ClinVar Miner

List of variants reported as likely benign for Hereditary acrodermatitis enteropathica by Natera, Inc.

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Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_130849.4(SLC39A4):c.504G>A (p.Glu168=) rs138825974 0.00178
NM_130849.4(SLC39A4):c.1704G>A (p.Thr568=) rs115808560 0.00165
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.744C>T (p.Ala248=) rs201676788 0.00040
NM_130849.4(SLC39A4):c.1002G>A (p.Thr334=) rs149524471 0.00036
NM_130849.4(SLC39A4):c.321C>T (p.Pro107=) rs148918238 0.00031
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.591C>T (p.His197=) rs200819089 0.00012
NM_130849.4(SLC39A4):c.294C>T (p.Ala98=) rs376920807 0.00011
NM_130849.4(SLC39A4):c.297C>T (p.Ala99=) rs369212608 0.00010
NM_130849.4(SLC39A4):c.1149+9C>T rs139192292 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.1323T>C (p.His441=) rs143819461 0.00006
NM_130849.4(SLC39A4):c.558G>C (p.Leu186=) rs199632014 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.300C>T (p.Ala100=) rs374813285 0.00004
NM_130849.4(SLC39A4):c.594C>T (p.Ala198=) rs782355343 0.00004
NM_130849.4(SLC39A4):c.216G>A (p.Leu72=) rs782722255 0.00001
NM_130849.4(SLC39A4):c.1261A>T (p.Asn421Tyr) rs373681902

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