ClinVar Miner

List of variants in gene combination ASNS, CZ1P-ASNS reported by Ambry Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 21
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001673.5(ASNS):c.868A>G (p.Met290Val) rs146656175 0.00015
NM_001673.5(ASNS):c.1159G>A (p.Glu387Lys) rs761319175 0.00002
NM_001673.5(ASNS):c.1393C>T (p.Arg465Ter) rs373774032 0.00002
NM_001673.5(ASNS):c.1614G>A (p.Met538Ile) rs767700335 0.00001
NM_001673.5(ASNS):c.1649G>A (p.Arg550His) rs552452349 0.00001
NM_001673.5(ASNS):c.908C>A (p.Ala303Glu) rs1167308898 0.00001
NM_001673.5(ASNS):c.1033A>T (p.Met345Leu) rs766183769
NM_001673.5(ASNS):c.1057C>T (p.Arg353Trp)
NM_001673.5(ASNS):c.1075G>A (p.Val359Met)
NM_001673.5(ASNS):c.1289T>G (p.Leu430Trp) rs1554347511
NM_001673.5(ASNS):c.1291T>C (p.Ser431Pro)
NM_001673.5(ASNS):c.1320+1G>C rs1791277284
NM_001673.5(ASNS):c.1320+5del
NM_001673.5(ASNS):c.1638C>A (p.Asp546Glu)
NM_001673.5(ASNS):c.197A>G (p.Lys66Arg)
NM_001673.5(ASNS):c.416C>T (p.Thr139Ile)
NM_001673.5(ASNS):c.493G>C (p.Val165Leu)
NM_001673.5(ASNS):c.601A>G (p.Met201Val)
NM_001673.5(ASNS):c.620G>T (p.Cys207Phe)
NM_001673.5(ASNS):c.670C>G (p.Pro224Ala)
NM_001673.5(ASNS):c.694A>G (p.Lys232Glu)

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.