ClinVar Miner

List of variants in gene GNB1 reported as uncertain significance for Intellectual disability, autosomal dominant 42

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_002074.5(GNB1):c.520G>A (p.Gly174Ser) rs779612138 0.00003
NM_002074.5(GNB1):c.34G>A (p.Glu12Lys) rs1570674859 0.00001
NM_002074.5(GNB1):c.*1316G>C rs1646396861
NM_002074.5(GNB1):c.1007T>A (p.Leu336His) rs2100450838
NM_002074.5(GNB1):c.145A>G (p.Arg49Gly)
NM_002074.5(GNB1):c.178G>A (p.Ala60Thr) rs1646845570
NM_002074.5(GNB1):c.267+7A>G rs1646696544
NM_002074.5(GNB1):c.280C>T (p.Pro94Ser) rs1646671069
NM_002074.5(GNB1):c.332A>G (p.Tyr111Cys) rs1646670383
NM_002074.5(GNB1):c.431-4668T>C rs2100607979
NM_002074.5(GNB1):c.766C>T (p.Arg256Cys)
NM_002074.5(GNB1):c.833_835del (p.Phe278del)
NM_002074.5(GNB1):c.88C>T (p.Leu30Phe)
NM_002074.5(GNB1):c.955G>C (p.Gly319Arg) rs2522095188

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