ClinVar Miner

List of variants reported for Hereditary acrodermatitis enteropathica by Fulgent Genetics, Fulgent Genetics

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_130849.4(SLC39A4):c.1069A>G (p.Thr357Ala) rs2272662 0.43646
NM_130849.4(SLC39A4):c.948C>T (p.Pro316=) rs60615103 0.00469
NM_130849.4(SLC39A4):c.-10G>A rs372200912 0.00086
NM_130849.4(SLC39A4):c.659C>T (p.Thr220Met) rs538740246 0.00016
NM_130849.4(SLC39A4):c.599C>T (p.Pro200Leu) rs121434287 0.00014
NM_130849.4(SLC39A4):c.297C>T (p.Ala99=) rs369212608 0.00010
NM_130849.4(SLC39A4):c.1299C>T (p.Asp433=) rs528212894 0.00001
NM_130849.4(SLC39A4):c.1465_1474+4del rs782563835
NM_130849.4(SLC39A4):c.475-2A>G rs1554873649
NM_130849.4(SLC39A4):c.862del (p.Gly287_Val288insTer) rs2130799141
NM_130849.4(SLC39A4):c.977-1G>A rs2130798128

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