ClinVar Miner

List of variants reported as pathogenic for hereditary hyperekplexia

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 159
Download table as spreadsheet
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_020806.5(GPHN):c.28A>T (p.Asn10Tyr) rs121908539 0.00016
NM_004211.5(SLC6A5):c.1274C>T (p.Thr425Met) rs121908498 0.00009
NM_004211.5(SLC6A5):c.1131C>A (p.Tyr377Ter) rs121908493 0.00004
NM_004211.5(SLC6A5):c.1472A>G (p.Tyr491Cys) rs121908494 0.00004
NM_000171.4(GLRA1):c.1259G>A (p.Arg420His) rs281864919 0.00003
NM_000824.5(GLRB):c.610+5G>A rs281864922 0.00003
NM_004211.5(SLC6A5):c.90C>A (p.Cys30Ter) rs186704689 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_004211.5(SLC6A5):c.1315C>T (p.Arg439Ter) rs142573911 0.00002
NM_004211.5(SLC6A5):c.9C>A (p.Cys3Ter) rs752254977 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
NM_000824.5(GLRB):c.634C>T (p.Arg212Ter) rs373790643 0.00001
NM_001321967.2(ATAD1):c.1070_1071del (p.His357fs) rs751499706 0.00001
NM_004211.5(SLC6A5):c.1430del (p.Ser477fs) rs767695215 0.00001
NM_004211.5(SLC6A5):c.1621C>T (p.Gln541Ter) rs931802079 0.00001
NM_004211.5(SLC6A5):c.1640T>C (p.Phe547Ser) rs772652517 0.00001
NM_004211.5(SLC6A5):c.187C>T (p.Gln63Ter) rs1474968844 0.00001
NM_004211.5(SLC6A5):c.1969+4A>T rs1476186922 0.00001
NM_004211.5(SLC6A5):c.2070+1G>A rs770660705 0.00001
NM_004211.5(SLC6A5):c.571C>T (p.Arg191Ter) rs376783257 0.00001
NM_004211.5(SLC6A5):c.683C>A (p.Ala228Asp) rs371265931 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
NC_000011.9:g.(?_20612464)_(20622873_?)del
NC_000011.9:g.(?_20617213)_(20623070_?)del
NC_000011.9:g.(?_20621219)_(20625990_?)del
NC_000011.9:g.(?_20621219)_(20668500_?)del
NC_000011.9:g.(?_20625977)_(20687645_?)del
NC_000011.9:g.(?_20668360)_(20668500_?)del
NC_000023.10:g.(?_62857908)_(62863948_?)del
NC_000023.10:g.(?_62875354)_(62875637_?)del
NM_000171.3(GLRA1):c.(?_-287)_697+?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_000824.5(GLRB):c.1114C>T (p.Gln372Ter) rs770934436
NM_000824.5(GLRB):c.122+1G>A rs1579175843
NM_000824.5(GLRB):c.1221dup (p.Val408fs) rs746631259
NM_000824.5(GLRB):c.123-2A>G rs1415892964
NM_000824.5(GLRB):c.24del (p.Phe9_Leu10insTer) rs1380139789
NM_000824.5(GLRB):c.371del (p.Gly124fs) rs2126566107
NM_000824.5(GLRB):c.448dup (p.Ser150fs) rs1560962569
NM_000824.5(GLRB):c.449del (p.Ser150fs)
NM_000824.5(GLRB):c.472del (p.Gln158fs) rs1560962636
NM_000824.5(GLRB):c.596T>G (p.Met199Arg) rs398122856
NM_000824.5(GLRB):c.618C>G (p.Tyr206Ter)
NM_000824.5(GLRB):c.704del (p.Lys235fs)
NM_000824.5(GLRB):c.752G>A (p.Gly251Asp) rs121909749
NM_000824.5(GLRB):c.756C>G (p.Tyr252Ter)
NM_000824.5(GLRB):c.762del (p.Cys255fs)
NM_000824.5(GLRB):c.84del (p.Lys31fs)
NM_001146040.1(GLRA1):c.(?_-287)_(912+?)del
NM_001321967.2(ATAD1):c.162G>C (p.Gln54His) rs1554884979
NM_001321967.2(ATAD1):c.826G>T (p.Glu276Ter) rs1554874859
NM_001353921.2(ARHGEF9):c.1030C>T (p.Gln344Ter)
NM_001353921.2(ARHGEF9):c.1033C>T (p.Arg345Trp) rs869312941
NM_001353921.2(ARHGEF9):c.1115G>A (p.Arg372His) rs2048831313
NM_001353921.2(ARHGEF9):c.1150G>T (p.Glu384Ter) rs2147218558
NM_001353921.2(ARHGEF9):c.1269G>A (p.Trp423Ter)
NM_001353921.2(ARHGEF9):c.1306del (p.Glu436fs) rs1602253296
NM_001353921.2(ARHGEF9):c.1351C>T (p.Gln451Ter)
NM_001353921.2(ARHGEF9):c.1409C>G (p.Ser470Ter) rs782206262
NM_001353921.2(ARHGEF9):c.1423dup (p.Tyr475fs)
NM_001353921.2(ARHGEF9):c.178G>T (p.Glu60Ter) rs1602577529
NM_001353921.2(ARHGEF9):c.185G>C (p.Gly62Ala) rs121918361
NM_001353921.2(ARHGEF9):c.216G>A (p.Trp72Ter)
NM_001353921.2(ARHGEF9):c.332G>A (p.Arg111Gln) rs1556401714
NM_001353921.2(ARHGEF9):c.402+1G>C
NM_001353921.2(ARHGEF9):c.4C>T (p.Gln2Ter) rs397514460
NM_001353921.2(ARHGEF9):c.556G>A (p.Glu186Lys) rs1602446549
NM_001353921.2(ARHGEF9):c.582+1G>A rs1569476483
NM_001353921.2(ARHGEF9):c.775C>T (p.Gln259Ter)
NM_001353921.2(ARHGEF9):c.813_814del (p.His271fs)
NM_001353921.2(ARHGEF9):c.886C>T (p.Arg296Ter) rs1135401795
NM_001353921.2(ARHGEF9):c.890G>A (p.Arg297His)
NM_001353921.2(ARHGEF9):c.920G>A (p.Trp307Ter) rs1556358991
NM_001353921.2(ARHGEF9):c.922C>T (p.Gln308Ter) rs1569458475
NM_001353921.2(ARHGEF9):c.928_935del (p.Ser310fs)
NM_001353921.2(ARHGEF9):c.942G>A (p.Trp314Ter) rs2147307979
NM_001353921.2(ARHGEF9):c.945G>A (p.Glu315=) rs2050112328
NM_001353921.2(ARHGEF9):c.982_983dup (p.Gly330fs) rs2147266023
NM_004211.5(SLC6A5):c.1266_1267dup (p.Tyr423fs) rs2133798401
NM_004211.5(SLC6A5):c.1286C>T (p.Pro429Leu)
NM_004211.5(SLC6A5):c.1294delinsTT (p.Val432fs) rs281864924
NM_004211.5(SLC6A5):c.1374G>A (p.Trp458Ter)
NM_004211.5(SLC6A5):c.1444T>C (p.Trp482Arg) rs281864925
NM_004211.5(SLC6A5):c.1526A>G (p.Asn509Ser) rs121908497
NM_004211.5(SLC6A5):c.1530T>G (p.Ser510Arg) rs281864926
NM_004211.5(SLC6A5):c.1680_1681del (p.Pro561fs)
NM_004211.5(SLC6A5):c.1680_1681dup (p.Pro561fs) rs1468013577
NM_004211.5(SLC6A5):c.1759del (p.Ile586_Val587insTer) rs2133809394
NM_004211.5(SLC6A5):c.1888C>T (p.Gln630Ter) rs121908495
NM_004211.5(SLC6A5):c.1893del (p.Val632fs)
NM_004211.5(SLC6A5):c.1969+1G>A
NM_004211.5(SLC6A5):c.2124C>A (p.Tyr708Ter) rs755040627
NM_004211.5(SLC6A5):c.31A>T (p.Lys11Ter)
NM_004211.5(SLC6A5):c.323del (p.Pro108fs) rs281864923
NM_004211.5(SLC6A5):c.342del (p.Gly115fs)
NM_004211.5(SLC6A5):c.677del (p.Gly226fs)
NM_004211.5(SLC6A5):c.769C>T (p.Gln257Ter)
NM_004211.5(SLC6A5):c.808C>T (p.Gln270Ter) rs778603956
NM_004211.5(SLC6A5):c.811+1G>T
NM_004211.5(SLC6A5):c.916C>G (p.Leu306Val) rs121908496
NM_004211.5(SLC6A5):c.997_998del (p.Ile333fs) rs1203538648

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.