ClinVar Miner

List of variants studied for Developmental and epileptic encephalopathy, 1 by Institute of Human Genetics, University of Leipzig Medical Center

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_139058.3(ARX):c.1058C>T (p.Pro353Leu) rs104894743
NM_139058.3(ARX):c.1105G>A (p.Glu369Lys) rs104894746
NM_139058.3(ARX):c.1128C>G (p.Phe376Leu) rs2048683301
NM_139058.3(ARX):c.1522G>A (p.Val508Met) rs2048670414
NM_139058.3(ARX):c.1546G>T (p.Ala516Ser) rs747042039
NM_139058.3(ARX):c.1684T>C (p.Cys562Arg) rs2048668859
NM_139058.3(ARX):c.370G>T (p.Glu124Ter) rs2147324296
NM_139058.3(ARX):c.451_465del (p.Ala151_Ala155del) rs757588621
NM_139058.3(ARX):c.946G>A (p.Gly316Ser) rs2048708756
NM_139058.3(ARX):c.989G>A (p.Arg330His) rs886039308

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