ClinVar Miner

List of variants reported as likely pathogenic for Epileptic encephalopathy, early infantile, 1

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Total variants: 15
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HGVS dbSNP
NM_004974.4(KCNA2):c.890G>A (p.Arg297Gln) rs786205232
NM_004974.4(KCNA2):c.906T>G (p.Phe302Leu)
NM_006920.6(SCN1A):c.2010+10G>C rs1574214734
NM_016373.4(WWOX):c.136C>T (p.His46Tyr) rs1597207871
NM_016373.4(WWOX):c.173-6T>G rs200812468
NM_020988.3(GNAO1):c.119G>T (p.Gly40Val) rs886041766
NM_139058.3(ARX):c.1039T>G (p.Phe347Val) rs1556054888
NM_139058.3(ARX):c.1105G>A (p.Glu369Lys) rs104894746
NM_139058.3(ARX):c.1444G>A (p.Gly482Ser) rs1468724042
NM_139058.3(ARX):c.1593_1620del (p.Ser531fs) rs1601945599
NM_139058.3(ARX):c.1607G>C (p.Arg536Thr)
NM_139058.3(ARX):c.84C>A (p.Cys28Ter) rs932485786
NM_139058.3(ARX):c.989G>A (p.Arg330His) rs886039308
NM_172107.4(KCNQ2):c.787A>G (p.Thr263Ala)
NM_203446.2(SYNJ1):c.1717C>T (p.Arg573Ter) rs1569075471

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