ClinVar Miner

List of variants in gene GABRB2 reported as likely benign for Intellectual disability

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 180
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001371727.1(GABRB2):c.747A>T (p.Thr249=) rs145570974 0.00103
NM_001371727.1(GABRB2):c.1349G>A (p.Ser450Asn) rs61735410 0.00038
NM_001371727.1(GABRB2):c.609G>A (p.Thr203=) rs138163747 0.00026
NM_001371727.1(GABRB2):c.573C>T (p.Tyr191=) rs199576643 0.00020
NM_001371727.1(GABRB2):c.1060C>T (p.Arg354Cys) rs41298406 0.00014
NM_001371727.1(GABRB2):c.1479A>T (p.Ile493=) rs750111998 0.00011
NM_001371727.1(GABRB2):c.462C>T (p.Ile154=) rs148320584 0.00011
NM_001371727.1(GABRB2):c.1373G>A (p.Arg458Gln) rs80241240 0.00008
NM_001371727.1(GABRB2):c.237+12C>T rs371694224 0.00007
NM_001371727.1(GABRB2):c.372C>T (p.Asn124=) rs138299514 0.00007
NM_001371727.1(GABRB2):c.594A>G (p.Ala198=) rs761307384 0.00007
NM_001371727.1(GABRB2):c.1334G>A (p.Gly445Glu) rs781071477 0.00006
NM_001371727.1(GABRB2):c.285G>A (p.Arg95=) rs144053366 0.00006
NM_001371727.1(GABRB2):c.624A>G (p.Pro208=) rs1174338619 0.00006
NM_001371727.1(GABRB2):c.1014A>G (p.Gln338=) rs747854210 0.00005
NM_001371727.1(GABRB2):c.1063C>T (p.Leu355=) rs764159075 0.00005
NM_001371727.1(GABRB2):c.1192-12C>A rs375758935 0.00005
NM_001371727.1(GABRB2):c.1192-18G>T rs376744140 0.00005
NM_001371727.1(GABRB2):c.1009C>T (p.Arg337Cys) rs777778428 0.00004
NM_001371727.1(GABRB2):c.1174G>A (p.Asp392Asn) rs150956270 0.00004
NM_001371727.1(GABRB2):c.1377T>C (p.His459=) rs201342925 0.00004
NM_001371727.1(GABRB2):c.1383G>A (p.Ala461=) rs536960677 0.00004
NM_001371727.1(GABRB2):c.1530T>C (p.Tyr510=) rs200872771 0.00004
NM_001371727.1(GABRB2):c.357T>C (p.Asp119=) rs756503577 0.00004
NM_001371727.1(GABRB2):c.78-19T>C rs202028432 0.00004
NM_001371727.1(GABRB2):c.1143C>T (p.Asn381=) rs908738518 0.00003
NM_001371727.1(GABRB2):c.1410C>T (p.Arg470=) rs373821165 0.00003
NM_001371727.1(GABRB2):c.393C>T (p.His131=) rs755211861 0.00003
NM_001371727.1(GABRB2):c.441C>T (p.Thr147=) rs370578958 0.00003
NM_001371727.1(GABRB2):c.789C>A (p.Ser263=) rs755694724 0.00003
NM_001371727.1(GABRB2):c.1434C>T (p.Ile478=) rs754964208 0.00002
NM_001371727.1(GABRB2):c.1518T>C (p.Tyr506=) rs753233146 0.00002
NM_001371727.1(GABRB2):c.172C>G (p.Pro58Ala) rs769551029 0.00002
NM_001371727.1(GABRB2):c.238-18T>C rs1485793918 0.00002
NM_001371727.1(GABRB2):c.459-15C>T rs759328020 0.00002
NM_001371727.1(GABRB2):c.60C>T (p.Ala20=) rs763231952 0.00002
NM_001371727.1(GABRB2):c.720A>G (p.Arg240=) rs756982726 0.00002
NM_001371727.1(GABRB2):c.1017G>A (p.Lys339=) rs1289875232 0.00001
NM_001371727.1(GABRB2):c.1078-9G>A rs538734649 0.00001
NM_001371727.1(GABRB2):c.1169A>G (p.Asn390Ser) rs201129022 0.00001
NM_001371727.1(GABRB2):c.1173C>T (p.Tyr391=) rs753777522 0.00001
NM_001371727.1(GABRB2):c.1192-6T>G rs759226981 0.00001
NM_001371727.1(GABRB2):c.1200C>G (p.Pro400=) rs770453629 0.00001
NM_001371727.1(GABRB2):c.1203T>C (p.His401=) rs762487283 0.00001
NM_001371727.1(GABRB2):c.1320G>A (p.Gln440=) rs1184212049 0.00001
NM_001371727.1(GABRB2):c.1324C>T (p.Arg442Trp) rs1407862838 0.00001
NM_001371727.1(GABRB2):c.1325G>A (p.Arg442Gln) rs779091017 0.00001
NM_001371727.1(GABRB2):c.1397G>A (p.Arg466His) rs772293871 0.00001
NM_001371727.1(GABRB2):c.1401G>A (p.Leu467=) rs746150630 0.00001
NM_001371727.1(GABRB2):c.1419A>G (p.Gln473=) rs749301985 0.00001
NM_001371727.1(GABRB2):c.1509C>T (p.Asn503=) rs756795443 0.00001
NM_001371727.1(GABRB2):c.170-4G>T rs545803508 0.00001
NM_001371727.1(GABRB2):c.180G>T (p.Val60=) rs1208230748 0.00001
NM_001371727.1(GABRB2):c.237+18T>C rs749857323 0.00001
NM_001371727.1(GABRB2):c.282G>A (p.Lys94=) rs771570156 0.00001
NM_001371727.1(GABRB2):c.288G>A (p.Leu96=) rs1345898045 0.00001
NM_001371727.1(GABRB2):c.458+9T>C rs1414682600 0.00001
NM_001371727.1(GABRB2):c.45C>T (p.Phe15=) rs759095506 0.00001
NM_001371727.1(GABRB2):c.513A>G (p.Glu171=) rs370168508 0.00001
NM_001371727.1(GABRB2):c.541+7C>G rs373480281 0.00001
NM_001371727.1(GABRB2):c.542-16A>G rs1554094288 0.00001
NM_001371727.1(GABRB2):c.542-19T>C rs913562341 0.00001
NM_001371727.1(GABRB2):c.582C>A (p.Gly194=) rs750096691 0.00001
NM_001371727.1(GABRB2):c.615T>C (p.Ile205=) rs1400169299 0.00001
NM_001371727.1(GABRB2):c.679+7A>T rs1285127035 0.00001
NM_001371727.1(GABRB2):c.69T>C (p.Cys23=) rs1486789918 0.00001
NM_001371727.1(GABRB2):c.804C>T (p.Tyr268=) rs370057910 0.00001
NM_001371727.1(GABRB2):c.813A>T (p.Ser271=) rs367813708 0.00001
NM_001371727.1(GABRB2):c.832+3A>G rs77398862 0.00001
NM_001371727.1(GABRB2):c.89C>T (p.Pro30Leu) rs749288718 0.00001
NM_001371727.1(GABRB2):c.936C>T (p.Cys312=) rs181644032 0.00001
NM_001371727.1(GABRB2):c.996G>A (p.Gly332=) rs762087070 0.00001
NC_000005.9:g.(?_160721068)_(160763796_?)dup
NM_001371727.1(GABRB2):c.102G>A (p.Ser34=) rs2113490210
NM_001371727.1(GABRB2):c.103C>T (p.Leu35=) rs1581075337
NM_001371727.1(GABRB2):c.1056G>A (p.Lys352=) rs2113397440
NM_001371727.1(GABRB2):c.1065G>A (p.Leu355=)
NM_001371727.1(GABRB2):c.1066G>A (p.Asp356Asn) rs1753818114
NM_001371727.1(GABRB2):c.1077+12G>A
NM_001371727.1(GABRB2):c.1077+14G>A
NM_001371727.1(GABRB2):c.1080T>A (p.Ile360=)
NM_001371727.1(GABRB2):c.1117C>A (p.Arg373=) rs745319567
NM_001371727.1(GABRB2):c.1146C>T (p.Leu382=) rs1266441926
NM_001371727.1(GABRB2):c.1155T>C (p.Thr385=) rs1273490114
NM_001371727.1(GABRB2):c.117G>A (p.Thr39=) rs866058026
NM_001371727.1(GABRB2):c.117G>C (p.Thr39=)
NM_001371727.1(GABRB2):c.1191+12A>T
NM_001371727.1(GABRB2):c.1191+13G>A
NM_001371727.1(GABRB2):c.1192-7C>G
NM_001371727.1(GABRB2):c.1192-7C>T rs2113334075
NM_001371727.1(GABRB2):c.1197C>T (p.Asp399=)
NM_001371727.1(GABRB2):c.1210A>G (p.Ile404Val)
NM_001371727.1(GABRB2):c.1257G>A (p.Glu419=)
NM_001371727.1(GABRB2):c.1260T>G (p.Ala420=) rs778879790
NM_001371727.1(GABRB2):c.1290A>C (p.Thr430=)
NM_001371727.1(GABRB2):c.1296A>G (p.Leu432=) rs2113333752
NM_001371727.1(GABRB2):c.1301A>T (p.Tyr434Phe)
NM_001371727.1(GABRB2):c.1310C>G (p.Ser437Cys) rs772398405
NM_001371727.1(GABRB2):c.1310C>T (p.Ser437Phe) rs772398405
NM_001371727.1(GABRB2):c.1317C>T (p.Ile439=)
NM_001371727.1(GABRB2):c.1338G>A (p.Leu446=) rs1757319355
NM_001371727.1(GABRB2):c.1357C>A (p.Arg453=) rs1461566727
NM_001371727.1(GABRB2):c.1374A>G (p.Arg458=) rs764850270
NM_001371727.1(GABRB2):c.1380G>A (p.Val460=)
NM_001371727.1(GABRB2):c.1398C>T (p.Arg466=) rs2113333407
NM_001371727.1(GABRB2):c.1399C>T (p.Leu467=) rs2113333399
NM_001371727.1(GABRB2):c.13C>A (p.Arg5=)
NM_001371727.1(GABRB2):c.1413C>T (p.Ala471=) rs1757314735
NM_001371727.1(GABRB2):c.1512C>T (p.Ile504=)
NM_001371727.1(GABRB2):c.170-14G>A
NM_001371727.1(GABRB2):c.170-14G>T
NM_001371727.1(GABRB2):c.170-9G>T rs1581074359
NM_001371727.1(GABRB2):c.177C>G (p.Pro59=) rs996258829
NM_001371727.1(GABRB2):c.195C>T (p.Asn65=) rs1760943725
NM_001371727.1(GABRB2):c.201C>T (p.Asp67=)
NM_001371727.1(GABRB2):c.204T>C (p.Ile68=) rs2113486725
NM_001371727.1(GABRB2):c.207C>T (p.Ala69=)
NM_001371727.1(GABRB2):c.213C>A (p.Ile71=) rs1351188868
NM_001371727.1(GABRB2):c.213C>T (p.Ile71=)
NM_001371727.1(GABRB2):c.237+13A>G
NM_001371727.1(GABRB2):c.237+7A>G
NM_001371727.1(GABRB2):c.238-14T>C
NM_001371727.1(GABRB2):c.238-19T>G
NM_001371727.1(GABRB2):c.238-9C>T rs76657179
NM_001371727.1(GABRB2):c.245C>A (p.Thr82Asn) rs1561658011
NM_001371727.1(GABRB2):c.366C>T (p.Phe122=)
NM_001371727.1(GABRB2):c.378G>A (p.Lys126=)
NM_001371727.1(GABRB2):c.381G>A (p.Lys127=)
NM_001371727.1(GABRB2):c.399G>A (p.Val133=) rs974021905
NM_001371727.1(GABRB2):c.417G>A (p.Met139Ile) rs78354289
NM_001371727.1(GABRB2):c.435T>C (p.Asp145=) rs776727409
NM_001371727.1(GABRB2):c.441C>A (p.Thr147=)
NM_001371727.1(GABRB2):c.442G>A (p.Val148Ile) rs1581004188
NM_001371727.1(GABRB2):c.444C>T (p.Val148=) rs771899561
NM_001371727.1(GABRB2):c.458+20A>G
NM_001371727.1(GABRB2):c.458+5G>A rs1758060204
NM_001371727.1(GABRB2):c.459-13A>G
NM_001371727.1(GABRB2):c.468C>G (p.Thr156=)
NM_001371727.1(GABRB2):c.48C>T (p.Pro16=) rs1265831842
NM_001371727.1(GABRB2):c.490C>T (p.Leu164=)
NM_001371727.1(GABRB2):c.51AAT[1] (p.Ile19del) rs761010140
NM_001371727.1(GABRB2):c.522C>T (p.Cys174=)
NM_001371727.1(GABRB2):c.541+7C>T
NM_001371727.1(GABRB2):c.541+8G>A
NM_001371727.1(GABRB2):c.542-32GT[6] rs141330383
NM_001371727.1(GABRB2):c.542-32GT[9] rs141330383
NM_001371727.1(GABRB2):c.56T>C (p.Ile19Thr) rs2113490797
NM_001371727.1(GABRB2):c.578G>A (p.Arg193His) rs373324958
NM_001371727.1(GABRB2):c.582C>T (p.Gly194=) rs750096691
NM_001371727.1(GABRB2):c.624A>T (p.Pro208=)
NM_001371727.1(GABRB2):c.632C>T (p.Ser211Phe) rs2113408152
NM_001371727.1(GABRB2):c.639A>G (p.Val213=)
NM_001371727.1(GABRB2):c.679+7A>G rs1285127035
NM_001371727.1(GABRB2):c.680-16A>C rs1245747762
NM_001371727.1(GABRB2):c.680-20T>G
NM_001371727.1(GABRB2):c.680-2A>G rs1561612125
NM_001371727.1(GABRB2):c.72G>A (p.Ala24=) rs776799573
NM_001371727.1(GABRB2):c.72G>T (p.Ala24=) rs776799573
NM_001371727.1(GABRB2):c.75G>A (p.Gln25=) rs2113490694
NM_001371727.1(GABRB2):c.766A>G (p.Ile256Val)
NM_001371727.1(GABRB2):c.77+17T>C
NM_001371727.1(GABRB2):c.78-15C>A
NM_001371727.1(GABRB2):c.78-20A>G
NM_001371727.1(GABRB2):c.780C>A (p.Ser260=) rs1160036447
NM_001371727.1(GABRB2):c.780C>G (p.Ser260=) rs1160036447
NM_001371727.1(GABRB2):c.813A>C (p.Ser271=)
NM_001371727.1(GABRB2):c.828A>G (p.Ala276=)
NM_001371727.1(GABRB2):c.832+16A>T rs1252746615
NM_001371727.1(GABRB2):c.832+9T>C rs1057522438
NM_001371727.1(GABRB2):c.833-11T>A rs1753825686
NM_001371727.1(GABRB2):c.833-14C>G rs2113397954
NM_001371727.1(GABRB2):c.833-14C>T rs2113397954
NM_001371727.1(GABRB2):c.842C>G (p.Thr281Ser) rs1753825061
NM_001371727.1(GABRB2):c.854T>C (p.Met285Thr)
NM_001371727.1(GABRB2):c.876C>T (p.Leu292=)
NM_001371727.1(GABRB2):c.881A>G (p.Glu294Gly) rs1014039541
NM_001371727.1(GABRB2):c.903T>C (p.Tyr301=)
NM_001371727.1(GABRB2):c.909G>A (p.Lys303=) rs886039375
NM_001371727.1(GABRB2):c.933G>T (p.Gly311=) rs1276507834
NM_001371727.1(GABRB2):c.961C>T (p.Leu321=)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.