ClinVar Miner

List of variants in gene GABBR2 reported as uncertain significance for Tobacco addiction, susceptibility to; Neurodevelopmental disorder with poor language and loss of hand skills; Developmental and epileptic encephalopathy, 59

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_005458.8(GABBR2):c.131G>A (p.Arg44Gln) rs765018232 0.00003
NM_005458.8(GABBR2):c.2412+3A>G rs74429712 0.00001
NM_005458.8(GABBR2):c.121G>T (p.Gly41Cys) rs1588292057

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