ClinVar Miner

List of variants studied for acrodermatitis enteropathica by Natera, Inc.

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 84
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HGVS dbSNP gnomAD frequency
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.340G>A (p.Ala114Thr) rs17855765 0.43910
NM_130849.4(SLC39A4):c.1069A>G (p.Thr357Ala) rs2272662 0.43646
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.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.504G>A (p.Glu168=) rs138825974 0.00178
NM_130849.4(SLC39A4):c.1659G>C (p.Leu553=) rs143778004 0.00170
NM_130849.4(SLC39A4):c.1704G>A (p.Thr568=) rs115808560 0.00165
NM_130849.4(SLC39A4):c.595T>C (p.Leu199=) rs141199511 0.00155
NM_130849.4(SLC39A4):c.1743C>T (p.Val581=) rs144252108 0.00130
NM_130849.4(SLC39A4):c.1851C>T (p.Pro617=) rs61729885 0.00116
NM_130849.4(SLC39A4):c.66G>A (p.Ala22=) rs142910470 0.00116
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.202G>T (p.Val68Leu) rs190698611 0.00073
NM_130849.4(SLC39A4):c.744C>T (p.Ala248=) rs201676788 0.00040
NM_130849.4(SLC39A4):c.390C>T (p.Leu130=) rs782454483 0.00039
NM_130849.4(SLC39A4):c.1002G>A (p.Thr334=) rs149524471 0.00036
NM_130849.4(SLC39A4):c.324G>A (p.Glu108=) rs149365806 0.00034
NM_130849.4(SLC39A4):c.321C>T (p.Pro107=) rs148918238 0.00031
NM_130849.4(SLC39A4):c.339C>T (p.Asp113=) rs374534193 0.00031
NM_130849.4(SLC39A4):c.1126G>A (p.Ala376Thr) rs200073988 0.00024
NM_130849.4(SLC39A4):c.723C>T (p.His241=) rs574169037 0.00024
NM_130849.4(SLC39A4):c.615C>T (p.Phe205=) rs201681875 0.00023
NM_130849.4(SLC39A4):c.1204C>T (p.Arg402Cys) rs199542349 0.00016
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.591C>T (p.His197=) rs200819089 0.00012
NM_130849.4(SLC39A4):c.1020C>T (p.Cys340=) rs368844801 0.00011
NM_130849.4(SLC39A4):c.294C>T (p.Ala98=) rs376920807 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.297C>T (p.Ala99=) rs369212608 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.646G>A (p.Glu216Lys) rs200524049 0.00009
NM_130849.4(SLC39A4):c.804+9C>T rs200693339 0.00009
NM_130849.4(SLC39A4):c.456C>T (p.Ala152=) rs201684850 0.00008
NM_130849.4(SLC39A4):c.1149+10C>T rs782654111 0.00007
NM_130849.4(SLC39A4):c.210C>T (p.Asp70=) rs782410150 0.00007
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.527C>T (p.Pro176Leu) rs543291496 0.00006
NM_130849.4(SLC39A4):c.558G>C (p.Leu186=) rs199632014 0.00005
NM_130849.4(SLC39A4):c.87G>A (p.Leu29=) rs367624191 0.00005
NM_130849.4(SLC39A4):c.1068C>T (p.Val356=) rs557593730 0.00004
NM_130849.4(SLC39A4):c.150G>A (p.Thr50=) rs541710271 0.00004
NM_130849.4(SLC39A4):c.1903C>T (p.Leu635=) rs199706667 0.00004
NM_130849.4(SLC39A4):c.300C>T (p.Ala100=) rs374813285 0.00004
NM_130849.4(SLC39A4):c.594C>T (p.Ala198=) rs782355343 0.00004
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.225C>T (p.Gly75=) rs376105192 0.00003
NM_130849.4(SLC39A4):c.543C>T (p.Gly181=) rs565516931 0.00003
NM_130849.4(SLC39A4):c.192+7G>A rs925582486 0.00002
NM_130849.4(SLC39A4):c.1149+2T>C rs1255730342 0.00001
NM_130849.4(SLC39A4):c.1203G>A (p.Trp401Ter) rs200482978 0.00001
NM_130849.4(SLC39A4):c.182C>T (p.Pro61Leu) rs537547977 0.00001
NM_130849.4(SLC39A4):c.216G>A (p.Leu72=) rs782722255 0.00001
NM_130849.4(SLC39A4):c.54G>A (p.Val18=) rs200773351 0.00001
NM_130849.4(SLC39A4):c.76G>T (p.Ala26Ser) rs782044154 0.00001
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.1257C>G (p.Leu419=) rs782097184
NM_130849.4(SLC39A4):c.1261A>T (p.Asn421Tyr) rs373681902
NM_130849.4(SLC39A4):c.1391C>A (p.Pro464His) rs1554872599
NM_130849.4(SLC39A4):c.1452T>A (p.Pro484=) rs936284130
NM_130849.4(SLC39A4):c.193-7C>T rs1554873926
NM_130849.4(SLC39A4):c.1937C>T (p.Thr646Ile) rs1038762995
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.92T>A (p.Leu31Gln) rs1822219021

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