ClinVar Miner

List of variants reported as pathogenic for hereditary hyperekplexia by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 113
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HGVS dbSNP gnomAD frequency
NM_000171.4(GLRA1):c.199G>A (p.Val67Met) rs142888296 0.00019
NM_004211.5(SLC6A5):c.1131C>A (p.Tyr377Ter) rs121908493 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.378del (p.Phe127fs) rs750107200 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_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_000171.4(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.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.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.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.896G>A (p.Arg299Gln) rs121918408
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.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.618C>G (p.Tyr206Ter)
NM_000824.5(GLRB):c.704del (p.Lys235fs)
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_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.1409C>G (p.Ser470Ter) rs782206262
NM_001353921.2(ARHGEF9):c.1423dup (p.Tyr475fs)
NM_001353921.2(ARHGEF9):c.216G>A (p.Trp72Ter)
NM_001353921.2(ARHGEF9):c.332G>A (p.Arg111Gln) rs1556401714
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.886C>T (p.Arg296Ter) rs1135401795
NM_001353921.2(ARHGEF9):c.890G>A (p.Arg297His)
NM_001353921.2(ARHGEF9):c.922C>T (p.Gln308Ter) rs1569458475
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.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.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.997_998del (p.Ile333fs) rs1203538648

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