ClinVar Miner

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

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Total variants: 7
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HGVS dbSNP
NM_198903.2(GABRG2):c.1145del (p.Cys382fs) rs1060501889
NM_198903.2(GABRG2):c.1181G>T (p.Gly394Val) rs1060501888
NM_198903.2(GABRG2):c.1273-2A>G rs1554101185
NM_198903.2(GABRG2):c.245G>A (p.Arg82Gln) rs121909673
NM_198903.2(GABRG2):c.269C>T (p.Thr90Met) rs1057520498
NM_198903.2(GABRG2):c.501C>A (p.Asn167Lys)
Single allele

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