ClinVar Miner

List of variants studied for Developmental and epileptic encephalopathy, 50 by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_004341.5(CAD):c.5392C>A (p.Gln1798Lys) rs138840581 0.00064
NM_004341.5(CAD):c.5429G>A (p.Arg1810Gln) rs139332887 0.00028
NM_004341.5(CAD):c.5104C>T (p.Pro1702Ser) rs529298259 0.00006
NM_004341.5(CAD):c.1352A>G (p.Tyr451Cys) rs770953907 0.00001
NM_004341.5(CAD):c.4231A>G (p.Lys1411Glu) rs2465341703
NM_004341.5(CAD):c.6020T>C (p.Leu2007Pro) rs1676344855
NM_004341.5(CAD):c.6055G>A (p.Asp2019Asn) rs745685364
NM_004341.5(CAD):c.933_934del (p.Phe312fs) rs2465293335

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