ClinVar Miner

List of variants in gene GABRB3 reported as benign by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 45
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000814.6(GABRB3):c.682+287T>C rs6576582 0.97889
NC_000015.10:g.26773893C>A rs4906901 0.88747
NM_000814.6(GABRB3):c.241-7714A>G rs12148310 0.61360
NM_000814.6(GABRB3):c.683-257G>A rs7167688 0.49927
NM_000814.6(GABRB3):c.461+195_461+196insT rs112294385 0.36257
NM_000814.6(GABRB3):c.241-57G>A rs45542840 0.36242
NM_000814.6(GABRB3):c.1080+15A>G rs3751582 0.34839
NM_000814.6(GABRB3):c.241-7176T>C rs61998699 0.30410
NM_000814.6(GABRB3):c.240+55623T>G rs5016886 0.25009
NM_000814.6(GABRB3):c.240+296C>A rs45486192 0.15565
NM_000814.6(GABRB3):c.241-7844G>A rs74004622 0.15236
NM_021912.5(GABRB3):c.75C>T (p.Pro25=) rs20318 0.14900
NM_000814.6(GABRB3):c.462-90C>T rs72702138 0.14135
NM_000814.6(GABRB3):c.240+13C>T rs8179186 0.12842
NM_000814.6(GABRB3):c.545-90G>A rs28477625 0.06831
NM_000814.6(GABRB3):c.836-70A>G rs3751583 0.05641
NM_000814.6(GABRB3):c.240+55591T>A rs1410821941 0.04142
NM_000814.6(GABRB3):c.240+55526G>C rs866574473 0.03306
NM_000814.6(GABRB3):c.835+153C>T rs13379559 0.02765
NM_000814.6(GABRB3):c.835+194C>T rs13379558 0.02763
NM_000814.6(GABRB3):c.682+102C>T rs6576583 0.02451
NM_000814.6(GABRB3):c.783G>A (p.Ser261=) rs76812964 0.02298
NM_000814.6(GABRB3):c.1080+257dup rs59609658 0.02006
NM_000814.6(GABRB3):c.603C>T (p.Thr201=) rs75965657 0.01810
NM_021912.5(GABRB3):c.31C>T (p.Pro11Ser) rs25409 0.00354
NM_000814.6(GABRB3):c.682+20A>G rs75015217 0.00189
NM_000814.6(GABRB3):c.1158C>T (p.Gly386=) rs147235962 0.00050
NM_000814.6(GABRB3):c.1293G>A (p.Arg431=) rs75914945 0.00044
NM_000814.6(GABRB3):c.80+11G>A rs368259836 0.00027
NM_000814.6(GABRB3):c.1269C>G (p.His423Gln) rs76962261 0.00004
NM_000814.6(GABRB3):c.969G>A (p.Glu323=) rs77608123 0.00003
NM_021912.5(GABRB3):c.51C>G (p.Thr17=) rs201850683 0.00002
NM_021912.5(GABRB3):c.14T>A (p.Leu5His) rs770416017 0.00001
NM_000814.5(GABRB3):c.-828C>G rs20317
NM_000814.6(GABRB3):c.-99GGC[6] rs548775630
NM_000814.6(GABRB3):c.1005C>T (p.Gly335=) rs74907974
NM_000814.6(GABRB3):c.1080+256C>A rs59909240
NM_000814.6(GABRB3):c.240+55589G>A rs989212997
NM_000814.6(GABRB3):c.240+55604T>C rs796804391
NM_000814.6(GABRB3):c.241-7147_241-7146dup rs71420014
NM_000814.6(GABRB3):c.241-7183_241-7180del rs75313169
NM_000814.6(GABRB3):c.241-7715C>T rs13329457
NM_000814.6(GABRB3):c.461+140dup rs5811434
NM_000814.6(GABRB3):c.461+232TA[2] rs79524521
NM_000814.6(GABRB3):c.836-336C>T rs11631853

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.