ClinVar Miner

List of variants reported as uncertain significance for Hereditary acrodermatitis enteropathica

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 94
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_130849.4(SLC39A4):c.1150-15G>A rs200673705 0.00148
NM_130849.4(SLC39A4):c.1743C>T (p.Val581=) rs144252108 0.00130
NM_130849.4(SLC39A4):c.518C>T (p.Ala173Val) rs141890870 0.00114
NM_130849.4(SLC39A4):c.257C>T (p.Pro86Leu) rs187080747 0.00098
NM_130849.4(SLC39A4):c.-10G>A rs372200912 0.00086
NM_130849.4(SLC39A4):c.848C>T (p.Ser283Leu) rs150864996 0.00076
NM_130849.4(SLC39A4):c.202G>T (p.Val68Leu) rs190698611 0.00073
NM_130849.4(SLC39A4):c.1426G>A (p.Glu476Lys) rs201400971 0.00065
NM_130849.4(SLC39A4):c.390C>T (p.Leu130=) rs782454483 0.00039
NM_130849.4(SLC39A4):c.509C>T (p.Ala170Val) rs782235616 0.00035
NM_130849.4(SLC39A4):c.324G>A (p.Glu108=) rs149365806 0.00034
NM_130849.4(SLC39A4):c.339C>T (p.Asp113=) rs374534193 0.00031
NM_130849.4(SLC39A4):c.615C>T (p.Phe205=) rs201681875 0.00023
NM_130849.4(SLC39A4):c.659C>T (p.Thr220Met) rs538740246 0.00016
NM_130849.4(SLC39A4):c.540C>T (p.Gly180=) rs201793280 0.00015
NM_130849.4(SLC39A4):c.666C>T (p.Ala222=) rs116345186 0.00013
NM_130849.4(SLC39A4):c.193-8G>C rs529649181 0.00012
NM_130849.4(SLC39A4):c.1020C>T (p.Cys340=) rs368844801 0.00011
NM_130849.4(SLC39A4):c.1022C>T (p.Ala341Val) rs200126079 0.00011
NM_130849.4(SLC39A4):c.301G>A (p.Val101Ile) rs372812102 0.00011
NM_130849.4(SLC39A4):c.285C>T (p.Arg95=) rs369544835 0.00010
NM_130849.4(SLC39A4):c.480C>T (p.Cys160=) rs367915055 0.00010
NM_130849.4(SLC39A4):c.1149+9C>T rs139192292 0.00009
NM_130849.4(SLC39A4):c.592G>A (p.Ala198Thr) rs781818806 0.00009
NM_130849.4(SLC39A4):c.646G>A (p.Glu216Lys) rs200524049 0.00009
NM_130849.4(SLC39A4):c.804+9C>T rs200693339 0.00009
NM_130849.4(SLC39A4):c.1149+7C>T rs782273130 0.00006
NM_130849.4(SLC39A4):c.1323T>C (p.His441=) rs143819461 0.00006
NM_130849.4(SLC39A4):c.213C>T (p.Ala71=) rs577104686 0.00006
NM_130849.4(SLC39A4):c.277G>A (p.Val93Ile) rs782236518 0.00006
NM_130849.4(SLC39A4):c.527C>T (p.Pro176Leu) rs543291496 0.00006
NM_130849.4(SLC39A4):c.538G>A (p.Gly180Ser) rs374400812 0.00006
NM_130849.4(SLC39A4):c.803C>T (p.Thr268Met) rs185494598 0.00006
NM_130849.4(SLC39A4):c.87G>A (p.Leu29=) rs367624191 0.00005
NM_130849.4(SLC39A4):c.1284G>A (p.Pro428=) rs141948792 0.00004
NM_130849.4(SLC39A4):c.1903C>T (p.Leu635=) rs199706667 0.00004
NM_130849.4(SLC39A4):c.594C>T (p.Ala198=) rs782355343 0.00004
NM_130849.4(SLC39A4):c.1409G>A (p.Arg470His) rs782551696 0.00003
NM_130849.4(SLC39A4):c.1429G>A (p.Glu477Lys) rs782756897 0.00003
NM_130849.4(SLC39A4):c.1461G>A (p.Arg487=) rs376361002 0.00003
NM_130849.4(SLC39A4):c.1628-10T>C rs782727114 0.00003
NM_130849.4(SLC39A4):c.510G>A (p.Ala170=) rs370387758 0.00003
NM_130849.4(SLC39A4):c.543C>T (p.Gly181=) rs565516931 0.00003
NM_130849.3(SLC39A4):c.-90T>C rs1554874225 0.00002
NM_130849.4(SLC39A4):c.1035C>A (p.Leu345=) rs782166922 0.00002
NM_130849.4(SLC39A4):c.192+7G>A rs925582486 0.00002
NM_130849.4(SLC39A4):c.264G>A (p.Leu88=) rs1042831645 0.00002
NM_130849.4(SLC39A4):c.435G>C (p.Gln145His) rs782216965 0.00002
NM_130849.4(SLC39A4):c.804G>A (p.Thr268=) rs375732094 0.00002
NM_130849.4(SLC39A4):c.*61A>G rs934570845 0.00001
NM_130849.4(SLC39A4):c.104G>C (p.Gly35Ala) rs782604200 0.00001
NM_130849.4(SLC39A4):c.1125C>T (p.Asp375=) rs556780206 0.00001
NM_130849.4(SLC39A4):c.1234G>A (p.Ala412Thr) rs781956407 0.00001
NM_130849.4(SLC39A4):c.1319G>C (p.Ser440Thr) rs1221755475 0.00001
NM_130849.4(SLC39A4):c.1384C>T (p.Pro462Ser) rs782302424 0.00001
NM_130849.4(SLC39A4):c.1735G>C (p.Val579Leu) rs782658832 0.00001
NM_130849.4(SLC39A4):c.182C>T (p.Pro61Leu) rs537547977 0.00001
NM_130849.4(SLC39A4):c.1837C>T (p.Arg613Trp) rs781843190 0.00001
NM_130849.4(SLC39A4):c.1924G>A (p.Glu642Lys) rs782620896 0.00001
NM_130849.4(SLC39A4):c.54G>A (p.Val18=) rs200773351 0.00001
NM_130849.4(SLC39A4):c.668-10T>C rs886062749 0.00001
NM_130849.4(SLC39A4):c.76G>T (p.Ala26Ser) rs782044154 0.00001
NM_130849.4(SLC39A4):c.*28C>T rs200717604
NM_130849.4(SLC39A4):c.1059C>G (p.Cys353Trp) rs1822069877
NM_130849.4(SLC39A4):c.1066G>T (p.Val356Phe) rs782320992
NM_130849.4(SLC39A4):c.1118C>G (p.Thr373Ser) rs368310239
NM_130849.4(SLC39A4):c.1149+8C>T rs376765006
NM_130849.4(SLC39A4):c.1150G>A (p.Val384Met) rs886062747
NM_130849.4(SLC39A4):c.1174G>C (p.Glu392Gln) rs367660059
NM_130849.4(SLC39A4):c.1225G>C (p.Gly409Arg) rs1554872800
NM_130849.4(SLC39A4):c.1257C>G (p.Leu419=) rs782097184
NM_130849.4(SLC39A4):c.1279G>C (p.Asp427His) rs145813344
NM_130849.4(SLC39A4):c.1371C>T (p.Ser457=) rs782042283
NM_130849.4(SLC39A4):c.138C>A (p.Gly46=) rs1822216217
NM_130849.4(SLC39A4):c.1391C>A (p.Pro464His) rs1554872599
NM_130849.4(SLC39A4):c.1425G>C (p.Ala475=) rs574571465
NM_130849.4(SLC39A4):c.1426G>C (p.Glu476Gln) rs201400971
NM_130849.4(SLC39A4):c.1452T>A (p.Pro484=) rs936284130
NM_130849.4(SLC39A4):c.1511A>G (p.Asp504Gly) rs886062746
NM_130849.4(SLC39A4):c.1529C>G (p.Ala510Gly) rs782365032
NM_130849.4(SLC39A4):c.1534G>T (p.Gly512Trp)
NM_130849.4(SLC39A4):c.1536G>A (p.Gly512=) rs886062745
NM_130849.4(SLC39A4):c.1557C>T (p.Phe519=) rs782606354
NM_130849.4(SLC39A4):c.171C>T (p.Cys57=) rs781945467
NM_130849.4(SLC39A4):c.178G>A (p.Gly60Arg)
NM_130849.4(SLC39A4):c.193-7C>T rs1554873926
NM_130849.4(SLC39A4):c.1937C>T (p.Thr646Ile) rs1038762995
NM_130849.4(SLC39A4):c.235G>A (p.Gly79Arg) rs1822180417
NM_130849.4(SLC39A4):c.258G>A (p.Pro86=) rs369791792
NM_130849.4(SLC39A4):c.359C>T (p.Ala120Val) rs547832653
NM_130849.4(SLC39A4):c.364C>T (p.His122Tyr) rs782564213
NM_130849.4(SLC39A4):c.465C>T (p.Thr155=) rs781789218
NM_130849.4(SLC39A4):c.869C>T (p.Pro290Leu) rs142764754
NM_130849.4(SLC39A4):c.92T>A (p.Leu31Gln) rs1822219021

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.