List of variants in gene ALDH18A1 reported as benign for amino acid metabolism disease

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: 25

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_002860.4(ALDH18A1):c.88+126A>C	rs9787589	0.76474
NM_002860.4(ALDH18A1):c.304-34A>G	rs2275273	0.66239
NM_002860.4(ALDH18A1):c.*155G>A	rs1053905	0.42481
NM_002860.4(ALDH18A1):c.1606-48T>G	rs2296692	0.42481
NM_002860.4(ALDH18A1):c.2207-46G>A	rs7099284	0.42467
NM_002860.4(ALDH18A1):c.2206+15G>A	rs10882640	0.39029
NM_002860.4(ALDH18A1):c.*699C>T	rs4037	0.28027
NM_002860.4(ALDH18A1):c.2110+24A>T	rs2296691	0.27977
NM_002860.4(ALDH18A1):c.*412T>C	rs8758	0.27959
NM_002860.4(ALDH18A1):c.896C>T (p.Thr299Ile)	rs2275272	0.10214
NM_002860.4(ALDH18A1):c.-79A>G	rs117502632	0.03469
NM_002860.4(ALDH18A1):c.1770C>T (p.Ser590=)	rs11541780	0.03433
NM_002860.4(ALDH18A1):c.1977C>T (p.Ser659=)	rs1804934	0.02975
NM_002860.4(ALDH18A1):c.1029T>C (p.Ile343=)	rs41291566	0.02201
NM_002860.4(ALDH18A1):c.1115C>A (p.Ser372Tyr)	rs3765571	0.01418
NM_002860.4(ALDH18A1):c.*611G>A	rs41291562	0.01242
NM_002860.4(ALDH18A1):c.*140C>T	rs76824727	0.00570
NM_002860.4(ALDH18A1):c.*56T>A	rs114393346	0.00549
NM_002860.4(ALDH18A1):c.2207-3C>T	rs149309642	0.00472
NM_002860.4(ALDH18A1):c.2001G>A (p.Glu667=)	rs78731297	0.00326
NM_002860.4(ALDH18A1):c.1329C>T (p.Ile443=)	rs117709404	0.00134
NM_002860.4(ALDH18A1):c.*227A>G	rs943341	0.00129
NM_002860.4(ALDH18A1):c.1308G>A (p.Leu436=)	rs144816455	0.00112
NM_002860.4(ALDH18A1):c.1606-18del	rs532582192
NM_002860.4(ALDH18A1):c.1924-11del

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.