ClinVar Miner

List of variants in gene ASAH1 reported by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 20
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_177924.5(ASAH1):c.1105G>A (p.Val369Ile) rs17636067 0.00379
NM_004315.6(ASAH1):c.35G>C (p.Arg12Pro) rs147896487 0.00155
NM_004315.6(ASAH1):c.108_114del (p.Ser36fs) rs548868946 0.00151
NM_177924.5(ASAH1):c.629T>C (p.Met210Thr) rs141068211 0.00098
NM_177924.5(ASAH1):c.457+7G>A rs189892461 0.00045
NM_177924.5(ASAH1):c.376C>A (p.Pro126Thr) rs199785411 0.00030
NM_177924.5(ASAH1):c.1144G>A (p.Glu382Lys) rs148976489 0.00024
NM_177924.5(ASAH1):c.928A>C (p.Lys310Gln) rs139585444 0.00017
NM_177924.5(ASAH1):c.750G>T (p.Gly250=) rs370895103 0.00009
NM_177924.5(ASAH1):c.721C>T (p.Leu241=) rs373977871 0.00007
NM_177924.5(ASAH1):c.216+6C>G rs1267356970 0.00001
NM_177924.5(ASAH1):c.381A>G (p.Leu127=) rs376826383 0.00001
NM_177924.5(ASAH1):c.96A>C (p.Arg32Ser) rs1564550329 0.00001
NM_004315.6(ASAH1):c.47G>C (p.Arg16Pro) rs200771465
NM_177924.5(ASAH1):c.*618C>T
NM_177924.5(ASAH1):c.183A>G (p.Arg61=) rs559209309
NM_177924.5(ASAH1):c.36G>A (p.Leu12=) rs762489080
NM_177924.5(ASAH1):c.53G>C (p.Cys18Ser) rs757451541
NM_177924.5(ASAH1):c.592G>A (p.Val198Ile) rs151320126
NM_177924.5(ASAH1):c.667C>T (p.Leu223=) rs371332103

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.