ClinVar Miner

List of variants in gene GLRA1 reported as pathogenic for hereditary hyperekplexia

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 64
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HGVS dbSNP gnomAD frequency
NM_000171.4(GLRA1):c.1108G>A (p.Gly370Ser) rs116474260 0.00939
NM_000171.4(GLRA1):c.199G>A (p.Val67Met) rs142888296 0.00019
NM_000171.4(GLRA1):c.1259G>A (p.Arg420His) rs281864919 0.00003
NM_000171.4(GLRA1):c.1030C>T (p.Arg344Ter) rs281864913 0.00002
NM_000171.4(GLRA1):c.391G>A (p.Glu131Lys) rs779234204 0.00002
NM_000171.4(GLRA1):c.736C>T (p.Arg246Trp) rs751659671 0.00002
NM_000171.4(GLRA1):c.22C>T (p.Arg8Ter) rs1296531416 0.00001
NM_000171.4(GLRA1):c.292G>A (p.Asp98Asn) rs760390019 0.00001
NM_000171.4(GLRA1):c.299G>A (p.Arg100His) rs281864914 0.00001
NM_000171.4(GLRA1):c.378del (p.Phe127fs) rs750107200 0.00001
NM_000171.4(GLRA1):c.523A>G (p.Met175Val) rs121918414 0.00001
NM_000171.4(GLRA1):c.569C>T (p.Thr190Met) rs781570584 0.00001
NM_000171.4(GLRA1):c.839G>A (p.Arg280His) rs281864918 0.00001
NM_000171.4(GLRA1):c.895C>T (p.Arg299Ter) rs757488419 0.00001
NM_000171.4(GLRA1):c.971C>A (p.Ser324Ter) rs121918418 0.00001
NM_000171.4(GLRA1):c.994G>A (p.Val332Ile) rs1468001309 0.00001
NC_000005.10:g.(?_151924474)_(151924569_?)del
NC_000005.9:g.(?_151230931)_(151304110_?)del
NC_000005.9:g.(?_151235842)_(151272019_?)del
NC_000005.9:g.(?_151239326)_(151239589_?)del
NC_000005.9:g.(?_151266262)_(151266369_?)del
NC_000005.9:g.(?_151304035)_(151304110_?)del
NM_000171.3(GLRA1):c.[1030C>T];[288G>T]
NM_000171.3(GLRA1):c.[1259G>A];[839G>A]
NM_000171.3(GLRA1):c.[298delC];[523A>G]
NM_000171.4(GLRA1):c.1059+1G>A
NM_000171.4(GLRA1):c.1101T>A (p.Tyr367Ter) rs758811460
NM_000171.4(GLRA1):c.186dup (p.Pro63fs) rs1753918029
NM_000171.4(GLRA1):c.252+2T>C rs1554085893
NM_000171.4(GLRA1):c.258_260del (p.Tyr86_Arg87delinsTer)
NM_000171.4(GLRA1):c.277C>T (p.Arg93Trp) rs199547699
NM_000171.4(GLRA1):c.278G>T (p.Arg93Leu)
NM_000171.4(GLRA1):c.298C>T (p.Arg100Cys)
NM_000171.4(GLRA1):c.298del (p.Arg100fs) rs281864915
NM_000171.4(GLRA1):c.365G>A (p.Trp122Ter)
NM_000171.4(GLRA1):c.376del (p.Leu126fs) rs2113359152
NM_000171.4(GLRA1):c.381dup (p.Phe128fs)
NM_000171.4(GLRA1):c.415del (p.Ile139fs)
NM_000171.4(GLRA1):c.477-1G>A rs762864856
NM_000171.4(GLRA1):c.537dup (p.Cys180fs)
NM_000171.4(GLRA1):c.613C>T (p.Gln205Ter)
NM_000171.4(GLRA1):c.634_635del (p.Leu212fs) rs765708068
NM_000171.4(GLRA1):c.675C>A (p.Tyr225Ter) rs2113349880
NM_000171.4(GLRA1):c.690C>A (p.Tyr230Ter) rs121918415
NM_000171.4(GLRA1):c.708del (p.Cys237fs)
NM_000171.4(GLRA1):c.725del (p.Phe242fs)
NM_000171.4(GLRA1):c.737G>A (p.Arg246Gln) rs281864916
NM_000171.4(GLRA1):c.777C>G (p.Ser259Arg) rs121918417
NM_000171.4(GLRA1):c.801G>C (p.Trp267Cys) rs281864917
NM_000171.4(GLRA1):c.815T>A (p.Ile272Asn) rs121918409
NM_000171.4(GLRA1):c.832C>A (p.Pro278Thr) rs121918413
NM_000171.4(GLRA1):c.862G>A (p.Val288Met) rs121918416
NM_000171.4(GLRA1):c.882G>C (p.Gln294His) rs121918411
NM_000171.4(GLRA1):c.884G>A (p.Ser295Asn) rs267606848
NM_000171.4(GLRA1):c.892T>A (p.Ser298Thr) rs281864920
NM_000171.4(GLRA1):c.896G>A (p.Arg299Gln) rs121918408
NM_000171.4(GLRA1):c.896G>T (p.Arg299Leu) rs121918408
NM_000171.4(GLRA1):c.910A>G (p.Lys304Glu) rs121918412
NM_000171.4(GLRA1):c.920A>C (p.Tyr307Ser) rs121918410
NM_000171.4(GLRA1):c.920A>G (p.Tyr307Cys) rs121918410
NM_000171.4(GLRA1):c.921del (p.Ser306_Tyr307insTer) rs281864921
NM_000171.4(GLRA1):c.991_1000del (p.Ala331fs)
NM_000171.4(GLRA1):c.99dup (p.Lys34fs)
NM_001146040.1(GLRA1):c.(?_-287)_(912+?)del

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