ClinVar Miner

List of variants in gene GABRG2 reported as likely pathogenic by GeneDx

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Total variants: 10
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HGVS dbSNP
NM_198903.2(GABRG2):c.1005G>A (p.Trp335Ter) rs1554100509
NM_198903.2(GABRG2):c.1120G>A (p.Ala374Thr) rs398123523
NM_198903.2(GABRG2):c.1149C>A (p.Phe383Leu) rs796052511
NM_198903.2(GABRG2):c.1337_1338del (p.Gln446fs) rs1554101202
NM_198903.2(GABRG2):c.220C>G (p.Leu74Val) rs796052503
NM_198903.2(GABRG2):c.471del (p.Ala158fs) rs1554097890
NM_198903.2(GABRG2):c.540C>A (p.Tyr180Ter) rs1057520476
NM_198903.2(GABRG2):c.790C>T (p.Arg264Ter) rs1045493304
NM_198903.2(GABRG2):c.942C>A (p.Tyr314Ter) rs1064794724
NM_198903.2(GABRG2):c.942C>G (p.Tyr314Ter) rs1064794724

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