ClinVar Miner

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

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Total variants: 11
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HGVS dbSNP
NM_020988.3(GNAO1):c.118G>A (p.Gly40Arg) rs886041715
NM_020988.3(GNAO1):c.143C>A (p.Thr48Asn) rs1555499800
NM_020988.3(GNAO1):c.143C>T (p.Thr48Ile) rs1555499800
NM_020988.3(GNAO1):c.451G>A (p.Asp151Asn) rs1596867702
NM_020988.3(GNAO1):c.509C>G (p.Pro170Arg)
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)
NM_020988.3(GNAO1):c.692A>G (p.Tyr231Cys) rs1057518678
NM_020988.3(GNAO1):c.731T>A (p.Met244Lys)
NM_020988.3(GNAO1):c.973T>G (p.Cys325Gly)

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