ClinVar Miner

List of variants in gene ARL2BP studied for amino acid metabolism disease

Included ClinVar conditions (409):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_012106.4(ARL2BP):c.207+1G>A rs199830550 0.00005
NM_012106.4(ARL2BP):c.134T>G (p.Met45Arg) rs398123053 0.00003
NM_012106.4(ARL2BP):c.293+5G>A rs751471386 0.00001
ARL2BP, 2-BP DEL, 22AG
NM_012106.4(ARL2BP):c.101-1G>C rs879255568
NM_012106.4(ARL2BP):c.207+1G>T rs199830550
NM_012106.4(ARL2BP):c.294-1G>C
NM_012106.4(ARL2BP):c.33_36del (p.Phe13fs)
NM_012106.4(ARL2BP):c.38+2T>G rs1597951232

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.