List of variants in gene ADSL reported as likely pathogenic 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: 29

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000026.4(ADSL):c.736A>G (p.Lys246Glu)	rs119450944	0.00003
NM_000026.4(ADSL):c.1027G>A (p.Glu343Lys)	rs774159147	0.00001
NM_000026.4(ADSL):c.1090G>A (p.Val364Met)	rs370851726	0.00001
NM_000026.4(ADSL):c.1105A>C (p.Ile369Leu)	rs752104617	0.00001
NM_000026.4(ADSL):c.1187G>A (p.Arg396His)	rs763542069	0.00001
NM_000026.4(ADSL):c.1339T>C (p.Ser447Pro)	rs777821034	0.00001
NM_000026.4(ADSL):c.1342T>C (p.Ser448Pro)	rs771121666	0.00001
NM_000026.4(ADSL):c.357+1G>A	rs1275901345	0.00001
NM_000026.4(ADSL):c.580C>T (p.Arg194Cys)	rs1465152683	0.00001
NM_000026.4(ADSL):c.702-2A>G	rs1268264761	0.00001
NM_000026.4(ADSL):c.71C>T (p.Pro24Leu)	rs1257907226	0.00001
NM_000026.4(ADSL):c.78G>A (p.Met26Ile)	rs779612414	0.00001
NM_000026.4(ADSL):c.953C>T (p.Pro318Leu)	rs202064195	0.00001
NC_000022.10:g.(?_40760260)_(40762546_?)del
NM_000026.2(ADSL):c.[1277G>A;994G>C]
NM_000026.4(ADSL):c.-21T>A
NM_000026.4(ADSL):c.1010+1G>C
NM_000026.4(ADSL):c.1152CAT[2] (p.Ile386del)	rs1601596522
NM_000026.4(ADSL):c.1354C>G (p.Arg452Gly)
NM_000026.4(ADSL):c.1355G>C (p.Arg452Pro)	rs775671027
NM_000026.4(ADSL):c.153+1G>T	rs1555903969
NM_000026.4(ADSL):c.341A>C (p.Tyr114Ser)	rs1035500320
NM_000026.4(ADSL):c.358-1G>C	rs2146634231
NM_000026.4(ADSL):c.402+1G>T	rs761551284
NM_000026.4(ADSL):c.403-1G>C
NM_000026.4(ADSL):c.422G>C (p.Arg141Pro)	rs563054392
NM_000026.4(ADSL):c.482+1G>C
NM_000026.4(ADSL):c.725C>T (p.Thr242Ile)	rs1601586359
NM_000026.4(ADSL):c.994G>C (p.Asp332His)	rs776496275

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.