ClinVar Miner

List of variants reported as uncertain significance for acrodermatitis enteropathica by Natera, Inc.

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_130849.4(SLC39A4):c.202G>T (p.Val68Leu) rs190698611 0.00073
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.659C>T (p.Thr220Met) rs538740246 0.00016
NM_130849.4(SLC39A4):c.540C>T (p.Gly180=) rs201793280 0.00015
NM_130849.4(SLC39A4):c.1020C>T (p.Cys340=) rs368844801 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+7C>T rs782273130 0.00006
NM_130849.4(SLC39A4):c.527C>T (p.Pro176Leu) rs543291496 0.00006
NM_130849.4(SLC39A4):c.87G>A (p.Leu29=) rs367624191 0.00005
NM_130849.4(SLC39A4):c.1903C>T (p.Leu635=) rs199706667 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.543C>T (p.Gly181=) rs565516931 0.00003
NM_130849.4(SLC39A4):c.192+7G>A rs925582486 0.00002
NM_130849.4(SLC39A4):c.182C>T (p.Pro61Leu) rs537547977 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.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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