ClinVar Miner

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

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Total variants: 3
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HGVS dbSNP
NM_015185.3(ARHGEF9):c.311G>A (p.Arg104Gln) rs1556401714
NM_015185.3(ARHGEF9):c.541G>C (p.Gly181Arg) rs1556389083
NM_015185.3(ARHGEF9):c.561+1G>A rs1569476483

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