List of variants in gene A2ML1 reported as uncertain significance by University of Washington Center for Mendelian Genomics, University of Washington

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 14

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_144670.6(A2ML1):c.3676_3677del (p.Ala1226fs)	rs144686314	0.03504
NM_144670.6(A2ML1):c.2713-8C>A	rs184386564	0.00184
NM_144670.6(A2ML1):c.2197T>C (p.Phe733Leu)	rs117213221	0.00051
NM_144670.6(A2ML1):c.2189G>A (p.Arg730His)	rs200346409	0.00009
NM_144670.6(A2ML1):c.971-8C>T	rs780868782	0.00006
NM_144670.6(A2ML1):c.2329G>A (p.Gly777Arg)	rs201288888	0.00002
NM_144670.6(A2ML1):c.1308A>C (p.Gln436His)	rs780743143
NM_144670.6(A2ML1):c.164C>T (p.Thr55Ile)	rs999028234
NM_144670.6(A2ML1):c.1683G>C (p.Gln561His)	rs1565476223
NM_144670.6(A2ML1):c.2012T>C (p.Leu671Pro)	rs1465018225
NM_144670.6(A2ML1):c.2228C>T (p.Pro743Leu)	rs1565479896
NM_144670.6(A2ML1):c.2545G>T (p.Asp849Tyr)	rs1408810942
NM_144670.6(A2ML1):c.2971G>C (p.Ala991Pro)	rs1565484901
NM_144670.6(A2ML1):c.3491C>T (p.Ala1164Val)	rs1565487941

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.