ClinVar Miner

List of variants in gene GABRG2 studied for Epilepsy, childhood absence 2

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Total variants: 80
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HGVS dbSNP gnomAD frequency
NM_198904.4(GABRG2):c.631+1248A>G rs211035 0.82291
NM_198904.4(GABRG2):c.*661T>A rs424740 0.44730
NM_198904.4(GABRG2):c.*609C>T rs418210 0.32390
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.-154C>T rs3219203 0.05943
NM_198904.4(GABRG2):c.*1497C>T rs11956247 0.01779
NM_198904.4(GABRG2):c.354G>A (p.Ala118=) rs61735412 0.01699
NM_198904.4(GABRG2):c.*1974G>A rs150875037 0.00909
NM_198904.4(GABRG2):c.*794A>G rs73316347 0.00873
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.*343A>G rs41275341 0.00432
NM_198904.4(GABRG2):c.*385G>A rs185169107 0.00360
NM_198904.4(GABRG2):c.*348A>G rs192973258 0.00328
NM_198904.4(GABRG2):c.*261G>A rs148001179 0.00153
NM_198904.4(GABRG2):c.*1636T>C rs551794496 0.00113
NM_198904.4(GABRG2):c.*2095C>G rs138297122 0.00105
NM_198904.4(GABRG2):c.-104T>G rs886060380 0.00066
NM_198904.4(GABRG2):c.*1427C>T rs375013278 0.00037
NM_198904.4(GABRG2):c.*1518A>G rs567153845 0.00035
NM_198904.4(GABRG2):c.*296G>T rs1025917717 0.00035
NM_198904.4(GABRG2):c.*247T>C rs371389067 0.00032
NM_198904.4(GABRG2):c.*422C>T rs752382943 0.00026
NM_198904.4(GABRG2):c.922+6A>G rs375294947 0.00023
NM_198904.4(GABRG2):c.*374A>G rs573126853 0.00021
NM_198904.4(GABRG2):c.*384C>T rs773854777 0.00019
NM_198904.4(GABRG2):c.107+12C>T rs369466385 0.00018
NM_198904.4(GABRG2):c.1236C>T (p.Tyr412=) rs749951528 0.00018
NM_198904.4(GABRG2):c.*1468A>G rs372041761 0.00016
NM_198904.4(GABRG2):c.768C>T (p.Ser256=) rs201672465 0.00015
NM_198904.4(GABRG2):c.243T>A (p.Leu81=) rs143295869 0.00014
NM_000816.3(GABRG2):c.-282C>T rs772816792 0.00013
NM_198904.4(GABRG2):c.135C>T (p.Asp45=) rs375308385 0.00007
NM_198904.4(GABRG2):c.1254C>T (p.Asp418=) rs113085352 0.00006
NM_198904.4(GABRG2):c.41A>G (p.Tyr14Cys) rs61750979 0.00006
NM_198904.4(GABRG2):c.*239C>G rs889255383 0.00005
NM_198904.4(GABRG2):c.*1407T>A rs748908802 0.00004
NM_198904.4(GABRG2):c.*1320G>A rs886060385 0.00003
NM_198904.4(GABRG2):c.-217C>G rs748771306 0.00003
NM_000816.3(GABRG2):c.-250C>T rs886060376 0.00002
NM_198904.4(GABRG2):c.*117A>G rs187224842 0.00002
NM_198904.4(GABRG2):c.24C>A (p.Ser8Arg) rs183259247 0.00002
NM_198904.4(GABRG2):c.759G>A (p.Lys253=) rs202124575 0.00002
NM_000816.3(GABRG2):c.-334C>T rs886060374 0.00001
NM_000816.3(GABRG2):c.-355A>C rs1241101902 0.00001
NM_198904.4(GABRG2):c.*119G>A rs1168516188 0.00001
NM_198904.4(GABRG2):c.*164C>A rs1765522712 0.00001
NM_198904.4(GABRG2):c.*1678A>G rs1196588654 0.00001
NM_198904.4(GABRG2):c.*32T>C rs749257839 0.00001
NM_198904.4(GABRG2):c.*367G>A rs1365753500 0.00001
NM_198904.4(GABRG2):c.*468T>G rs1167572595 0.00001
NM_198904.4(GABRG2):c.*797G>T rs118064447 0.00001
NM_198904.4(GABRG2):c.-114T>C rs886060379 0.00001
NM_198904.4(GABRG2):c.-196C>T rs1478556756 0.00001
NM_198904.4(GABRG2):c.1108G>T (p.Asp370Tyr) rs1415854808 0.00001
NM_198904.4(GABRG2):c.1172G>A (p.Arg391His) rs528036202 0.00001
NM_198904.4(GABRG2):c.1334G>A (p.Arg445His) rs587780341 0.00001
NM_198904.4(GABRG2):c.1389G>A (p.Leu463=) rs765904792 0.00001
NM_198904.4(GABRG2):c.372A>T (p.Arg124Ser) rs754884716 0.00001
NM_198904.4(GABRG2):c.530G>A (p.Arg177Gln) rs1445637165 0.00001
NM_198904.4(GABRG2):c.769+10A>G rs765703079 0.00001
NM_000816.3(GABRG2):c.-241A>C rs886060377
NM_000816.3(GABRG2):c.-268C>A rs886060375
NM_198904.4(GABRG2):c.*1392A>T rs886060386
NM_198904.4(GABRG2):c.*1763A>T rs886060387
NM_198904.4(GABRG2):c.*1838T>A rs1039081493
NM_198904.4(GABRG2):c.*1889C>A rs886060388
NM_198904.4(GABRG2):c.*194G>A rs758832535
NM_198904.4(GABRG2):c.*1981G>C rs886060389
NM_198904.4(GABRG2):c.*250A>C rs886060384
NM_198904.4(GABRG2):c.*441T>C rs188825588
NM_198904.4(GABRG2):c.-179T>A rs886060378
NM_198904.4(GABRG2):c.1425G>A (p.Leu475=) rs886060383
NM_198904.4(GABRG2):c.1A>G (p.Met1Val) rs1581275976
NM_198904.4(GABRG2):c.245G>A (p.Arg82Gln) rs121909673
NM_198904.4(GABRG2):c.303T>C (p.Ile101=) rs1760937526
NM_198904.4(GABRG2):c.402C>G (p.Val134=) rs562384157
NM_198904.4(GABRG2):c.428G>A (p.Gly143Glu) rs747372679
NM_198904.4(GABRG2):c.769+2T>G rs1561645243

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