List of variants reported as benign for Hereditary acrodermatitis enteropathica

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

Total variants: 29

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_130849.4(SLC39A4):c.751= (p.Arg251=)	rs2977838	0.96739
NM_130849.4(SLC39A4):c.172G>A (p.Ala58Thr)	rs2280838	0.51612
NM_130849.4(SLC39A4):c.193-89A>C	rs2280839	0.49986
NM_130849.4(SLC39A4):c.1287+22C>G	rs736676	0.44902
NM_130849.4(SLC39A4):c.340G>A (p.Ala114Thr)	rs17855765	0.43910
NM_130849.4(SLC39A4):c.1069A>G (p.Thr357Ala)	rs2272662	0.43646
NM_130849.4(SLC39A4):c.1114= (p.Val372=)	rs1871534	0.24978
NM_130849.4(SLC39A4):c.193-113T>C	rs115637224	0.05521
NM_130849.4(SLC39A4):c.1141A>G (p.Thr381Ala)	rs75920625	0.04681
NM_130849.4(SLC39A4):c.63G>C (p.Thr21=)	rs13251676	0.04058
NM_130849.4(SLC39A4):c.850G>A (p.Glu284Lys)	rs7823979	0.02971
NM_130849.4(SLC39A4):c.251C>T (p.Pro84Leu)	rs117535951	0.02765
NM_130849.4(SLC39A4):c.276C>T (p.Tyr92=)	rs4355816	0.02200
NM_130849.4(SLC39A4):c.-21T>G	rs77422016	0.01680
NM_130849.4(SLC39A4):c.473= (p.Met158=)	rs1871533	0.00808
NM_130849.4(SLC39A4):c.948C>T (p.Pro316=)	rs60615103	0.00469
NM_130849.4(SLC39A4):c.532A>T (p.Ser178Cys)	rs113717209	0.00402
NM_130849.4(SLC39A4):c.1495A>G (p.Met499Val)	rs145832695	0.00335
NM_130849.4(SLC39A4):c.10C>T (p.Leu4=)	rs144946747	0.00288
NM_130849.4(SLC39A4):c.1659G>C (p.Leu553=)	rs143778004	0.00170
NM_130849.4(SLC39A4):c.595T>C (p.Leu199=)	rs141199511	0.00155
NM_130849.4(SLC39A4):c.257C>T (p.Pro86Leu)	rs187080747	0.00098
NM_130849.4(SLC39A4):c.390C>T (p.Leu130=)	rs782454483	0.00039
NM_130849.4(SLC39A4):c.1126G>A (p.Ala376Thr)	rs200073988	0.00024
NM_130849.4(SLC39A4):c.1204C>T (p.Arg402Cys)	rs199542349	0.00016
NM_130849.4(SLC39A4):c.646G>A (p.Glu216Lys)	rs200524049	0.00009
NM_130849.4(SLC39A4):c.213C>T (p.Ala71=)	rs577104686	0.00006
NM_130849.4(SLC39A4):c.225C>T (p.Gly75=)	rs376105192	0.00003
NM_130849.4(SLC39A4):c.192+5C>A	rs73374077

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.