ClinVar Miner

List of variants in gene GABRG2 studied for Inborn genetic diseases

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Total variants: 51
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HGVS dbSNP gnomAD frequency
NM_198904.4(GABRG2):c.588C>T (p.Asn196=) rs211037 0.31659
NM_198904.4(GABRG2):c.315C>T (p.Asn105=) rs11135176 0.07676
NM_198904.4(GABRG2):c.354G>A (p.Ala118=) rs61735412 0.01699
NM_198904.4(GABRG2):c.360G>A (p.Thr120=) rs77298346 0.00541
NM_198904.4(GABRG2):c.717A>G (p.Gln239=) rs78261481 0.00489
NM_198904.4(GABRG2):c.798T>C (p.Phe266=) rs115126975 0.00067
NM_198904.4(GABRG2):c.954C>T (p.Leu318=) rs749531013 0.00025
NM_198904.4(GABRG2):c.1320G>A (p.Gly440=) rs150727562 0.00020
NM_198904.4(GABRG2):c.1236C>T (p.Tyr412=) rs749951528 0.00018
NM_198904.4(GABRG2):c.11C>T (p.Pro4Leu) rs375295110 0.00014
NM_198904.4(GABRG2):c.243T>A (p.Leu81=) rs143295869 0.00014
NM_198904.4(GABRG2):c.1207A>G (p.Thr403Ala) rs757868774 0.00011
NM_198904.4(GABRG2):c.1356T>C (p.Tyr452=) rs762386331 0.00009
NM_198904.4(GABRG2):c.36A>T (p.Ser12=) rs762058667 0.00006
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.1189A>G (p.Ile397Val) rs375785093 0.00004
NM_198904.4(GABRG2):c.219G>A (p.Leu73=) rs753076158 0.00004
NM_198904.4(GABRG2):c.52G>C (p.Val18Leu) rs141106898 0.00004
NM_198904.4(GABRG2):c.942A>G (p.Thr314=) rs377502016 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.1413C>T (p.Ser471=) rs765926862 0.00001
NM_198904.4(GABRG2):c.372A>T (p.Arg124Ser) rs754884716 0.00001
NM_198904.4(GABRG2):c.505A>T (p.Met169Leu) rs1369739056 0.00001
NM_198904.4(GABRG2):c.789T>G (p.Ser263=) rs754514348 0.00001
NM_198904.4(GABRG2):c.-4del rs771282908
NM_198904.4(GABRG2):c.-4dup rs771282908
NM_198904.4(GABRG2):c.1027T>C (p.Phe343Leu) rs1554100923
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.1314A>G (p.Arg438=)
NM_198904.4(GABRG2):c.150T>C (p.Ala50=) rs1264403667
NM_198904.4(GABRG2):c.196G>A (p.Val66Ile) rs1760804071
NM_198904.4(GABRG2):c.212_215del (p.Asn71fs)
NM_198904.4(GABRG2):c.244C>T (p.Arg82Trp) rs146470870
NM_198904.4(GABRG2):c.259+1G>A
NM_198904.4(GABRG2):c.316G>A (p.Ala106Thr) rs796052505
NM_198904.4(GABRG2):c.596T>C (p.Met199Thr) rs770506471
NM_198904.4(GABRG2):c.670C>T (p.Arg224Ter) rs1045493304
NM_198904.4(GABRG2):c.808A>G (p.Arg270Gly) rs796052520
NM_198904.4(GABRG2):c.840T>C (p.Tyr280=) rs558779533
NM_198904.4(GABRG2):c.843C>A (p.Ile281=) rs749127891
NM_198904.4(GABRG2):c.853C>G (p.Leu285Val) rs1554100507
NM_198904.4(GABRG2):c.917C>A (p.Ser306Tyr)
NM_198904.4(GABRG2):c.968G>A (p.Arg323Gln) rs397514737

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