ClinVar Miner

List of variants in gene GNAO1 reported as uncertain significance for Developmental and epileptic encephalopathy, 17; Neurodevelopmental disorder with involuntary movements

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_020988.3(GNAO1):c.723+9C>T rs371451695 0.00003
NM_020988.3(GNAO1):c.397G>A (p.Gly133Ser) rs374115337 0.00001
NM_020988.3(GNAO1):c.253G>A (p.Val85Ile)
NM_020988.3(GNAO1):c.303+4852A>G rs2143533711
NM_020988.3(GNAO1):c.304-19275T>C rs1475730892
NM_020988.3(GNAO1):c.448A>C (p.Asn150His) rs2037660713
NM_020988.3(GNAO1):c.479T>C (p.Leu160Pro) rs2143660444
NM_020988.3(GNAO1):c.856A>T (p.Ile286Phe) rs1386785579
NM_020988.3(GNAO1):c.973T>G (p.Cys325Gly) rs2037954227

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