ClinVar Miner

List of variants in gene GLRB studied for metabolic disease involving other neurotransmitter deficiency

Included ClinVar conditions (8):
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 0.97993
NM_000824.5(GLRB):c.297+10C>T rs41280501 0.42262
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 0.16535
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 0.04872
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 0.01371
NM_000824.5(GLRB):c.611-14G>A rs11936411 0.01234
NM_000824.5(GLRB):c.-69C>T rs3822159 0.00773
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 0.00158
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.1198-16C>A rs78670342 0.00060
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.185G>A (p.Arg62Lys) rs144279427 0.00041
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.*334T>C rs188807631 0.00027
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.627T>A (p.Asp209Glu) rs527904761 0.00013
NM_000824.5(GLRB):c.92A>G (p.Lys31Arg) rs149863285 0.00012
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.624T>C (p.Thr208=) rs200824493 0.00009
NM_000824.5(GLRB):c.313A>G (p.Ile105Val) rs529837532 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.610+18T>A rs747212960 0.00007
NM_000824.5(GLRB):c.1290T>C (p.Phe430=) rs767042497 0.00006
NM_000824.5(GLRB):c.52G>A (p.Glu18Lys) rs547823780 0.00006
NM_000824.5(GLRB):c.905-15T>C rs759530266 0.00006
NM_000824.5(GLRB):c.1044A>G (p.Ala348=) rs139165593 0.00005
NM_000824.5(GLRB):c.1054G>A (p.Val352Met) rs764867861 0.00005
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.298-13A>C rs371129516 0.00005
NM_000824.5(GLRB):c.298-6del rs774738353 0.00005
NM_000824.5(GLRB):c.496T>C (p.Phe166Leu) rs368748559 0.00005
NM_000824.5(GLRB):c.610+4C>T rs779156561 0.00005
NM_000824.5(GLRB):c.816G>A (p.Gly272=) rs1055997635 0.00005
NM_000824.5(GLRB):c.882G>A (p.Ala294=) rs376097077 0.00005
NM_000824.5(GLRB):c.952G>A (p.Ala318Thr) rs750803516 0.00005
NM_000824.5(GLRB):c.1213T>G (p.Cys405Gly) rs780143117 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.423T>C (p.Pro141=) rs145564477 0.00004
NM_000824.5(GLRB):c.587G>A (p.Arg196His) rs141976916 0.00004
NM_000824.5(GLRB):c.*162A>G rs528903429 0.00003
NM_000824.5(GLRB):c.1254T>G (p.Asn418Lys) rs373002083 0.00003
NM_000824.5(GLRB):c.1293A>G (p.Glu431=) rs376189752 0.00003
NM_000824.5(GLRB):c.1342C>T (p.Leu448Phe) rs750707925 0.00003
NM_000824.5(GLRB):c.298-20C>T rs779389511 0.00003
NM_000824.5(GLRB):c.37A>G (p.Ile13Val) rs771937343 0.00003
NM_000824.5(GLRB):c.415T>C (p.Trp139Arg) rs143539995 0.00003
NM_000824.5(GLRB):c.441T>C (p.Asn147=) rs368153453 0.00003
NM_000824.5(GLRB):c.444A>G (p.Glu148=) rs759588342 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.613G>A (p.Gly205Ser) rs542004168 0.00003
NM_000824.5(GLRB):c.751+5G>A rs779826547 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.205C>T (p.Pro69Ser) rs555010961 0.00002
NM_000824.5(GLRB):c.344G>T (p.Arg115Met) rs764190780 0.00002
NM_000824.5(GLRB):c.377A>T (p.Asp126Val) rs201218410 0.00002
NM_000824.5(GLRB):c.436G>A (p.Ala146Thr) rs374744833 0.00002
NM_000824.5(GLRB):c.449del (p.Ser150fs) rs768063841 0.00002
NM_000824.5(GLRB):c.453C>G (p.Ala151=) rs372401049 0.00002
NM_000824.5(GLRB):c.455A>G (p.Asn152Ser) rs374325111 0.00002
NM_000824.5(GLRB):c.586C>T (p.Arg196Cys) rs975522417 0.00002
NM_000824.5(GLRB):c.698T>C (p.Ile233Thr) rs546246853 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.879C>T (p.Asp293=) rs201323247 0.00002
NM_000824.5(GLRB):c.8T>A (p.Phe3Tyr) rs777881883 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.929C>T (p.Ala310Val) rs745430765 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.*202T>C rs1419590838 0.00001
NM_000824.5(GLRB):c.*516G>A rs886059189 0.00001
NM_000824.5(GLRB):c.*694T>C rs1275741229 0.00001
NM_000824.5(GLRB):c.1002T>G (p.Ile334Met) rs760636363 0.00001
NM_000824.5(GLRB):c.1037A>G (p.Glu346Gly) rs758939135 0.00001
NM_000824.5(GLRB):c.1067A>G (p.Asn356Ser) rs543764621 0.00001
NM_000824.5(GLRB):c.1111G>A (p.Glu371Lys) rs1355064370 0.00001
NM_000824.5(GLRB):c.1129G>T (p.Gly377Cys) rs1483255844 0.00001
NM_000824.5(GLRB):c.1197+5G>T rs779269211 0.00001
NM_000824.5(GLRB):c.1198-14A>G rs1461143263 0.00001
NM_000824.5(GLRB):c.122+16C>G rs757320151 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.1294C>A (p.Leu432Ile) rs1242994016 0.00001
NM_000824.5(GLRB):c.1324A>G (p.Ile442Val) rs764733822 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.1417A>G (p.Ile473Val) rs1737886459 0.00001
NM_000824.5(GLRB):c.1424T>C (p.Leu475Pro) rs1164138560 0.00001
NM_000824.5(GLRB):c.1452C>T (p.Cys484=) rs1395485724 0.00001
NM_000824.5(GLRB):c.1466A>G (p.Asn489Ser) rs964531745 0.00001
NM_000824.5(GLRB):c.1479G>T (p.Trp493Cys) rs2126638209 0.00001
NM_000824.5(GLRB):c.149G>T (p.Arg50Leu) rs746978405 0.00001
NM_000824.5(GLRB):c.190T>C (p.Leu64=) rs1423101445 0.00001
NM_000824.5(GLRB):c.210G>A (p.Arg70=) rs1440659826 0.00001
NM_000824.5(GLRB):c.228A>G (p.Lys76=) rs1414378115 0.00001
NM_000824.5(GLRB):c.229+15T>C rs761155149 0.00001
NM_000824.5(GLRB):c.22G>C (p.Ala8Pro) rs139961228 0.00001
NM_000824.5(GLRB):c.230-14A>T rs144217585 0.00001
NM_000824.5(GLRB):c.230-17T>A rs993141573 0.00001
NM_000824.5(GLRB):c.242A>T (p.Asp81Val) rs748982851 0.00001
NM_000824.5(GLRB):c.250G>A (p.Val84Ile) rs1223991119 0.00001
NM_000824.5(GLRB):c.297+1G>T rs771465893 0.00001
NM_000824.5(GLRB):c.297+7T>C rs769096368 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.480C>T (p.Asn160=) rs150169122 0.00001
NM_000824.5(GLRB):c.481A>T (p.Ile161Phe) rs1306303890 0.00001
NM_000824.5(GLRB):c.489C>G (p.Leu163=) rs780650824 0.00001
NM_000824.5(GLRB):c.511G>A (p.Val171Ile) rs138787100 0.00001
NM_000824.5(GLRB):c.528-18A>G rs1371794111 0.00001
NM_000824.5(GLRB):c.60C>T (p.Ala20=) rs1372760957 0.00001
NM_000824.5(GLRB):c.610+15A>T rs2126567322 0.00001
NM_000824.5(GLRB):c.610+7A>C rs758829852 0.00001
NM_000824.5(GLRB):c.619A>G (p.Thr207Ala) rs1736503955 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.66T>C (p.Ser22=) rs1169633348 0.00001
NM_000824.5(GLRB):c.690A>G (p.Gln230=) rs967248525 0.00001
NM_000824.5(GLRB):c.692T>C (p.Phe231Ser) rs763516130 0.00001
NM_000824.5(GLRB):c.695A>G (p.Asp232Gly) rs1736508797 0.00001
NM_000824.5(GLRB):c.701A>G (p.Lys234Arg) rs199963290 0.00001
NM_000824.5(GLRB):c.713T>C (p.Ile238Thr) rs752853387 0.00001
NM_000824.5(GLRB):c.718T>C (p.Tyr240His) rs377123223 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.807C>T (p.Tyr269=) rs1021238246 0.00001
NM_000824.5(GLRB):c.853T>G (p.Trp285Gly) rs368298200 0.00001
NM_000824.5(GLRB):c.876G>A (p.Pro292=) rs775656621 0.00001
NM_000824.5(GLRB):c.881C>T (p.Ala294Val) rs1240723923 0.00001
NM_000824.5(GLRB):c.904+15G>A rs1413234319 0.00001
NM_000824.5(GLRB):c.905-3T>C rs756010168 0.00001
NM_000824.5(GLRB):c.914C>T (p.Ser305Leu) rs1024033857 0.00001
NM_000824.5(GLRB):c.974A>G (p.Tyr325Cys) rs1737073827 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.*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.1004C>T (p.Ala335Val) rs2126602597
NM_000824.5(GLRB):c.1017T>G (p.Phe339Leu) rs2530110086
NM_000824.5(GLRB):c.1020G>A (p.Gly340=) rs1302379622
NM_000824.5(GLRB):c.1026T>C (p.Ala342=) rs1737075908
NM_000824.5(GLRB):c.1028C>T (p.Ser343Phe) rs1294827561
NM_000824.5(GLRB):c.1029C>T (p.Ser343=) rs1362969418
NM_000824.5(GLRB):c.1039T>G (p.Tyr347Asp) rs1229917921
NM_000824.5(GLRB):c.1070_1078del (p.Pro357_Val360delinsLeu) rs1205039740
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.1114C>T (p.Gln372Ter) rs770934436
NM_000824.5(GLRB):c.1172C>T (p.Thr391Ile) rs2126603042
NM_000824.5(GLRB):c.1177G>C (p.Val393Leu) rs756482232
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.1198-12A>G
NM_000824.5(GLRB):c.1198-15A>T rs2126637455
NM_000824.5(GLRB):c.1198-1G>A rs754290626
NM_000824.5(GLRB):c.1198-4T>C
NM_000824.5(GLRB):c.1198-5C>T rs2530169572
NM_000824.5(GLRB):c.122+12A>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=) rs2530169961
NM_000824.5(GLRB):c.1248A>G (p.Arg416=) rs773009537
NM_000824.5(GLRB):c.1271G>T (p.Gly424Val) rs2126637682
NM_000824.5(GLRB):c.1274G>A (p.Ser425Asn) rs201031600
NM_000824.5(GLRB):c.127C>G (p.Gln43Glu) rs1296050660
NM_000824.5(GLRB):c.1281A>C (p.Pro427=) rs759137052
NM_000824.5(GLRB):c.1285G>C (p.Asp429His) rs1302907815
NM_000824.5(GLRB):c.1286A>G (p.Asp429Gly) rs2530170149
NM_000824.5(GLRB):c.1318A>C (p.Lys440Gln) rs2530170387
NM_000824.5(GLRB):c.1347G>A (p.Gly449=) rs2530170551
NM_000824.5(GLRB):c.1353T>C (p.Ser451=) rs1391540906
NM_000824.5(GLRB):c.1359T>C (p.Ala453=) rs2530170602
NM_000824.5(GLRB):c.135A>G (p.Ala45=) rs1735777166
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) rs755007714
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=) rs775006027
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) rs2530170916
NM_000824.5(GLRB):c.1410A>G (p.Ala470=) rs2530170931
NM_000824.5(GLRB):c.1414C>T (p.Arg472Ter) rs570886685
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.1456T>G (p.Leu486Val) rs2126638141
NM_000824.5(GLRB):c.1468_1470del (p.Val490del) rs1737889731
NM_000824.5(GLRB):c.1473A>T (p.Ile491=)
NM_000824.5(GLRB):c.1478G>C (p.Trp493Ser) rs1226476075
NM_000824.5(GLRB):c.149G>A (p.Arg50Gln) rs746978405
NM_000824.5(GLRB):c.15G>A (p.Leu5=) rs1734100514
NM_000824.5(GLRB):c.186_197del (p.Arg62_Val65del) rs1212784259
NM_000824.5(GLRB):c.207C>G (p.Pro69=) rs772979401
NM_000824.5(GLRB):c.212T>G (p.Ile71Arg) rs2126530646
NM_000824.5(GLRB):c.215G>A (p.Arg72Lys) rs2530019545
NM_000824.5(GLRB):c.226A>C (p.Lys76Gln) rs1735782307
NM_000824.5(GLRB):c.229+12C>T rs767998783
NM_000824.5(GLRB):c.229G>C (p.Gly77Arg) rs1735782597
NM_000824.5(GLRB):c.230-12T>A rs1735855424
NM_000824.5(GLRB):c.230-14A>C rs144217585
NM_000824.5(GLRB):c.230-17T>C
NM_000824.5(GLRB):c.230-20T>A rs1468074626
NM_000824.5(GLRB):c.242A>G (p.Asp81Gly) rs748982851
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=) rs2530025769
NM_000824.5(GLRB):c.272T>C (p.Phe91Ser) rs2126534815
NM_000824.5(GLRB):c.281_282delinsGC (p.Ile94Ser) rs2530025917
NM_000824.5(GLRB):c.284A>G (p.Gln95Arg) rs2530025943
NM_000824.5(GLRB):c.290C>T (p.Thr97Ile) rs2530025978
NM_000824.5(GLRB):c.297+12A>G
NM_000824.5(GLRB):c.297+17T>C
NM_000824.5(GLRB):c.298-15G>T
NM_000824.5(GLRB):c.298-16T>C rs762232238
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 rs1736402342
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.34T>G (p.Leu12Val) rs1734101642
NM_000824.5(GLRB):c.354C>T (p.Leu118=) rs2530061003
NM_000824.5(GLRB):c.366T>C (p.Phe122=) rs1475665179
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) rs2530061335
NM_000824.5(GLRB):c.415T>A (p.Trp139Arg) rs143539995
NM_000824.5(GLRB):c.420A>G (p.Lys140=) rs773528393
NM_000824.5(GLRB):c.448dup (p.Ser150fs) rs1560962569
NM_000824.5(GLRB):c.451G>A (p.Ala151Thr) rs1560962599
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.482T>A (p.Ile161Asn) rs2530061758
NM_000824.5(GLRB):c.49G>A (p.Val17Met) rs760529205
NM_000824.5(GLRB):c.49G>T (p.Val17Leu) rs760529205
NM_000824.5(GLRB):c.500G>T (p.Arg167Leu) rs200253694
NM_000824.5(GLRB):c.523A>C (p.Met175Leu) rs1462035702
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 rs2530062535
NM_000824.5(GLRB):c.528-12T>G rs2530062535
NM_000824.5(GLRB):c.528-17C>T rs747151663
NM_000824.5(GLRB):c.528-8G>A rs373584684
NM_000824.5(GLRB):c.528-8G>T rs373584684
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=) rs770664655
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=) rs11552656
NM_000824.5(GLRB):c.551C>T (p.Pro184Leu) rs1219757029
NM_000824.5(GLRB):c.564A>T (p.Thr188=) rs1270655277
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=) rs1260090037
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.610+17A>C rs1298289296
NM_000824.5(GLRB):c.610+17A>G
NM_000824.5(GLRB):c.610+26_610+27insTTGAAATGAGAACATAATTGATT rs2530063212
NM_000824.5(GLRB):c.611-10T>C rs2530068394
NM_000824.5(GLRB):c.611-14G>T rs11936411
NM_000824.5(GLRB):c.611-18A>G
NM_000824.5(GLRB):c.618C>G (p.Tyr206Ter) rs2530068462
NM_000824.5(GLRB):c.620C>T (p.Thr207Ile) rs1736504074
NM_000824.5(GLRB):c.621A>G (p.Thr207=) rs748194679
NM_000824.5(GLRB):c.648G>A (p.Gln216=) rs2126571916
NM_000824.5(GLRB):c.655G>A (p.Asp219Asn) rs2530068662
NM_000824.5(GLRB):c.684G>A (p.Leu228=) rs2530068828
NM_000824.5(GLRB):c.693T>C (p.Phe231=) rs2530068867
NM_000824.5(GLRB):c.697A>G (p.Ile233Val) rs2530068902
NM_000824.5(GLRB):c.6G>A (p.Lys2=) rs2531234576
NM_000824.5(GLRB):c.704del (p.Lys235fs) rs2530068914
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 rs1344006346
NM_000824.5(GLRB):c.751+14T>C rs2530069231
NM_000824.5(GLRB):c.752-13T>C rs2126583381
NM_000824.5(GLRB):c.752-4A>G rs1736703085
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) rs2530082632
NM_000824.5(GLRB):c.798_800delinsGATGATGGGGGT (p.Gly267delinsMetMetGlyVal) rs1553998291
NM_000824.5(GLRB):c.816G>T (p.Gly272=) rs1055997635
NM_000824.5(GLRB):c.831= (p.Thr277=)
NM_000824.5(GLRB):c.837C>G (p.Leu279=) rs1328881353
NM_000824.5(GLRB):c.841GTT[1] (p.Val282del) rs2530083081
NM_000824.5(GLRB):c.844G>T (p.Val282Phe) rs938103926
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=) rs1245752939
NM_000824.5(GLRB):c.84del (p.Lys31fs) rs2531235100
NM_000824.5(GLRB):c.861C>T (p.Ser287=)
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) rs2530083455
NM_000824.5(GLRB):c.905-16C>T rs773097687
NM_000824.5(GLRB):c.909C>T (p.Ile303=) rs924484849
NM_000824.5(GLRB):c.918C>T (p.Val306=) rs371734005
NM_000824.5(GLRB):c.924C>T (p.Ser308=) rs2530109479
NM_000824.5(GLRB):c.930C>T (p.Ala310=) rs2530109510
NM_000824.5(GLRB):c.931T>C (p.Ser311Pro) rs2530109516
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=) rs2531235188

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