List of variants reported as pathogenic for acrodermatitis enteropathica by OMIM

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: 12

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_130849.4(SLC39A4):c.599C>T (p.Pro200Leu)	rs121434287	0.00014
NM_130849.4(SLC39A4):c.1120G>A (p.Gly374Arg)	rs121434289	0.00002
NM_130849.4(SLC39A4):c.283C>T (p.Arg95Cys)	rs121434292	0.00002
NM_130849.4(SLC39A4):c.475-19G>A	rs781908504	0.00001
NM_130849.4(SLC39A4):c.1018_1070dup (p.Thr357_His358insAlaArgSerLeuAlaSerCysCysTer)	rs2130797713
NM_130849.4(SLC39A4):c.1224_1228del (p.Gly409fs)	rs2130796648
NM_130849.4(SLC39A4):c.1576G>A (p.Gly526Arg)	rs121434288
NM_130849.4(SLC39A4):c.318C>A (p.Asn106Lys)	rs121434290
NM_130849.4(SLC39A4):c.909G>C (p.Gln303His)	rs121434293
NM_130849.4(SLC39A4):c.970_973del (p.Ser324fs)	rs2130798769
NM_130849.4(SLC39A4):c.989G>A (p.Gly330Asp)	rs121434291
SLC39A4, 2-KB DEL, UPSTREAM REGION

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.