ClinVar Miner

List of variants in gene GABRG2 reported as uncertain significance for Inborn genetic diseases

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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_198904.4(GABRG2):c.1207A>G (p.Thr403Ala) rs757868774 0.00011
NM_198904.4(GABRG2):c.41A>G (p.Tyr14Cys) rs61750979 0.00006
NM_198904.4(GABRG2):c.1087C>T (p.Arg363Trp) rs374512652 0.00004
NM_198904.4(GABRG2):c.1108G>T (p.Asp370Tyr) rs1415854808 0.00001
NM_198904.4(GABRG2):c.1111A>G (p.Lys371Glu) rs1164039510 0.00001
NM_198904.4(GABRG2):c.1195A>G (p.Met399Val) rs753097258 0.00001
NM_198904.4(GABRG2):c.1334G>A (p.Arg445His) rs587780341 0.00001
NM_198904.4(GABRG2):c.505A>T (p.Met169Leu) rs1369739056 0.00001
NM_198904.4(GABRG2):c.1113_1115del (p.Lys374del) rs727503941
NM_198904.4(GABRG2):c.1140G>A (p.Met380Ile) rs1554101092
NM_198904.4(GABRG2):c.1186A>G (p.Thr396Ala)
NM_198904.4(GABRG2):c.1204G>A (p.Ala402Thr)
NM_198904.4(GABRG2):c.1295G>T (p.Cys432Phe)
NM_198904.4(GABRG2):c.196G>A (p.Val66Ile) rs1760804071
NM_198904.4(GABRG2):c.596T>C (p.Met199Thr) rs770506471
NM_198904.4(GABRG2):c.853C>G (p.Leu285Val) rs1554100507

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