ClinVar Miner

List of variants reported as likely pathogenic for Early infantile epileptic encephalopathy 17

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Total variants: 6
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HGVS dbSNP
NC_000016.10:g.56192353G>A
NM_020988.3(GNAO1):c.143C>T (p.Thr48Ile) rs1555499800
NM_020988.3(GNAO1):c.626G>T (p.Arg209Leu) rs797044878
NM_020988.3(GNAO1):c.662C>A (p.Ala221Asp) rs1555507479
NM_020988.3(GNAO1):c.680C>T (p.Ala227Val) rs797045599
NM_020988.3(GNAO1):c.692A>G (p.Tyr231Cys) rs1057518678

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