ClinVar Miner

List of variants in gene GABRB3 reported as likely benign by GeneDx

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Gene type:
ClinVar version:
Total variants: 59
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HGVS dbSNP gnomAD frequency
NM_000814.6(GABRB3):c.240+55619C>G rs544207581 0.01251
NM_000814.6(GABRB3):c.241-7247G>A rs117486957 0.01017
NC_000015.10:g.26774068C>T rs192050364 0.00832
NM_000814.6(GABRB3):c.241-56G>A rs150390129 0.00574
NM_000814.6(GABRB3):c.1080+306G>A rs547053788 0.00151
NM_000814.6(GABRB3):c.835+8C>T rs75812437 0.00031
NM_021912.5(GABRB3):c.80+19G>A rs536031008 0.00029
NM_021912.5(GABRB3):c.80+18C>T rs376837906 0.00024
NM_021912.5(GABRB3):c.44C>T (p.Ser15Phe) rs121913126 0.00016
NM_000814.6(GABRB3):c.585C>T (p.Gly195=) rs781294125 0.00015
NM_000814.6(GABRB3):c.675C>T (p.Phe225=) rs201004195 0.00012
NM_000814.6(GABRB3):c.683-7C>A rs759453899 0.00011
NM_000814.6(GABRB3):c.1081-10G>A rs200137318 0.00010
NM_000814.6(GABRB3):c.1113G>A (p.Ser371=) rs139370891 0.00010
NM_000814.6(GABRB3):c.-23C>G rs889516195 0.00007
NM_000814.6(GABRB3):c.1110A>G (p.Thr370=) rs200523834 0.00006
NM_000814.6(GABRB3):c.357C>T (p.Pro119=) rs370237352 0.00006
NM_000814.6(GABRB3):c.39C>T (p.Phe13=) rs761422251 0.00006
NM_000814.6(GABRB3):c.1338T>C (p.Asn446=) rs370026053 0.00005
NM_000814.6(GABRB3):c.1204T>C (p.Tyr402His) rs185383468 0.00004
NM_000814.6(GABRB3):c.1265C>T (p.Pro422Leu) rs369631109 0.00003
NM_000814.6(GABRB3):c.1342A>G (p.Ile448Val) rs377215030 0.00003
NM_000814.6(GABRB3):c.321G>A (p.Thr107=) rs367761610 0.00003
NM_000814.6(GABRB3):c.321G>T (p.Thr107=) rs367761610 0.00003
NM_000814.6(GABRB3):c.836-20C>T rs369364757 0.00003
NM_000814.6(GABRB3):c.1150G>A (p.Gly384Ser) rs757233280 0.00002
NM_000814.6(GABRB3):c.1266G>A (p.Pro422=) rs377621777 0.00002
NM_000814.6(GABRB3):c.173-13G>C rs371144939 0.00002
NM_000814.6(GABRB3):c.648C>T (p.His216=) rs144001770 0.00002
NM_000814.6(GABRB3):c.753T>C (p.Tyr251=) rs150534186 0.00002
NM_000814.6(GABRB3):c.80+4G>C rs542737772 0.00002
NM_000814.6(GABRB3):c.81-3C>T rs746996582 0.00002
NM_021912.5(GABRB3):c.80+10G>A rs763316211 0.00002
NM_000814.6(GABRB3):c.1079G>A (p.Arg360Gln) rs778442239 0.00001
NM_000814.6(GABRB3):c.1104G>C (p.Leu368=) rs777145235 0.00001
NM_000814.6(GABRB3):c.1127A>G (p.Asn376Ser) rs756866953 0.00001
NM_000814.6(GABRB3):c.1241G>A (p.Arg414Gln) rs373229638 0.00001
NM_000814.6(GABRB3):c.1286G>A (p.Arg429Gln) rs777882335 0.00001
NM_000814.6(GABRB3):c.183C>G (p.Val61=) rs778097525 0.00001
NM_000814.6(GABRB3):c.329A>G (p.Asn110Ser) rs751329477 0.00001
NM_000814.6(GABRB3):c.81-11C>T rs759375301 0.00001
NM_000814.6(GABRB3):c.81T>C (p.Ser27=) rs1057523553 0.00001
NM_000814.6(GABRB3):c.-99GGC[5] rs548775630
NM_000814.6(GABRB3):c.1005C>G (p.Gly335=) rs74907974
NM_000814.6(GABRB3):c.1081-31_1081-28del rs145002502
NM_000814.6(GABRB3):c.154C>T (p.Leu52=) rs1057524415
NM_000814.6(GABRB3):c.240+55573T>C rs1356450885
NM_000814.6(GABRB3):c.240+55620A>G rs201598082
NM_000814.6(GABRB3):c.240+55863C>T rs140316880
NM_000814.6(GABRB3):c.241-7147dup rs71420014
NM_000814.6(GABRB3):c.241-7164GTTTTTTT[2] rs973221364
NM_000814.6(GABRB3):c.300T>C (p.Ser100=) rs975508044
NM_000814.6(GABRB3):c.461+147_461+148dup rs5811434
NM_000814.6(GABRB3):c.544+161_544+162del rs576671500
NM_000814.6(GABRB3):c.544+88A>G rs138477884
NM_000814.6(GABRB3):c.81-4C>T rs1223039173
NM_021912.4(GABRB3):c.-42G>C rs1057522017
NM_021912.4(GABRB3):c.-44G>C rs372201190
NM_021912.4(GABRB3):c.-44G>T rs372201190

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