ClinVar Miner

List of variants reported as likely pathogenic for Epileptic encephalopathy, early infantile, 32

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Total variants: 13
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HGVS dbSNP
NM_004974.4(KCNA2):c.1013G>A (p.Gly338Glu) rs1553181301
NM_004974.4(KCNA2):c.1118C>T (p.Thr373Ile) rs1553181282
NM_004974.4(KCNA2):c.1195G>A (p.Val399Met) rs1064794738
NM_004974.4(KCNA2):c.1210T>A (p.Leu404Ile)
NM_004974.4(KCNA2):c.1219C>G (p.Pro407Ala) rs1557731896
NM_004974.4(KCNA2):c.1220C>G (p.Pro407Arg)
NM_004974.4(KCNA2):c.1223T>G (p.Val408Gly)
NM_004974.4(KCNA2):c.1265_1266del (p.Glu422fs) rs1064796294
NM_004974.4(KCNA2):c.298C>T (p.Arg100Ter)
NM_004974.4(KCNA2):c.788T>C (p.Ile263Thr) rs786205231
NM_004974.4(KCNA2):c.900A>T (p.Arg300Ser)
NM_004974.4(KCNA2):c.929A>G (p.His310Arg)
NM_004974.4(KCNA2):c.959C>T (p.Thr320Ile) rs1553181323

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