
NM_001698.3(AUH):c.330+9A>G rs145402420 0.00004
NM_001698.3(AUH):c.844-20T>C rs769924401 0.00004
NM_001698.3(AUH):c.506-9C>T rs537751591 0.00003
NM_001698.3(AUH):c.657G>A (p.Gly219=) rs141110052 0.00003
NM_001698.3(AUH):c.263-11C>T rs759369259 0.00002
NM_001698.3(AUH):c.655+15C>T rs781269099 0.00002
NM_001698.3(AUH):c.655+7G>A rs748099966 0.00002
NM_001698.3(AUH):c.331-8C>T rs758271092 0.00001
NM_001698.3(AUH):c.798G>A (p.Ala266=) rs760509061 0.00001
NM_001698.3(AUH):c.864G>A (p.Val288=) rs199569104 0.00001
NM_001698.3(AUH):c.894+9C>A rs1388023086 0.00001
NM_001698.3(AUH):c.262+10G>A
NM_001698.3(AUH):c.263-10C>T
NM_001698.3(AUH):c.263-15T>C rs1341392485
NM_001698.3(AUH):c.331-12A>G
NM_001698.3(AUH):c.331-14C>T
NM_001698.3(AUH):c.342T>C (p.Ala114=)
NM_001698.3(AUH):c.498C>T (p.Asn166=)
NM_001698.3(AUH):c.505+18C>G
NM_001698.3(AUH):c.505+7A>G
NM_001698.3(AUH):c.506-6T>C
NM_001698.3(AUH):c.506-8C>T
NM_001698.3(AUH):c.546C>T (p.Leu182=)
NM_001698.3(AUH):c.573T>A (p.Ala191=)
NM_001698.3(AUH):c.598+11A>T rs1406913489
NM_001698.3(AUH):c.598+9_598+12del rs749186187
NM_001698.3(AUH):c.599-7G>A
NM_001698.3(AUH):c.655+11T>A
NM_001698.3(AUH):c.656-17T>G
NM_001698.3(AUH):c.714C>T (p.Phe238=) rs1173204062
NM_001698.3(AUH):c.738A>G (p.Lys246=)
NM_001698.3(AUH):c.768C>T (p.His256=)
NM_001698.3(AUH):c.804C>T (p.Tyr268=) rs775342115
NM_001698.3(AUH):c.825G>A (p.Ala275=)
NM_001698.3(AUH):c.894+14dup rs2131194109
NM_001698.3(AUH):c.894+19G>C rs377735590
NM_001698.3(AUH):c.897C>T (p.Val299=)
NM_001698.3(AUH):c.909A>C (p.Thr303=) rs779607746
NM_001698.3(AUH):c.943-16A>G
NM_001698.3(AUH):c.951A>T (p.Pro317=) rs530710210
NM_001698.3(AUH):c.996G>A (p.Arg332=)

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.