ClinVar Miner

List of variants in gene GLRB studied for hereditary hyperekplexia

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 390
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000824.5(GLRB):c.831T>C (p.Thr277=) rs12507409 0.97830
NM_000824.5(GLRB):c.297+10C>T rs41280501 0.42413
NM_000824.5(GLRB):c.*542T>A rs1129304 0.41199
NM_000824.5(GLRB):c.-102T>C rs3822160 0.39474
NM_000824.5(GLRB):c.*1040A>G rs11941419 0.17209
NM_000824.5(GLRB):c.*1181C>T rs10517662 0.07687
NM_000824.5(GLRB):c.*853T>C rs72685584 0.07650
NM_000824.5(GLRB):c.*160G>A rs57601959 0.06374
NM_000824.5(GLRB):c.948T>C (p.Leu316=) rs1801154 0.04794
NM_000824.5(GLRB):c.-16A>T rs57784760 0.02538
NM_000824.5(GLRB):c.*575T>C rs114822438 0.02526
NM_000824.5(GLRB):c.*505T>A rs78155645 0.02225
NM_000824.5(GLRB):c.*903T>C rs116140979 0.01495
NM_000824.5(GLRB):c.611-14G>A rs11936411 0.01234
NM_000824.5(GLRB):c.-69C>T rs3822159 0.00627
NM_000824.5(GLRB):c.122+4T>A rs3775725 0.00455
NM_000824.5(GLRB):c.*84G>A rs139743350 0.00426
NM_000824.5(GLRB):c.-26G>T rs184188234 0.00321
NM_000824.5(GLRB):c.*251A>G rs41279333 0.00223
NM_000824.5(GLRB):c.527+7T>C rs138020195 0.00215
NM_000824.5(GLRB):c.*997A>T rs11941412 0.00192
NM_000824.5(GLRB):c.765C>T (p.Cys255=) rs149595296 0.00178
NM_000824.5(GLRB):c.*139G>A rs186831115 0.00154
NM_000824.5(GLRB):c.-29-8T>C rs201748580 0.00136
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.*454A>G rs753501866 0.00041
NM_000824.5(GLRB):c.1198-16C>A rs78670342 0.00039
NM_000824.5(GLRB):c.229+8T>G rs373221915 0.00034
NM_000824.5(GLRB):c.*301C>T rs571074596 0.00032
NM_000824.5(GLRB):c.*789A>G rs567848682 0.00029
NM_000824.5(GLRB):c.*594A>T rs529863303 0.00026
NM_000824.5(GLRB):c.*1243A>G rs575496039 0.00025
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.121T>C (p.Ser41Pro) rs139168167 0.00015
NM_000824.5(GLRB):c.120A>G (p.Pro40=) rs144873205 0.00011
NM_000824.5(GLRB):c.500G>A (p.Arg167His) rs200253694 0.00009
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.1197+3A>G rs369898129 0.00007
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.1054G>A (p.Val352Met) rs764867861 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.52G>A (p.Glu18Lys) rs547823780 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.1114C>A (p.Gln372Lys) rs770934436 0.00005
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.496T>C (p.Phe166Leu) rs368748559 0.00005
NM_000824.5(GLRB):c.816G>A (p.Gly272=) rs1055997635 0.00005
NM_000824.5(GLRB):c.952G>A (p.Ala318Thr) rs750803516 0.00005
NM_000824.5(GLRB):c.1293A>G (p.Glu431=) rs376189752 0.00004
NM_000824.5(GLRB):c.1415G>A (p.Arg472Gln) rs1053763362 0.00004
NM_000824.5(GLRB):c.405C>T (p.Tyr135=) rs370272682 0.00004
NM_000824.5(GLRB):c.415T>C (p.Trp139Arg) rs143539995 0.00004
NM_000824.5(GLRB):c.423T>C (p.Pro141=) rs145564477 0.00004
NM_000824.5(GLRB):c.587G>A (p.Arg196His) rs141976916 0.00004
NM_000824.5(GLRB):c.751+5G>A rs779826547 0.00004
NM_000824.5(GLRB):c.929C>T (p.Ala310Val) rs745430765 0.00004
NM_000824.5(GLRB):c.*516G>A rs886059189 0.00003
NM_000824.5(GLRB):c.1254T>G (p.Asn418Lys) rs373002083 0.00003
NM_000824.5(GLRB):c.1342C>T (p.Leu448Phe) rs750707925 0.00003
NM_000824.5(GLRB):c.37A>G (p.Ile13Val) rs771937343 0.00003
NM_000824.5(GLRB):c.448A>G (p.Ser150Gly) rs930078810 0.00003
NM_000824.5(GLRB):c.546A>C (p.Ser182=) rs551200623 0.00003
NM_000824.5(GLRB):c.610+5G>A rs281864922 0.00003
NM_000824.5(GLRB):c.611-15T>A rs1450363870 0.00003
NM_000824.5(GLRB):c.*23A>G rs762423422 0.00002
NM_000824.5(GLRB):c.*437A>G rs1206008875 0.00002
NM_000824.5(GLRB):c.1117G>C (p.Ala373Pro) rs774510039 0.00002
NM_000824.5(GLRB):c.1197+20A>G rs761762172 0.00002
NM_000824.5(GLRB):c.1213T>G (p.Cys405Gly) rs780143117 0.00002
NM_000824.5(GLRB):c.207C>G (p.Pro69=) rs772979401 0.00002
NM_000824.5(GLRB):c.377A>T (p.Asp126Val) rs201218410 0.00002
NM_000824.5(GLRB):c.455A>G (p.Asn152Ser) rs374325111 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.7T>G (p.Phe3Val) rs914595544 0.00002
NM_000824.5(GLRB):c.844G>A (p.Val282Ile) rs938103926 0.00002
NM_000824.5(GLRB):c.873C>A (p.Asn291Lys) rs1736710455 0.00002
NM_000824.5(GLRB):c.904+13A>G rs752476441 0.00002
NM_000824.5(GLRB):c.904+3A>G rs751547530 0.00002
NM_000824.5(GLRB):c.95G>A (p.Gly32Glu) rs750870150 0.00002
NM_000824.5(GLRB):c.*1013A>T rs886059191 0.00001
NM_000824.5(GLRB):c.*1345A>G rs183788407 0.00001
NM_000824.5(GLRB):c.*162A>G rs528903429 0.00001
NM_000824.5(GLRB):c.*202T>C rs1419590838 0.00001
NM_000824.5(GLRB):c.*694T>C rs1275741229 0.00001
NM_000824.5(GLRB):c.1037A>G (p.Glu346Gly) rs758939135 0.00001
NM_000824.5(GLRB):c.1129G>T (p.Gly377Cys) rs1483255844 0.00001
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.1285G>A (p.Asp429Asn) rs1302907815 0.00001
NM_000824.5(GLRB):c.132A>C (p.Ser44=) rs778930746 0.00001
NM_000824.5(GLRB):c.1339G>A (p.Gly447Arg) rs765649743 0.00001
NM_000824.5(GLRB):c.1380C>T (p.Pro460=) rs548604111 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.1466A>G (p.Asn489Ser) rs964531745 0.00001
NM_000824.5(GLRB):c.149G>T (p.Arg50Leu) rs746978405 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.250G>A (p.Val84Ile) rs1223991119 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.307G>A (p.Val103Ile) rs1303450282 0.00001
NM_000824.5(GLRB):c.335A>T (p.Asn112Ile) rs1228266830 0.00001
NM_000824.5(GLRB):c.453C>G (p.Ala151=) rs372401049 0.00001
NM_000824.5(GLRB):c.481A>T (p.Ile161Phe) rs1306303890 0.00001
NM_000824.5(GLRB):c.511G>A (p.Val171Ile) rs138787100 0.00001
NM_000824.5(GLRB):c.610+7A>C rs758829852 0.00001
NM_000824.5(GLRB):c.627T>A (p.Asp209Glu) rs527904761 0.00001
NM_000824.5(GLRB):c.634C>T (p.Arg212Ter) rs373790643 0.00001
NM_000824.5(GLRB):c.653G>A (p.Gly218Glu) rs146321769 0.00001
NM_000824.5(GLRB):c.668T>C (p.Leu223Ser) rs761443255 0.00001
NM_000824.5(GLRB):c.692T>C (p.Phe231Ser) rs763516130 0.00001
NM_000824.5(GLRB):c.713T>C (p.Ile238Thr) rs752853387 0.00001
NM_000824.5(GLRB):c.722G>A (p.Gly241Asp) rs981353015 0.00001
NM_000824.5(GLRB):c.752-15G>A rs1297406909 0.00001
NM_000824.5(GLRB):c.766G>A (p.Val256Met) rs144334540 0.00001
NM_000824.5(GLRB):c.798C>T (p.Val266=) rs148773767 0.00001
NM_000824.5(GLRB):c.853T>G (p.Trp285Gly) rs368298200 0.00001
NM_000824.5(GLRB):c.914C>T (p.Ser305Leu) rs1024033857 0.00001
NM_000824.5(GLRB):c.97A>G (p.Lys33Glu) rs749901389 0.00001
NC_000004.11:g.(?_157999177)_(157999318_?)dup
NC_000004.11:g.(?_157999177)_(158043569_?)dup
NC_000004.11:g.(?_157999177)_(158091880_?)dup
NC_000004.11:g.(?_158057601)_(158074182_?)dup
NC_000004.11:g.(?_158091564)_(158091880_?)del
NC_000004.12:g.(?_157170412)_(157170748_?)del
NM_000824.4(GLRB):c.-182C>G rs574809389
NM_000824.4(GLRB):c.-182C>T rs574809389
NM_000824.4(GLRB):c.-212G>A rs576292950
NM_000824.5(GLRB):c.*334T>C rs188807631
NM_000824.5(GLRB):c.*750G>A rs1737920643
NM_000824.5(GLRB):c.*782T>C rs1737921837
NM_000824.5(GLRB):c.*787C>T rs573286942
NM_000824.5(GLRB):c.-89C>T rs1404847605
NM_000824.5(GLRB):c.1002T>G (p.Ile334Met)
NM_000824.5(GLRB):c.1004C>T (p.Ala335Val) rs2126602597
NM_000824.5(GLRB):c.1017T>G (p.Phe339Leu)
NM_000824.5(GLRB):c.1020G>A (p.Gly340=) rs1302379622
NM_000824.5(GLRB):c.1026T>C (p.Ala342=)
NM_000824.5(GLRB):c.1028C>T (p.Ser343Phe) rs1294827561
NM_000824.5(GLRB):c.1029C>T (p.Ser343=)
NM_000824.5(GLRB):c.1039T>G (p.Tyr347Asp)
NM_000824.5(GLRB):c.1067A>G (p.Asn356Ser)
NM_000824.5(GLRB):c.1070_1078del (p.Pro357_Val360delinsLeu)
NM_000824.5(GLRB):c.1074A>G (p.Lys358=)
NM_000824.5(GLRB):c.1077G>A (p.Arg359=)
NM_000824.5(GLRB):c.1081G>A (p.Glu361Lys) rs748518342
NM_000824.5(GLRB):c.1111G>A (p.Glu371Lys)
NM_000824.5(GLRB):c.1114C>T (p.Gln372Ter) rs770934436
NM_000824.5(GLRB):c.1172C>T (p.Thr391Ile) rs2126603042
NM_000824.5(GLRB):c.1177G>C (p.Val393Leu)
NM_000824.5(GLRB):c.1194G>T (p.Leu398Phe) rs1579244595
NM_000824.5(GLRB):c.1197+14T>C
NM_000824.5(GLRB):c.1197+14_1197+16del
NM_000824.5(GLRB):c.1197+4A>T rs1007979267
NM_000824.5(GLRB):c.1197+5G>T
NM_000824.5(GLRB):c.1198-12A>G
NM_000824.5(GLRB):c.1198-14A>G
NM_000824.5(GLRB):c.1198-15A>T rs2126637455
NM_000824.5(GLRB):c.1198-1G>A
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.122+1G>A rs1579175843
NM_000824.5(GLRB):c.122+3A>G rs2126409223
NM_000824.5(GLRB):c.1221dup (p.Val408fs) rs746631259
NM_000824.5(GLRB):c.123-14TC[3] rs2126530317
NM_000824.5(GLRB):c.123-16_123-14del rs1735775884
NM_000824.5(GLRB):c.123-2A>G rs1415892964
NM_000824.5(GLRB):c.1245G>A (p.Leu415=)
NM_000824.5(GLRB):c.1248A>G (p.Arg416=)
NM_000824.5(GLRB):c.1271G>T (p.Gly424Val) rs2126637682
NM_000824.5(GLRB):c.1274G>A (p.Ser425Asn)
NM_000824.5(GLRB):c.127C>G (p.Gln43Glu) rs1296050660
NM_000824.5(GLRB):c.1281A>C (p.Pro427=)
NM_000824.5(GLRB):c.1285G>C (p.Asp429His) rs1302907815
NM_000824.5(GLRB):c.1286A>G (p.Asp429Gly)
NM_000824.5(GLRB):c.1294C>A (p.Leu432Ile)
NM_000824.5(GLRB):c.1318A>C (p.Lys440Gln)
NM_000824.5(GLRB):c.1324A>G (p.Ile442Val)
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.1365CAA[1] (p.Asn456del) rs373895476
NM_000824.5(GLRB):c.1371G>C (p.Lys457Asn) rs2126637895
NM_000824.5(GLRB):c.1375C>G (p.Pro459Ala) rs1737883762
NM_000824.5(GLRB):c.1378C>T (p.Pro460Ser)
NM_000824.5(GLRB):c.1380_1382del (p.Pro461del) rs1324660332
NM_000824.5(GLRB):c.1381C>A (p.Pro461Thr) rs749199686
NM_000824.5(GLRB):c.1385C>G (p.Ala462Gly) rs148031091
NM_000824.5(GLRB):c.1385C>T (p.Ala462Val) rs148031091
NM_000824.5(GLRB):c.1389A>G (p.Lys463=)
NM_000824.5(GLRB):c.1390C>A (p.Pro464Thr) rs2126637962
NM_000824.5(GLRB):c.1399C>T (p.Pro467Ser) rs1312932259
NM_000824.5(GLRB):c.1405G>A (p.Ala469Thr)
NM_000824.5(GLRB):c.1410A>G (p.Ala470=)
NM_000824.5(GLRB):c.1414C>T (p.Arg472Ter)
NM_000824.5(GLRB):c.1417A>G (p.Ile473Val)
NM_000824.5(GLRB):c.1424T>C (p.Leu475Pro)
NM_000824.5(GLRB):c.1428T>A (p.Tyr476Ter) rs763395384
NM_000824.5(GLRB):c.1431_1452dup (p.Phe485fs) rs948239172
NM_000824.5(GLRB):c.1448del (p.Phe483fs) rs2126638125
NM_000824.5(GLRB):c.144T>A (p.Leu48=) rs2126530450
NM_000824.5(GLRB):c.1452C>T (p.Cys484=)
NM_000824.5(GLRB):c.1456T>G (p.Leu486Val) rs2126638141
NM_000824.5(GLRB):c.1468_1470del (p.Val490del)
NM_000824.5(GLRB):c.1473A>T (p.Ile491=)
NM_000824.5(GLRB):c.1478G>C (p.Trp493Ser)
NM_000824.5(GLRB):c.1479G>T (p.Trp493Cys) rs2126638209
NM_000824.5(GLRB):c.149G>A (p.Arg50Gln) rs746978405
NM_000824.5(GLRB):c.15G>A (p.Leu5=)
NM_000824.5(GLRB):c.186_197del (p.Arg62_Val65del)
NM_000824.5(GLRB):c.190T>C (p.Leu64=)
NM_000824.5(GLRB):c.212T>G (p.Ile71Arg) rs2126530646
NM_000824.5(GLRB):c.215G>A (p.Arg72Lys)
NM_000824.5(GLRB):c.226A>C (p.Lys76Gln) rs1735782307
NM_000824.5(GLRB):c.228A>G (p.Lys76=)
NM_000824.5(GLRB):c.229+12C>T
NM_000824.5(GLRB):c.229G>C (p.Gly77Arg)
NM_000824.5(GLRB):c.22G>C (p.Ala8Pro)
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.242A>G (p.Asp81Gly) rs748982851
NM_000824.5(GLRB):c.242A>T (p.Asp81Val)
NM_000824.5(GLRB):c.24del (p.Phe9_Leu10insTer) rs1380139789
NM_000824.5(GLRB):c.252C>G (p.Val84=)
NM_000824.5(GLRB):c.255C>T (p.Asn85=)
NM_000824.5(GLRB):c.272T>C (p.Phe91Ser) rs2126534815
NM_000824.5(GLRB):c.281_282delinsGC (p.Ile94Ser)
NM_000824.5(GLRB):c.284A>G (p.Gln95Arg)
NM_000824.5(GLRB):c.290C>T (p.Thr97Ile)
NM_000824.5(GLRB):c.297+12A>G
NM_000824.5(GLRB):c.297+17T>C
NM_000824.5(GLRB):c.297+1G>T rs771465893
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.298-7dup
NM_000824.5(GLRB):c.323G>C (p.Arg108Thr) rs2126565958
NM_000824.5(GLRB):c.325C>A (p.Gln109Lys) rs1736404014
NM_000824.5(GLRB):c.331T>C (p.Trp111Arg) rs2126565988
NM_000824.5(GLRB):c.344G>T (p.Arg115Met)
NM_000824.5(GLRB):c.34T>G (p.Leu12Val) rs1734101642
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.371del (p.Gly124fs) rs2126566107
NM_000824.5(GLRB):c.409T>C (p.Cys137Arg)
NM_000824.5(GLRB):c.415T>A (p.Trp139Arg)
NM_000824.5(GLRB):c.420A>G (p.Lys140=)
NM_000824.5(GLRB):c.436G>A (p.Ala146Thr)
NM_000824.5(GLRB):c.441T>C (p.Asn147=)
NM_000824.5(GLRB):c.444A>G (p.Glu148=)
NM_000824.5(GLRB):c.448dup (p.Ser150fs) rs1560962569
NM_000824.5(GLRB):c.449del (p.Ser150fs)
NM_000824.5(GLRB):c.451G>A (p.Ala151Thr)
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.472del (p.Gln158fs) rs1560962636
NM_000824.5(GLRB):c.480C>T (p.Asn160=)
NM_000824.5(GLRB):c.482T>A (p.Ile161Asn)
NM_000824.5(GLRB):c.489C>G (p.Leu163=)
NM_000824.5(GLRB):c.49G>A (p.Val17Met) rs760529205
NM_000824.5(GLRB):c.49G>T (p.Val17Leu)
NM_000824.5(GLRB):c.500G>T (p.Arg167Leu)
NM_000824.5(GLRB):c.523A>C (p.Met175Leu)
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.538A>G (p.Thr180Ala) rs2126567060
NM_000824.5(GLRB):c.540T>G (p.Thr180=)
NM_000824.5(GLRB):c.541C>G (p.Leu181Val) rs1736421231
NM_000824.5(GLRB):c.544T>C (p.Ser182Pro) rs2126567087
NM_000824.5(GLRB):c.54A>G (p.Glu18=)
NM_000824.5(GLRB):c.551C>T (p.Pro184Leu)
NM_000824.5(GLRB):c.564A>T (p.Thr188=)
NM_000824.5(GLRB):c.565T>C (p.Leu189=) rs2126567165
NM_000824.5(GLRB):c.567G>C (p.Leu189Phe) rs752345500
NM_000824.5(GLRB):c.567G>T (p.Leu189Phe) rs752345500
NM_000824.5(GLRB):c.573C>T (p.Pro191=)
NM_000824.5(GLRB):c.586C>T (p.Arg196Cys) rs975522417
NM_000824.5(GLRB):c.596T>G (p.Met199Arg) rs398122856
NM_000824.5(GLRB):c.59C>T (p.Ala20Val) rs2126408955
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.610+4C>T
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.613G>A (p.Gly205Ser)
NM_000824.5(GLRB):c.618C>G (p.Tyr206Ter)
NM_000824.5(GLRB):c.619A>G (p.Thr207Ala)
NM_000824.5(GLRB):c.620C>T (p.Thr207Ile)
NM_000824.5(GLRB):c.621A>G (p.Thr207=)
NM_000824.5(GLRB):c.648G>A (p.Gln216=) rs2126571916
NM_000824.5(GLRB):c.655G>A (p.Asp219Asn)
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.695A>G (p.Asp232Gly)
NM_000824.5(GLRB):c.697A>G (p.Ile233Val)
NM_000824.5(GLRB):c.698T>C (p.Ile233Thr)
NM_000824.5(GLRB):c.6G>A (p.Lys2=)
NM_000824.5(GLRB):c.701A>G (p.Lys234Arg)
NM_000824.5(GLRB):c.704del (p.Lys235fs)
NM_000824.5(GLRB):c.718T>C (p.Tyr240His)
NM_000824.5(GLRB):c.719A>G (p.Tyr240Cys) rs2126572276
NM_000824.5(GLRB):c.741T>C (p.Tyr247=)
NM_000824.5(GLRB):c.745G>A (p.Gly249Ser) rs1174129188
NM_000824.5(GLRB):c.749C>G (p.Thr250Arg) rs968303695
NM_000824.5(GLRB):c.750G>C (p.Thr250=)
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.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.777C>A (p.Ile259=) rs2126583488
NM_000824.5(GLRB):c.782C>T (p.Thr261Ile) rs2126583509
NM_000824.5(GLRB):c.784C>G (p.Leu262Val)
NM_000824.5(GLRB):c.798_800delinsGATGATGGGGGT (p.Gly267delinsMetMetGlyVal) rs1553998291
NM_000824.5(GLRB):c.807C>T (p.Tyr269=)
NM_000824.5(GLRB):c.816G>T (p.Gly272=)
NM_000824.5(GLRB):c.831= (p.Thr277=)
NM_000824.5(GLRB):c.837C>G (p.Leu279=)
NM_000824.5(GLRB):c.841GTT[1] (p.Val282del)
NM_000824.5(GLRB):c.844G>T (p.Val282Phe)
NM_000824.5(GLRB):c.846T>C (p.Val282=) rs2126583832
NM_000824.5(GLRB):c.848T>C (p.Leu283Pro) rs1736709198
NM_000824.5(GLRB):c.849C>T (p.Leu283=)
NM_000824.5(GLRB):c.84del (p.Lys31fs)
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.881C>T (p.Ala294Val)
NM_000824.5(GLRB):c.8T>A (p.Phe3Tyr)
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.904+5G>T
NM_000824.5(GLRB):c.904G>A (p.Gly302Ser)
NM_000824.5(GLRB):c.905-16C>T
NM_000824.5(GLRB):c.905-3T>C
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.931T>C (p.Ser311Pro)
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.961C>T (p.Pro321Ser) rs1737073395
NM_000824.5(GLRB):c.96G>A (p.Gly32=)
NM_000824.5(GLRB):c.974A>G (p.Tyr325Cys)

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.