ClinVar Miner

List of variants in gene ADSL reported by Eurofins NTD LLC (GA)

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 29
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000026.4(ADSL):c.124C>T (p.Leu42=) rs2228415 0.00969
NM_000026.4(ADSL):c.616G>T (p.Ala206Ser) rs148411623 0.00155
NM_000026.4(ADSL):c.895A>G (p.Met299Val) rs34396910 0.00090
NM_000026.4(ADSL):c.702-7T>C rs201509960 0.00045
NM_000026.4(ADSL):c.270T>C (p.Ala90=) rs143275316 0.00039
NM_000026.4(ADSL):c.1277G>A (p.Arg426His) rs119450941 0.00024
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.16G>C (p.Asp6His) rs140064577 0.00016
NM_000026.4(ADSL):c.247C>T (p.Arg83Cys) rs780425464 0.00015
NM_000026.4(ADSL):c.735A>T (p.Arg245=) rs143977255 0.00013
NM_000026.4(ADSL):c.1291G>A (p.Ala431Thr) rs200814886 0.00010
NM_000026.4(ADSL):c.1060A>G (p.Thr354Ala) rs75953451 0.00005
NM_000026.4(ADSL):c.907C>T (p.Arg303Cys) rs373458753 0.00005
NM_000026.4(ADSL):c.1112G>A (p.Arg371Gln) rs192303222 0.00004
NM_000026.4(ADSL):c.408C>T (p.Ala136=) rs368166273 0.00004
NM_000026.4(ADSL):c.11G>T (p.Gly4Val) rs766546584 0.00003
NM_000026.4(ADSL):c.1368+3A>G rs761279806 0.00003
NM_000026.4(ADSL):c.40C>T (p.Arg14Cys) rs766465184 0.00003
NM_000026.4(ADSL):c.887G>A (p.Arg296Gln) rs755059672 0.00002
NM_000026.4(ADSL):c.1337C>A (p.Pro446His) rs755964863 0.00001
NM_000026.4(ADSL):c.1439C>G (p.Ala480Gly) rs796052250 0.00001
NM_000026.4(ADSL):c.307G>T (p.Ala103Ser) rs761359362 0.00001
NM_000026.4(ADSL):c.579G>C (p.Leu193=) rs751928831 0.00001
NM_000026.4(ADSL):c.986G>A (p.Arg329His) rs768203123 0.00001
NM_000026.4(ADSL):c.1207A>C (p.Ile403Leu) rs754714101
NM_000026.4(ADSL):c.216C>T (p.Ile72=) rs145786986
NM_000026.4(ADSL):c.482+5G>A rs886042934
NM_000026.4(ADSL):c.482+8A>G rs886042606

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.