ClinVar Miner

List of variants in gene A2ML1 reported as benign by Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 19
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_144670.6(A2ML1):c.2367G>A (p.Pro789=) rs1860927 0.81108
NM_144670.6(A2ML1):c.4020A>G (p.Gln1340=) rs1476910 0.71936
NM_144670.6(A2ML1):c.1476+9G>A rs7136813 0.32464
NM_144670.6(A2ML1):c.3843T>C (p.Val1281=) rs61749073 0.10820
NM_144670.6(A2ML1):c.1275A>G (p.Val425=) rs7308106 0.06706
NM_144670.6(A2ML1):c.3569C>T (p.Ala1190Val) rs73040625 0.05426
NM_144670.6(A2ML1):c.186C>T (p.Thr62=) rs17792974 0.04826
NM_144670.6(A2ML1):c.463-9C>G rs11047493 0.02873
NM_144670.6(A2ML1):c.1109T>C (p.Phe370Ser) rs61744220 0.02860
NM_144670.6(A2ML1):c.1101T>C (p.Asp367=) rs61744222 0.02500
NM_144670.6(A2ML1):c.4234A>G (p.Thr1412Ala) rs7315591 0.02333
NM_144670.6(A2ML1):c.3380C>T (p.Ser1127Leu) rs61749078 0.01369
NM_144670.6(A2ML1):c.3392C>T (p.Thr1131Met) rs7959680 0.01340
NM_144670.6(A2ML1):c.1686T>G (p.Val562=) rs12296765 0.01152
NM_144670.6(A2ML1):c.4325-18A>T rs113456917 0.01045
NM_144670.6(A2ML1):c.2252C>T (p.Ala751Val) rs61741216 0.00991
NM_144670.6(A2ML1):c.3252C>T (p.His1084=) rs61745125 0.00490
NM_144670.6(A2ML1):c.619G>C (p.Gly207Arg) rs11047499
NM_144670.6(A2ML1):c.861C>A (p.Asp287Glu) rs61921916

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.