List of variants in gene ADSL 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: 31

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000026.2(ADSL):c.-146C>T	rs909669	0.21102
NC_000022.11:g.40345499dup	rs112981874	0.21041
NC_000022.11:g.40345636C>T	rs2006965	0.20781
NC_000022.11:g.40345817G>C	rs9611320	0.03462
NC_000022.11:g.40345516C>T	rs751367	0.02252
NM_000026.4(ADSL):c.358-4G>A	rs113199851	0.01950
NM_000026.4(ADSL):c.440A>T (p.Lys147Met)	rs11089991	0.01397
NM_000026.4(ADSL):c.124C>T (p.Leu42=)	rs2228415	0.00969
NC_000022.11:g.40345588A>G	rs3044499	0.00792
NC_000022.11:g.40345889C>T	rs185968430	0.00234
NC_000022.11:g.40346058C>T	rs79742008	0.00218
NM_000026.4(ADSL):c.1010+18A>G	rs201019280	0.00168
NM_000026.4(ADSL):c.880T>C (p.Tyr294His)	rs8192461	0.00121
NC_000022.11:g.40345988G>C	rs576999610	0.00086
NM_000026.4(ADSL):c.403-4G>A	rs373652667	0.00064
NM_000026.4(ADSL):c.649C>G (p.His217Asp)	rs199761158	0.00024
NM_000026.4(ADSL):c.357+7G>A	rs199993991	0.00019
NM_000026.4(ADSL):c.-23C>T	rs201625622	0.00016
NM_000026.4(ADSL):c.1200T>C (p.His400=)	rs751401941	0.00005
NM_000026.4(ADSL):c.1112G>A (p.Arg371Gln)	rs192303222	0.00004
NC_000022.11:g.40345588_40345589insAAAAAAAGG	rs377707583
NC_000022.11:g.40345588_40345589insAAAAG	rs377707583
NC_000022.11:g.40345588_40345589insAG	rs377707583
NC_000022.11:g.40345589G>A	rs549370926
NC_000022.11:g.40345596_40345597dup	rs1555903152
NC_000022.11:g.40345597del	rs1555903152
NC_000022.11:g.40345614_40345615del	rs140158876
NC_000022.11:g.40346474CCCCG[3]	rs1237603952
NM_000026.4(ADSL):c.1011-5del	rs1569101323
NM_000026.4(ADSL):c.216C>T (p.Ile72=)	rs145786986
NM_000026.4(ADSL):c.863-11dup

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.