ClinVar Miner

List of variants reported as likely pathogenic for Early infantile epileptic encephalopathy 8

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Total variants: 8
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NM_001353921.2(ARHGEF9):c.331C>T (p.Arg111Trp)
NM_001353921.2(ARHGEF9):c.332G>A (p.Arg111Gln) rs1556401714
NM_001353921.2(ARHGEF9):c.375C>A (p.Tyr125Ter)
NM_001353921.2(ARHGEF9):c.556G>A (p.Glu186Lys) rs1602446549
NM_001353921.2(ARHGEF9):c.562G>C (p.Gly188Arg) rs1556389083

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