ClinVar Miner

List of variants in gene GLRA1 reported as uncertain significance for hereditary hyperekplexia

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 227
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HGVS dbSNP gnomAD frequency
NM_000171.4(GLRA1):c.1296G>T (p.Met432Ile) rs141039714 0.00034
NM_000171.4(GLRA1):c.50T>C (p.Phe17Ser) rs376426309 0.00009
NM_000171.4(GLRA1):c.1325G>A (p.Arg442His) rs200130685 0.00006
NM_000171.4(GLRA1):c.88C>A (p.Arg30Ser) rs369873008 0.00006
NM_000171.4(GLRA1):c.1040G>C (p.Arg347Thr) rs147156518 0.00005
NM_000171.4(GLRA1):c.448C>T (p.Arg150Trp) rs374834686 0.00005
NM_000171.4(GLRA1):c.1192T>C (p.Ser398Pro) rs1210847781 0.00004
NM_000171.4(GLRA1):c.1295T>C (p.Met432Thr) rs1284734503 0.00004
NM_000171.4(GLRA1):c.1331A>G (p.Glu444Gly) rs752781486 0.00004
NM_000171.4(GLRA1):c.1058A>G (p.Lys353Arg) rs764794082 0.00003
NM_000171.4(GLRA1):c.1072G>A (p.Gly358Arg) rs774175391 0.00003
NM_000171.4(GLRA1):c.1199C>T (p.Ser400Phe) rs780710712 0.00003
NM_000171.4(GLRA1):c.1210A>T (p.Met404Leu) rs151276682 0.00003
NM_000171.4(GLRA1):c.1274T>C (p.Met425Thr) rs747623314 0.00003
NM_000171.4(GLRA1):c.94G>A (p.Ala32Thr) rs779993828 0.00003
NM_000171.4(GLRA1):c.1010G>A (p.Arg337Gln) rs1169119477 0.00002
NM_000171.4(GLRA1):c.1319T>C (p.Ile440Thr) rs555222589 0.00002
NM_000171.4(GLRA1):c.477-5C>T rs560187719 0.00002
NM_000171.4(GLRA1):c.57C>T (p.Ser19=) rs1003664889 0.00002
NM_000171.4(GLRA1):c.622G>A (p.Asp208Asn) rs763939987 0.00002
NM_000171.4(GLRA1):c.656A>G (p.Glu219Gly) rs773542781 0.00002
NM_000171.4(GLRA1):c.696A>G (p.Thr232=) rs374982085 0.00002
NM_000171.4(GLRA1):c.-130G>A rs886060282 0.00001
NM_000171.4(GLRA1):c.-271G>C rs886060283 0.00001
NM_000171.4(GLRA1):c.1069G>A (p.Ala357Thr) rs1379750212 0.00001
NM_000171.4(GLRA1):c.1081C>T (p.Arg361Cys) rs748241173 0.00001
NM_000171.4(GLRA1):c.1082G>A (p.Arg361His) rs147471585 0.00001
NM_000171.4(GLRA1):c.1093T>G (p.Ser365Ala) rs146911085 0.00001
NM_000171.4(GLRA1):c.1097C>A (p.Ala366Asp) rs372342365 0.00001
NM_000171.4(GLRA1):c.10T>G (p.Phe4Val) rs753680915 0.00001
NM_000171.4(GLRA1):c.1154C>A (p.Ala385Asp) rs1581592590 0.00001
NM_000171.4(GLRA1):c.1158C>A (p.Asn386Lys) rs776916010 0.00001
NM_000171.4(GLRA1):c.116C>T (p.Ser39Leu) rs766445967 0.00001
NM_000171.4(GLRA1):c.1213C>T (p.Arg405Ter) rs375152105 0.00001
NM_000171.4(GLRA1):c.1241A>T (p.Lys414Met) rs775717500 0.00001
NM_000171.4(GLRA1):c.1253T>C (p.Ile418Thr) rs1239753439 0.00001
NM_000171.4(GLRA1):c.1261A>G (p.Ile421Val) rs778280697 0.00001
NM_000171.4(GLRA1):c.1292A>G (p.Asn431Ser) rs780883216 0.00001
NM_000171.4(GLRA1):c.1315A>C (p.Lys439Gln) rs1050028851 0.00001
NM_000171.4(GLRA1):c.1339C>A (p.His447Asn) rs146481873 0.00001
NM_000171.4(GLRA1):c.143G>A (p.Arg48Lys) rs151029950 0.00001
NM_000171.4(GLRA1):c.151G>A (p.Gly51Arg) rs1408253842 0.00001
NM_000171.4(GLRA1):c.15T>A (p.Asn5Lys) rs373114110 0.00001
NM_000171.4(GLRA1):c.165G>C (p.Arg55Ser) rs1396622824 0.00001
NM_000171.4(GLRA1):c.284A>C (p.Gln95Pro) rs1131691474 0.00001
NM_000171.4(GLRA1):c.31C>A (p.Leu11Ile) rs750512870 0.00001
NM_000171.4(GLRA1):c.325G>A (p.Asp109Asn) rs1310413185 0.00001
NM_000171.4(GLRA1):c.342C>A (p.Asp114Glu) rs1224142581 0.00001
NM_000171.4(GLRA1):c.347C>A (p.Ser116Tyr) rs775032574 0.00001
NM_000171.4(GLRA1):c.385G>A (p.Ala129Thr) rs867853750 0.00001
NM_000171.4(GLRA1):c.44T>C (p.Ile15Thr) rs769117123 0.00001
NM_000171.4(GLRA1):c.473T>C (p.Ile158Thr) rs371331129 0.00001
NM_000171.4(GLRA1):c.476+5G>T rs766221222 0.00001
NM_000171.4(GLRA1):c.517T>C (p.Phe173Leu) rs746144414 0.00001
NM_000171.4(GLRA1):c.520C>T (p.Pro174Ser) rs774560550 0.00001
NM_000171.4(GLRA1):c.523A>G (p.Met175Val) rs121918414 0.00001
NM_000171.4(GLRA1):c.525G>A (p.Met175Ile) rs1341348939 0.00001
NM_000171.4(GLRA1):c.536C>T (p.Thr179Ile) rs372452903 0.00001
NM_000171.4(GLRA1):c.542T>A (p.Ile181Asn) rs780795063 0.00001
NM_000171.4(GLRA1):c.559+5G>A rs1186139441 0.00001
NM_000171.4(GLRA1):c.56+2T>C rs778631570 0.00001
NM_000171.4(GLRA1):c.56+5G>A rs373393975 0.00001
NM_000171.4(GLRA1):c.604G>C (p.Gly202Arg) rs1295407167 0.00001
NM_000171.4(GLRA1):c.605G>A (p.Gly202Glu) rs750242262 0.00001
NM_000171.4(GLRA1):c.664G>A (p.Asp222Asn) rs1446144797 0.00001
NM_000171.4(GLRA1):c.697+9A>C rs886060280 0.00001
NM_000171.4(GLRA1):c.721C>T (p.Arg241Trp) rs776919102 0.00001
NM_000171.4(GLRA1):c.836C>T (p.Ala279Val) rs900189503 0.00001
NM_000171.4(GLRA1):c.872T>C (p.Met291Thr) rs1314623901 0.00001
NM_000171.4(GLRA1):c.889G>A (p.Gly297Ser) rs1561556166 0.00001
NM_000171.4(GLRA1):c.92C>T (p.Ser31Phe) rs200171902 0.00001
NM_000171.4(GLRA1):c.958C>A (p.Leu320Ile) rs1235266841 0.00001
NC_000005.10:g.151856298CA[3]
NC_000005.9:g.(?_151208462)_(151208648_?)del
NC_000005.9:g.(?_151266262)_(151304110_?)dup
NC_000005.9:g.(?_151271852)_(151304110_?)dup
NC_000005.9:g.(?_151304045)_(151304110_?)dup
NM_000171.4(GLRA1):c.-80G>A rs886060281
NM_000171.4(GLRA1):c.-81C>G rs1754966368
NM_000171.4(GLRA1):c.1001T>C (p.Phe334Ser)
NM_000171.4(GLRA1):c.1016A>G (p.His339Arg)
NM_000171.4(GLRA1):c.101A>G (p.Lys34Arg) rs1254833783
NM_000171.4(GLRA1):c.1025T>C (p.Leu342Pro)
NM_000171.4(GLRA1):c.1028T>C (p.Leu343Pro) rs148221542
NM_000171.4(GLRA1):c.103C>G (p.Pro35Ala)
NM_000171.4(GLRA1):c.1045C>T (p.Arg349Trp) rs752071816
NM_000171.4(GLRA1):c.1046G>T (p.Arg349Leu) rs139213838
NM_000171.4(GLRA1):c.104C>T (p.Pro35Leu)
NM_000171.4(GLRA1):c.1054C>G (p.His352Asp)
NM_000171.4(GLRA1):c.1059G>C (p.Lys353Asn)
NM_000171.4(GLRA1):c.1064A>G (p.Asp355Gly) rs1763180019
NM_000171.4(GLRA1):c.106A>G (p.Met36Val) rs1754101255
NM_000171.4(GLRA1):c.1073G>A (p.Gly358Glu)
NM_000171.4(GLRA1):c.1079G>C (p.Gly360Ala)
NM_000171.4(GLRA1):c.1115C>A (p.Ala372Asp)
NM_000171.4(GLRA1):c.1124A>T (p.Gln375Leu)
NM_000171.4(GLRA1):c.112C>A (p.Pro38Thr)
NM_000171.4(GLRA1):c.1132G>T (p.Asp378Tyr)
NM_000171.4(GLRA1):c.1136G>A (p.Gly379Asp) rs2113277098
NM_000171.4(GLRA1):c.1139_1162del (p.Ile380_Asn387del)
NM_000171.4(GLRA1):c.1140C>G (p.Ile380Met)
NM_000171.4(GLRA1):c.1142C>T (p.Ser381Leu) rs752407825
NM_000171.4(GLRA1):c.1154C>T (p.Ala385Val)
NM_000171.4(GLRA1):c.1157ACA[1] (p.Asn387del)
NM_000171.4(GLRA1):c.1163G>C (p.Ser388Thr) rs1312246907
NM_000171.4(GLRA1):c.1174A>T (p.Asn392Tyr) rs775599403
NM_000171.4(GLRA1):c.1180C>T (p.Pro394Ser) rs779337812
NM_000171.4(GLRA1):c.1181C>G (p.Pro394Arg) rs62636581
NM_000171.4(GLRA1):c.1204G>A (p.Glu402Lys) rs1471630110
NM_000171.4(GLRA1):c.1204GAG[1] (p.Glu403del) rs767780037
NM_000171.4(GLRA1):c.1207G>C (p.Glu403Gln)
NM_000171.4(GLRA1):c.1212G>A (p.Met404Ile)
NM_000171.4(GLRA1):c.1214G>T (p.Arg405Leu) rs199561280
NM_000171.4(GLRA1):c.1218A>C (p.Lys406Asn)
NM_000171.4(GLRA1):c.1226T>A (p.Ile409Asn)
NM_000171.4(GLRA1):c.1229A>C (p.Gln410Pro)
NM_000171.4(GLRA1):c.1234G>A (p.Ala412Thr) rs1763171970
NM_000171.4(GLRA1):c.1237A>G (p.Lys413Glu) rs2113276596
NM_000171.4(GLRA1):c.1240A>C (p.Lys414Gln)
NM_000171.4(GLRA1):c.1248C>G (p.Asp416Glu)
NM_000171.4(GLRA1):c.1262T>C (p.Ile421Thr)
NM_000171.4(GLRA1):c.1264G>A (p.Gly422Ser)
NM_000171.4(GLRA1):c.1265G>A (p.Gly422Asp) rs2113276466
NM_000171.4(GLRA1):c.1273A>G (p.Met425Val)
NM_000171.4(GLRA1):c.1286T>C (p.Ile429Thr) rs2113276406
NM_000171.4(GLRA1):c.129T>G (p.Asp43Glu)
NM_000171.4(GLRA1):c.1300T>C (p.Tyr434His)
NM_000171.4(GLRA1):c.1313A>G (p.Tyr438Cys)
NM_000171.4(GLRA1):c.1316A>G (p.Lys439Arg)
NM_000171.4(GLRA1):c.1321G>A (p.Val441Ile)
NM_000171.4(GLRA1):c.1324C>T (p.Arg442Cys) rs750346568
NM_000171.4(GLRA1):c.1333G>T (p.Asp445Tyr) rs886060279
NM_000171.4(GLRA1):c.1336G>A (p.Val446Ile)
NM_000171.4(GLRA1):c.1337T>C (p.Val446Ala)
NM_000171.4(GLRA1):c.1341C>A (p.His447Gln)
NM_000171.4(GLRA1):c.137T>A (p.Met46Lys)
NM_000171.4(GLRA1):c.139G>A (p.Gly47Arg) rs759998394
NM_000171.4(GLRA1):c.14A>G (p.Asn5Ser)
NM_000171.4(GLRA1):c.164G>C (p.Arg55Thr) rs1561574547
NM_000171.4(GLRA1):c.184+4G>A
NM_000171.4(GLRA1):c.184+6G>A rs1754097765
NM_000171.4(GLRA1):c.184+6G>C
NM_000171.4(GLRA1):c.185-3C>T
NM_000171.4(GLRA1):c.191C>T (p.Pro64Leu) rs2113407376
NM_000171.4(GLRA1):c.194T>G (p.Val65Gly) rs2113407361
NM_000171.4(GLRA1):c.198C>G (p.Asn66Lys)
NM_000171.4(GLRA1):c.1A>G (p.Met1Val) rs1754962750
NM_000171.4(GLRA1):c.229G>T (p.Gly77Cys) rs761410250
NM_000171.4(GLRA1):c.236T>C (p.Ile79Thr) rs1554085896
NM_000171.4(GLRA1):c.252+3G>A rs1581645103
NM_000171.4(GLRA1):c.253-14T>C rs780604003
NM_000171.4(GLRA1):c.266A>G (p.Asn89Ser) rs2113359473
NM_000171.4(GLRA1):c.278G>A (p.Arg93Gln)
NM_000171.4(GLRA1):c.286T>C (p.Trp96Arg) rs2113359417
NM_000171.4(GLRA1):c.2T>C (p.Met1Thr)
NM_000171.4(GLRA1):c.2T>G (p.Met1Arg)
NM_000171.4(GLRA1):c.311A>G (p.Asn104Ser)
NM_000171.4(GLRA1):c.329C>G (p.Ser110Cys)
NM_000171.4(GLRA1):c.335A>C (p.Asp112Ala)
NM_000171.4(GLRA1):c.337C>G (p.Leu113Val)
NM_000171.4(GLRA1):c.346T>A (p.Ser116Thr) rs932099226
NM_000171.4(GLRA1):c.346T>C (p.Ser116Pro) rs932099226
NM_000171.4(GLRA1):c.35G>C (p.Trp12Ser)
NM_000171.4(GLRA1):c.36G>C (p.Trp12Cys) rs1064797316
NM_000171.4(GLRA1):c.39G>C (p.Glu13Asp) rs141704405
NM_000171.4(GLRA1):c.3G>T (p.Met1Ile) rs1174467547
NM_000171.4(GLRA1):c.405C>A (p.His135Gln)
NM_000171.4(GLRA1):c.40A>G (p.Thr14Ala)
NM_000171.4(GLRA1):c.41C>T (p.Thr14Ile)
NM_000171.4(GLRA1):c.436C>A (p.Leu146Ile) rs2113358962
NM_000171.4(GLRA1):c.442A>G (p.Ile148Val)
NM_000171.4(GLRA1):c.449G>C (p.Arg150Pro) rs561848502
NM_000171.4(GLRA1):c.461T>A (p.Val154Asp)
NM_000171.4(GLRA1):c.469A>G (p.Ser157Gly) rs1561560166
NM_000171.4(GLRA1):c.476+6T>A
NM_000171.4(GLRA1):c.47T>C (p.Val16Ala)
NM_000171.4(GLRA1):c.49T>C (p.Phe17Leu) rs1754959178
NM_000171.4(GLRA1):c.49TTC[1] (p.Phe18del)
NM_000171.4(GLRA1):c.4T>C (p.Tyr2His) rs778643926
NM_000171.4(GLRA1):c.500C>T (p.Pro167Leu) rs2113352246
NM_000171.4(GLRA1):c.502A>G (p.Met168Val)
NM_000171.4(GLRA1):c.528T>A (p.Asp176Glu)
NM_000171.4(GLRA1):c.536C>A (p.Thr179Lys)
NM_000171.4(GLRA1):c.543C>G (p.Ile181Met) rs1753041280
NM_000171.4(GLRA1):c.549A>C (p.Gln183His) rs1554083905
NM_000171.4(GLRA1):c.550C>G (p.Leu184Val) rs2113352064
NM_000171.4(GLRA1):c.559+6T>A
NM_000171.4(GLRA1):c.569C>G (p.Thr190Arg)
NM_000171.4(GLRA1):c.572T>C (p.Met191Thr)
NM_000171.4(GLRA1):c.578A>T (p.Asp193Val)
NM_000171.4(GLRA1):c.589G>A (p.Glu197Lys)
NM_000171.4(GLRA1):c.593G>C (p.Trp198Ser) rs202247813
NM_000171.4(GLRA1):c.5A>G (p.Tyr2Cys)
NM_000171.4(GLRA1):c.600A>T (p.Glu200Asp) rs1192986592
NM_000171.4(GLRA1):c.608C>A (p.Ala203Asp) rs980887652
NM_000171.4(GLRA1):c.610G>A (p.Val204Met) rs1554083817
NM_000171.4(GLRA1):c.617T>G (p.Val206Gly) rs1581619756
NM_000171.4(GLRA1):c.631A>C (p.Thr211Pro)
NM_000171.4(GLRA1):c.65_79del (p.Ala22_Ala26del)
NM_000171.4(GLRA1):c.680_681delinsAA (p.Thr227Lys)
NM_000171.4(GLRA1):c.68C>T (p.Ser23Phe)
NM_000171.4(GLRA1):c.711C>G (p.Cys237Trp)
NM_000171.4(GLRA1):c.719C>T (p.Ala240Val)
NM_000171.4(GLRA1):c.767A>G (p.Tyr256Cys)
NM_000171.4(GLRA1):c.770T>C (p.Ile257Thr) rs1752910323
NM_000171.4(GLRA1):c.772C>T (p.Pro258Ser)
NM_000171.4(GLRA1):c.778C>A (p.Leu260Met) rs2113343595
NM_000171.4(GLRA1):c.793C>T (p.Leu265Phe) rs1554083597
NM_000171.4(GLRA1):c.7A>G (p.Ser3Gly) rs2113472081
NM_000171.4(GLRA1):c.805T>C (p.Ser269Pro)
NM_000171.4(GLRA1):c.827C>A (p.Ala276Asp)
NM_000171.4(GLRA1):c.845G>A (p.Gly282Asp) rs1581616673
NM_000171.4(GLRA1):c.845G>T (p.Gly282Val) rs1581616673
NM_000171.4(GLRA1):c.848T>C (p.Leu283Pro)
NM_000171.4(GLRA1):c.854T>C (p.Ile285Thr) rs1561556213
NM_000171.4(GLRA1):c.855_872del (p.Ile285_Thr290del) rs1188392402
NM_000171.4(GLRA1):c.85G>T (p.Ala29Ser) rs1554086308
NM_000171.4(GLRA1):c.869C>T (p.Thr290Ile) rs1064795411
NM_000171.4(GLRA1):c.889G>C (p.Gly297Arg) rs1561556166
NM_000171.4(GLRA1):c.917C>A (p.Ser306Tyr) rs2113290161
NM_000171.4(GLRA1):c.932T>C (p.Ile311Thr)
NM_000171.4(GLRA1):c.937A>G (p.Ile313Val) rs1346802411
NM_000171.4(GLRA1):c.942G>C (p.Trp314Cys) rs867618642
NM_000171.4(GLRA1):c.943A>T (p.Met315Leu)
NM_000171.4(GLRA1):c.953G>T (p.Cys318Phe)
NM_000171.4(GLRA1):c.981A>T (p.Leu327Phe)
NM_000171.4(GLRA1):c.985T>C (p.Tyr329His)

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