ClinVar Miner

List of variants in gene GLRB reported as likely benign for hereditary hyperekplexia

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 160
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000824.5(GLRB):c.527+7T>C rs138020195 0.00215
NM_000824.5(GLRB):c.185G>A (p.Arg62Lys) rs144279427 0.00043
NM_000824.5(GLRB):c.822C>T (p.Tyr274=) rs147320218 0.00042
NM_000824.5(GLRB):c.229+8T>G rs373221915 0.00034
NM_000824.5(GLRB):c.1133G>A (p.Gly378Glu) rs149915285 0.00022
NM_000824.5(GLRB):c.222C>T (p.Asn74=) rs147802211 0.00022
NM_000824.5(GLRB):c.120A>G (p.Pro40=) rs144873205 0.00011
NM_000824.5(GLRB):c.540T>C (p.Thr180=) rs770664655 0.00009
NM_000824.5(GLRB):c.92A>G (p.Lys31Arg) rs149863285 0.00009
NM_000824.5(GLRB):c.313A>G (p.Ile105Val) rs529837532 0.00008
NM_000824.5(GLRB):c.610+18T>A rs747212960 0.00008
NM_000824.5(GLRB):c.624T>C (p.Thr208=) rs200824493 0.00008
NM_000824.5(GLRB):c.838A>G (p.Ile280Val) rs199840817 0.00008
NM_000824.5(GLRB):c.205C>T (p.Pro69Ser) rs555010961 0.00007
NM_000824.5(GLRB):c.1044A>G (p.Ala348=) rs139165593 0.00006
NM_000824.5(GLRB):c.1290T>C (p.Phe430=) rs767042497 0.00006
NM_000824.5(GLRB):c.298-13A>C rs371129516 0.00006
NM_000824.5(GLRB):c.298-6del rs774738353 0.00006
NM_000824.5(GLRB):c.882G>A (p.Ala294=) rs376097077 0.00006
NM_000824.5(GLRB):c.905-15T>C rs759530266 0.00006
NM_000824.5(GLRB):c.1338C>T (p.Asn446=) rs757748175 0.00005
NM_000824.5(GLRB):c.1458G>C (p.Leu486Phe) rs377603371 0.00005
NM_000824.5(GLRB):c.816G>A (p.Gly272=) rs1055997635 0.00005
NM_000824.5(GLRB):c.1293A>G (p.Glu431=) rs376189752 0.00004
NM_000824.5(GLRB):c.405C>T (p.Tyr135=) rs370272682 0.00004
NM_000824.5(GLRB):c.423T>C (p.Pro141=) rs145564477 0.00004
NM_000824.5(GLRB):c.546A>C (p.Ser182=) rs551200623 0.00003
NM_000824.5(GLRB):c.1197+20A>G rs761762172 0.00002
NM_000824.5(GLRB):c.207C>G (p.Pro69=) rs772979401 0.00002
NM_000824.5(GLRB):c.736T>C (p.Tyr246His) rs745824514 0.00002
NM_000824.5(GLRB):c.786G>A (p.Leu262=) rs780810946 0.00002
NM_000824.5(GLRB):c.904+13A>G rs752476441 0.00002
NM_000824.5(GLRB):c.123-7C>T rs1029530397 0.00001
NM_000824.5(GLRB):c.1230T>C (p.Thr410=) rs1235842918 0.00001
NM_000824.5(GLRB):c.132A>C (p.Ser44=) rs778930746 0.00001
NM_000824.5(GLRB):c.1386G>A (p.Ala462=) rs771819827 0.00001
NM_000824.5(GLRB):c.1414C>A (p.Arg472=) rs570886685 0.00001
NM_000824.5(GLRB):c.210G>A (p.Arg70=) rs1440659826 0.00001
NM_000824.5(GLRB):c.229+15T>C rs761155149 0.00001
NM_000824.5(GLRB):c.297+7T>C rs769096368 0.00001
NM_000824.5(GLRB):c.298-20C>T rs779389511 0.00001
NM_000824.5(GLRB):c.453C>G (p.Ala151=) rs372401049 0.00001
NM_000824.5(GLRB):c.610+7A>C rs758829852 0.00001
NM_000824.5(GLRB):c.752-15G>A rs1297406909 0.00001
NM_000824.5(GLRB):c.798C>T (p.Val266=) rs148773767 0.00001
NM_000824.5(GLRB):c.1020G>A (p.Gly340=) rs1302379622
NM_000824.5(GLRB):c.1026T>C (p.Ala342=)
NM_000824.5(GLRB):c.1029C>T (p.Ser343=)
NM_000824.5(GLRB):c.1074A>G (p.Lys358=)
NM_000824.5(GLRB):c.1077G>A (p.Arg359=)
NM_000824.5(GLRB):c.1197+14T>C
NM_000824.5(GLRB):c.1197+14_1197+16del
NM_000824.5(GLRB):c.1198-12A>G
NM_000824.5(GLRB):c.1198-15A>T rs2126637455
NM_000824.5(GLRB):c.1198-4T>C
NM_000824.5(GLRB):c.1198-5C>T
NM_000824.5(GLRB):c.122+12A>G
NM_000824.5(GLRB):c.122+16C>G
NM_000824.5(GLRB):c.123-14TC[3] rs2126530317
NM_000824.5(GLRB):c.123-16_123-14del rs1735775884
NM_000824.5(GLRB):c.1245G>A (p.Leu415=)
NM_000824.5(GLRB):c.1248A>G (p.Arg416=)
NM_000824.5(GLRB):c.1281A>C (p.Pro427=)
NM_000824.5(GLRB):c.1347G>A (p.Gly449=)
NM_000824.5(GLRB):c.1353T>C (p.Ser451=)
NM_000824.5(GLRB):c.1359T>C (p.Ala453=)
NM_000824.5(GLRB):c.135A>G (p.Ala45=)
NM_000824.5(GLRB):c.1385C>T (p.Ala462Val) rs148031091
NM_000824.5(GLRB):c.1389A>G (p.Lys463=)
NM_000824.5(GLRB):c.1410A>G (p.Ala470=)
NM_000824.5(GLRB):c.144T>A (p.Leu48=) rs2126530450
NM_000824.5(GLRB):c.1452C>T (p.Cys484=)
NM_000824.5(GLRB):c.1473A>T (p.Ile491=)
NM_000824.5(GLRB):c.15G>A (p.Leu5=)
NM_000824.5(GLRB):c.190T>C (p.Leu64=)
NM_000824.5(GLRB):c.229+12C>T
NM_000824.5(GLRB):c.230-12T>A
NM_000824.5(GLRB):c.230-14A>C
NM_000824.5(GLRB):c.230-14A>T
NM_000824.5(GLRB):c.230-17T>A
NM_000824.5(GLRB):c.230-17T>C
NM_000824.5(GLRB):c.230-20T>A
NM_000824.5(GLRB):c.252C>G (p.Val84=)
NM_000824.5(GLRB):c.255C>T (p.Asn85=)
NM_000824.5(GLRB):c.297+12A>G
NM_000824.5(GLRB):c.297+17T>C
NM_000824.5(GLRB):c.298-15G>T
NM_000824.5(GLRB):c.298-16T>C
NM_000824.5(GLRB):c.298-19G>A rs371067472
NM_000824.5(GLRB):c.298-19G>T rs371067472
NM_000824.5(GLRB):c.354C>T (p.Leu118=)
NM_000824.5(GLRB):c.366T>C (p.Phe122=)
NM_000824.5(GLRB):c.369G>A (p.Arg123=) rs757163799
NM_000824.5(GLRB):c.420A>G (p.Lys140=)
NM_000824.5(GLRB):c.441T>C (p.Asn147=)
NM_000824.5(GLRB):c.444A>G (p.Glu148=)
NM_000824.5(GLRB):c.45G>A (p.Leu15=) rs775265167
NM_000824.5(GLRB):c.465T>C (p.Asp155=) rs2126566483
NM_000824.5(GLRB):c.480C>T (p.Asn160=)
NM_000824.5(GLRB):c.489C>G (p.Leu163=)
NM_000824.5(GLRB):c.527+12T>A rs2126566733
NM_000824.5(GLRB):c.527+18A>G
NM_000824.5(GLRB):c.528-12T>C
NM_000824.5(GLRB):c.528-12T>G
NM_000824.5(GLRB):c.528-17C>T
NM_000824.5(GLRB):c.528-18A>G
NM_000824.5(GLRB):c.528-8G>A
NM_000824.5(GLRB):c.528-8G>T
NM_000824.5(GLRB):c.531A>G (p.Leu177=)
NM_000824.5(GLRB):c.540T>G (p.Thr180=)
NM_000824.5(GLRB):c.54A>G (p.Glu18=)
NM_000824.5(GLRB):c.564A>T (p.Thr188=)
NM_000824.5(GLRB):c.565T>C (p.Leu189=) rs2126567165
NM_000824.5(GLRB):c.573C>T (p.Pro191=)
NM_000824.5(GLRB):c.600A>G (p.Gln200=) rs2126567257
NM_000824.5(GLRB):c.60C>T (p.Ala20=)
NM_000824.5(GLRB):c.610+15A>T
NM_000824.5(GLRB):c.610+17A>C
NM_000824.5(GLRB):c.610+17A>G
NM_000824.5(GLRB):c.610+26_610+27insTTGAAATGAGAACATAATTGATT
NM_000824.5(GLRB):c.611-10T>C
NM_000824.5(GLRB):c.611-14G>T
NM_000824.5(GLRB):c.611-18A>G
NM_000824.5(GLRB):c.621A>G (p.Thr207=)
NM_000824.5(GLRB):c.648G>A (p.Gln216=) rs2126571916
NM_000824.5(GLRB):c.66T>C (p.Ser22=)
NM_000824.5(GLRB):c.684G>A (p.Leu228=)
NM_000824.5(GLRB):c.690A>G (p.Gln230=)
NM_000824.5(GLRB):c.693T>C (p.Phe231=)
NM_000824.5(GLRB):c.6G>A (p.Lys2=)
NM_000824.5(GLRB):c.741T>C (p.Tyr247=)
NM_000824.5(GLRB):c.751+11T>C rs746886538
NM_000824.5(GLRB):c.751+13C>G
NM_000824.5(GLRB):c.751+14T>C
NM_000824.5(GLRB):c.752-13T>C rs2126583381
NM_000824.5(GLRB):c.752-4A>G
NM_000824.5(GLRB):c.752-6T>C rs2126583392
NM_000824.5(GLRB):c.777C>A (p.Ile259=) rs2126583488
NM_000824.5(GLRB):c.807C>T (p.Tyr269=)
NM_000824.5(GLRB):c.816G>T (p.Gly272=)
NM_000824.5(GLRB):c.837C>G (p.Leu279=)
NM_000824.5(GLRB):c.846T>C (p.Val282=) rs2126583832
NM_000824.5(GLRB):c.849C>T (p.Leu283=)
NM_000824.5(GLRB):c.861C>T (p.Ser287=)
NM_000824.5(GLRB):c.876G>A (p.Pro292=)
NM_000824.5(GLRB):c.879C>T (p.Asp293=)
NM_000824.5(GLRB):c.904+15G>A
NM_000824.5(GLRB):c.904+4A>G rs76714257
NM_000824.5(GLRB):c.904+4A>T rs76714257
NM_000824.5(GLRB):c.905-16C>T
NM_000824.5(GLRB):c.909C>T (p.Ile303=)
NM_000824.5(GLRB):c.918C>T (p.Val306=)
NM_000824.5(GLRB):c.924C>T (p.Ser308=)
NM_000824.5(GLRB):c.930C>T (p.Ala310=)
NM_000824.5(GLRB):c.945C>A (p.Thr315=) rs747493770
NM_000824.5(GLRB):c.945C>G (p.Thr315=) rs747493770
NM_000824.5(GLRB):c.945C>T (p.Thr315=) rs747493770
NM_000824.5(GLRB):c.951C>G (p.Ala317=) rs748373061
NM_000824.5(GLRB):c.951C>T (p.Ala317=) rs748373061
NM_000824.5(GLRB):c.96G>A (p.Gly32=)

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.