ClinVar Miner

List of variants in gene GLA, RPL36A-HNRNPH2 studied for abdominal and pelvic region disorder

Included ClinVar conditions (902):
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Gene type:
ClinVar version:
Total variants: 223
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HGVS dbSNP
NC_000023.10:g.(?_100658779)_(100658993_?)del
NM_000169.2(GLA):c.-105A>G rs3027583
NM_000169.2(GLA):c.-10C>T rs2071225
NM_000169.2(GLA):c.-125T>G rs185255090
NM_000169.2(GLA):c.-12G>A rs3027585
NM_000169.2(GLA):c.-30G>A rs3027584
NM_000169.2(GLA):c.-8C>G rs371291716
NM_000169.2(GLA):c.1007A>C (p.Asn336Thr) rs1569302786
NM_000169.2(GLA):c.1017_1027del (p.Trp340fs)
NM_000169.2(GLA):c.101A>G (p.Asn34Ser) rs104894835
NM_000169.2(GLA):c.1020G>A (p.Trp340Ter) rs104894842
NM_000169.2(GLA):c.1021G>A (p.Glu341Lys) rs869312214
NM_000169.2(GLA):c.1021G>T (p.Glu341Ter) rs869312214
NM_000169.2(GLA):c.1024C>T (p.Arg342Ter) rs104894843
NM_000169.2(GLA):c.1025G>A (p.Arg342Gln) rs28935493
NM_000169.2(GLA):c.1029_1030TC[2] (p.Ser345fs) rs398123198
NM_000169.2(GLA):c.104G>A (p.Gly35Glu) rs869312137
NM_000169.2(GLA):c.1055C>G (p.Ala352Gly) rs869312162
NM_000169.2(GLA):c.1055_1056del (p.Ala352fs) rs1555984840
NM_000169.2(GLA):c.1057_1058del (p.Met353fs) rs886044829
NM_000169.2(GLA):c.1062_1076del (p.Asn355_Ile359del) rs1569302697
NM_000169.2(GLA):c.1066C>T (p.Arg356Trp) rs104894827
NM_000169.2(GLA):c.1067G>A (p.Arg356Gln) rs869312163
NM_000169.2(GLA):c.1067G>C (p.Arg356Pro) rs869312163
NM_000169.2(GLA):c.1072_1074del (p.Glu358del) rs730880453
NM_000169.2(GLA):c.107T>G (p.Leu36Trp) rs869312138
NM_000169.2(GLA):c.1081G>C (p.Gly361Arg) rs28935494
NM_000169.2(GLA):c.1088G>A (p.Arg363His) rs111422676
NM_000169.2(GLA):c.1095T>A (p.Tyr365Ter) rs104894849
NM_000169.2(GLA):c.109G>C (p.Ala37Pro)
NM_000169.2(GLA):c.1102G>A (p.Ala368Thr) rs144994244
NM_000169.2(GLA):c.1102G>C (p.Ala368Pro) rs144994244
NM_000169.2(GLA):c.1117G>A (p.Gly373Ser) rs727504348
NM_000169.2(GLA):c.1124G>C (p.Gly375Ala) rs869312164
NM_000169.2(GLA):c.1124_1176del (p.Gly375fs)
NM_000169.2(GLA):c.1125_1140del (p.Val376fs) rs876661347
NM_000169.2(GLA):c.1147_1149del (p.Phe383del) rs1057519609
NM_000169.2(GLA):c.1153A>G (p.Thr385Ala) rs397515869
NM_000169.2(GLA):c.1157A>C (p.Gln386Pro) rs797044775
NM_000169.2(GLA):c.1175G>C (p.Arg392Thr) rs782756052
NM_000169.2(GLA):c.1176G>T (p.Arg392Ser) rs869312165
NM_000169.2(GLA):c.1184G>C (p.Gly395Ala) rs375661583
NM_000169.2(GLA):c.118C>T (p.Pro40Ser) rs104894831
NM_000169.2(GLA):c.1192G>T (p.Glu398Ter) rs104894844
NM_000169.2(GLA):c.1196G>C (p.Trp399Ser) rs782449839
NM_000169.2(GLA):c.119C>T (p.Pro40Leu) rs398123199
NM_000169.2(GLA):c.11G>T (p.Arg4Met) rs1569306260
NM_000169.2(GLA):c.1209_1211AAG[1] (p.Arg404del)
NM_000169.2(GLA):c.1225C>G (p.Pro409Ala) rs878853698
NM_000169.2(GLA):c.1225C>T (p.Pro409Ser) rs878853698
NM_000169.2(GLA):c.1228A>G (p.Thr410Ala) rs104894852
NM_000169.2(GLA):c.1229C>T (p.Thr410Ile) rs730880442
NM_000169.2(GLA):c.1235_1236del (p.Thr412fs) rs797044777
NM_000169.2(GLA):c.123C>T (p.Thr41=) rs137902198
NM_000169.2(GLA):c.1244T>C (p.Leu415Pro) rs112341092
NM_000169.2(GLA):c.124A>C (p.Met42Leu) rs797044613
NM_000169.2(GLA):c.1256A>T (p.Asn419Ile) rs1060500749
NM_000169.2(GLA):c.125T>C (p.Met42Thr) rs398123201
NM_000169.2(GLA):c.125_137del (p.Met42fs)
NM_000169.2(GLA):c.1277_1278del (p.Lys426fs)
NM_000169.2(GLA):c.1280_1283ACTT[1] (p.Leu428fs)
NM_000169.2(GLA):c.129C>T (p.Gly43=) rs146177035
NM_000169.2(GLA):c.131G>A (p.Trp44Ter) rs104894829
NM_000169.2(GLA):c.141G>C (p.Trp47Cys) rs1555987101
NM_000169.2(GLA):c.151A>C (p.Met51Leu) rs1569306069
NM_000169.2(GLA):c.166T>G (p.Cys56Gly) rs104894836
NM_000169.2(GLA):c.185C>T (p.Ser62Phe)
NM_000169.2(GLA):c.190A>T (p.Ile64Phe) rs869312139
NM_000169.2(GLA):c.194G>C (p.Ser65Thr) rs104894848
NM_000169.2(GLA):c.195-1G>T rs398123206
NM_000169.2(GLA):c.196G>C (p.Glu66Gln) rs104894833
NM_000169.2(GLA):c.212A>G (p.Glu71Gly) rs781927744
NM_000169.2(GLA):c.239G>A (p.Gly80Asp) rs781838005
NM_000169.2(GLA):c.244A>T (p.Lys82Ter) rs1057516429
NM_000169.2(GLA):c.247G>A (p.Asp83Asn) rs782722577
NM_000169.2(GLA):c.256T>C (p.Tyr86His) rs869312140
NM_000169.2(GLA):c.265C>T (p.Leu89Phe) rs1555986305
NM_000169.2(GLA):c.266T>G (p.Leu89Arg) rs1569304886
NM_000169.2(GLA):c.26del (p.His9fs) rs1555987215
NM_000169.2(GLA):c.272T>A (p.Ile91Asn) rs869312141
NM_000169.2(GLA):c.290C>T (p.Ala97Val) rs1569304867
NM_000169.2(GLA):c.2T>C (p.Met1Thr) rs1555987232
NM_000169.2(GLA):c.307G>T (p.Glu103Ter) rs1569304851
NM_000169.2(GLA):c.334C>T (p.Arg112Cys) rs104894834
NM_000169.2(GLA):c.335G>A (p.Arg112His) rs372966991
NM_000169.2(GLA):c.337T>A (p.Phe113Ile) rs869312142
NM_000169.2(GLA):c.33C>T (p.Gly11=) rs781856890
NM_000169.2(GLA):c.352C>T (p.Arg118Cys) rs148158093
NM_000169.2(GLA):c.361G>A (p.Ala121Thr) rs782197638
NM_000169.2(GLA):c.369+2T>G rs387906483
NM_000169.2(GLA):c.369T>C (p.Tyr123=) rs869312282
NM_000169.2(GLA):c.376A>G (p.Ser126Gly) rs149391489
NM_000169.2(GLA):c.386T>C (p.Leu129Pro) rs727503072
NM_000169.2(GLA):c.402T>C (p.Tyr134=) rs1183869568
NM_000169.2(GLA):c.404C>T (p.Ala135Val) rs1569304221
NM_000169.2(GLA):c.416A>G (p.Asn139Ser) rs138886989
NM_000169.2(GLA):c.422C>T (p.Thr141Ile) rs886044843
NM_000169.2(GLA):c.427G>A (p.Ala143Thr) rs104894845
NM_000169.2(GLA):c.427G>C (p.Ala143Pro) rs104894845
NM_000169.2(GLA):c.436C>T (p.Pro146Ser) rs104894837
NM_000169.2(GLA):c.439G>A (p.Gly147Arg) rs1555985830
NM_000169.2(GLA):c.444T>G (p.Ser148Arg) rs1569304190
NM_000169.2(GLA):c.456C>A (p.Tyr152Ter) rs1555985827
NM_000169.2(GLA):c.457G>A (p.Asp153Asn) rs370299397
NM_000169.2(GLA):c.45_49GCTTC[1] (p.Arg17fs) rs869312316
NM_000169.2(GLA):c.461T>C (p.Ile154Thr) rs869312143
NM_000169.2(GLA):c.466G>A (p.Ala156Thr) rs28935195
NM_000169.2(GLA):c.476T>G (p.Phe159Cys) rs1555985814
NM_000169.2(GLA):c.484T>C (p.Trp162Arg) rs28935196
NM_000169.2(GLA):c.485G>A (p.Trp162Ter) rs727504350
NM_000169.2(GLA):c.48T>G (p.Leu16=) rs201449986
NM_000169.2(GLA):c.490G>T (p.Val164Leu) rs869312144
NM_000169.2(GLA):c.496_497delinsGG (p.Leu166Gly)
NM_000169.2(GLA):c.520T>C (p.Cys174Arg)
NM_000169.2(GLA):c.525C>G (p.Asp175Glu)
NM_000169.2(GLA):c.540G>T (p.Leu180Phe) rs869312145
NM_000169.2(GLA):c.561G>A (p.Met187Ile) rs869312146
NM_000169.2(GLA):c.588A>C (p.Arg196Ser) rs869312147
NM_000169.2(GLA):c.590G>A (p.Ser197Asn) rs201679091
NM_000169.2(GLA):c.591C>T (p.Ser197=) rs898606246
NM_000169.2(GLA):c.593T>C (p.Ile198Thr) rs727503950
NM_000169.2(GLA):c.59C>A (p.Ala20Asp) rs869312134
NM_000169.2(GLA):c.59_72dup (p.Asp25fs) rs1555987175
NM_000169.2(GLA):c.605G>A (p.Cys202Tyr) rs869312344
NM_000169.2(GLA):c.606T>G (p.Cys202Trp) rs104894838
NM_000169.2(GLA):c.610T>C (p.Trp204Arg) rs869312148
NM_000169.2(GLA):c.613C>A (p.Pro205Thr) rs397515870
NM_000169.2(GLA):c.614C>T (p.Pro205Leu) rs886044879
NM_000169.2(GLA):c.619T>C (p.Tyr207His) rs372416832
NM_000169.2(GLA):c.620A>C (p.Tyr207Ser)
NM_000169.2(GLA):c.62T>C (p.Leu21Pro) rs869312135
NM_000169.2(GLA):c.638A>G (p.Lys213Arg) rs869312149
NM_000169.2(GLA):c.639+919G>A rs199473684
NM_000169.2(GLA):c.640-11T>C rs782634293
NM_000169.2(GLA):c.640-1G>A
NM_000169.2(GLA):c.640-1delG rs1555985200
NM_000169.2(GLA):c.640-4A>C rs1060500748
NM_000169.2(GLA):c.641C>T (p.Pro214Leu) rs869312150
NM_000169.2(GLA):c.644A>G (p.Asn215Ser) rs28935197
NM_000169.2(GLA):c.647A>G (p.Tyr216Cys) rs398123217
NM_000169.2(GLA):c.657C>G (p.Ile219Met) rs869312151
NM_000169.2(GLA):c.658C>T (p.Arg220Ter) rs727503949
NM_000169.2(GLA):c.666C>A (p.Tyr222Ter) rs104894851
NM_000169.2(GLA):c.679C>T (p.Arg227Ter) rs104894841
NM_000169.2(GLA):c.680G>A (p.Arg227Gln) rs104894840
NM_000169.2(GLA):c.680G>C (p.Arg227Pro) rs104894840
NM_000169.2(GLA):c.683A>G (p.Asn228Ser) rs869312152
NM_000169.2(GLA):c.692A>C (p.Asp231Ala) rs1569303295
NM_000169.2(GLA):c.695T>C (p.Ile232Thr)
NM_000169.2(GLA):c.6G>A (p.Gln2=) rs782748047
NM_000169.2(GLA):c.707G>A (p.Trp236Ter) rs879254022
NM_000169.2(GLA):c.713G>A (p.Ser238Asn) rs730880450
NM_000169.2(GLA):c.714T>C (p.Ser238=) rs397515872
NM_000169.2(GLA):c.718_719del (p.Lys240fs) rs869312389
NM_000169.2(GLA):c.724A>G (p.Ile242Val) rs397515873
NM_000169.2(GLA):c.727T>A (p.Leu243Met) rs782453201
NM_000169.2(GLA):c.735G>A (p.Trp245Ter) rs1060500747
NM_000169.2(GLA):c.748C>A (p.Gln250Lys)
NM_000169.2(GLA):c.748C>T (p.Gln250Ter) rs398123221
NM_000169.2(GLA):c.749A>C (p.Gln250Pro) rs869312396
NM_000169.2(GLA):c.755G>C (p.Arg252Thr) rs147026639
NM_000169.2(GLA):c.758T>C (p.Ile253Thr) rs727505292
NM_000169.2(GLA):c.761T>C (p.Val254Ala) rs869312153
NM_000169.2(GLA):c.770C>T (p.Ala257Val) rs1569303218
NM_000169.2(GLA):c.776C>G (p.Pro259Arg) rs869312399
NM_000169.2(GLA):c.782G>T (p.Gly261Val) rs869312401
NM_000169.2(GLA):c.784T>C (p.Trp262Arg) rs869312154
NM_000169.2(GLA):c.786dup (p.Asn263fs) rs1555985091
NM_000169.2(GLA):c.790G>T (p.Asp264Tyr) rs190347120
NM_000169.2(GLA):c.791A>T (p.Asp264Val) rs28935486
NM_000169.2(GLA):c.797A>T (p.Asp266Val) rs28935487
NM_000169.2(GLA):c.7C>G (p.Leu3Val) rs869312133
NM_000169.2(GLA):c.801G>A (p.Met267Ile) rs730880451
NM_000169.2(GLA):c.802-2A>T rs797044499
NM_000169.2(GLA):c.802-3_804delinsGGCAACTTT rs727504773
NM_000169.2(GLA):c.805G>A (p.Val269Met) rs869312427
NM_000169.2(GLA):c.806T>C (p.Val269Ala) rs28935488
NM_000169.2(GLA):c.806T>G (p.Val269Gly) rs28935488
NM_000169.2(GLA):c.815A>G (p.Asn272Ser) rs28935495
NM_000169.2(GLA):c.823del (p.Leu275fs) rs869025435
NM_000169.2(GLA):c.826A>G (p.Ser276Gly)
NM_000169.2(GLA):c.828C>A (p.Ser276Arg) rs1555985010
NM_000169.2(GLA):c.830G>A (p.Trp277Ter) rs886044766
NM_000169.2(GLA):c.831G>C (p.Trp277Cys) rs782196174
NM_000169.2(GLA):c.848dup (p.Met284fs) rs1555985002
NM_000169.2(GLA):c.858C>T (p.Leu286=) rs869312428
NM_000169.2(GLA):c.85G>A (p.Ala29Thr)
NM_000169.2(GLA):c.85dup (p.Ala29fs) rs1569306181
NM_000169.2(GLA):c.861G>A (p.Trp287Ter) rs104894839
NM_000169.2(GLA):c.863del (p.Ala288fs) rs1569303030
NM_000169.2(GLA):c.865A>G (p.Ile289Val) rs140329381
NM_000169.2(GLA):c.868A>C (p.Met290Leu) rs375538532
NM_000169.2(GLA):c.874G>C (p.Ala292Pro) rs111812846
NM_000169.2(GLA):c.890C>T (p.Ser297Phe) rs28935489
NM_000169.2(GLA):c.899T>C (p.Leu300Pro) rs398123223
NM_000169.2(GLA):c.8T>C (p.Leu3Pro) rs150547672
NM_000169.2(GLA):c.901C>G (p.Arg301Gly) rs398123224
NM_000169.2(GLA):c.901C>T (p.Arg301Ter) rs398123224
NM_000169.2(GLA):c.902G>A (p.Arg301Gln) rs104894828
NM_000169.2(GLA):c.914C>T (p.Pro305Leu) rs1465021475
NM_000169.2(GLA):c.926C>T (p.Ala309Val) rs869312155
NM_000169.2(GLA):c.937G>A (p.Asp313Asn) rs28935490
NM_000169.2(GLA):c.937G>T (p.Asp313Tyr) rs28935490
NM_000169.2(GLA):c.943G>A (p.Asp315Asn) rs869312156
NM_000169.2(GLA):c.945C>T (p.Asp315=) rs151208856
NM_000169.2(GLA):c.947T>C (p.Val316Ala) rs869312157
NM_000169.2(GLA):c.950T>G (p.Ile317Ser) rs869312158
NM_000169.2(GLA):c.950_954dup (p.Ile319fs)
NM_000169.2(GLA):c.966C>A (p.Asp322Glu) rs398123226
NM_000169.2(GLA):c.968C>G (p.Pro323Arg) rs869312159
NM_000169.2(GLA):c.974G>A (p.Gly325Asp) rs398123228
NM_000169.2(GLA):c.978G>A (p.Lys326=) rs151195362
NM_000169.2(GLA):c.979C>A (p.Gln327Lys) rs28935491
NM_000169.2(GLA):c.980A>G (p.Gln327Arg) rs869312160
NM_000169.2(GLA):c.980A>T (p.Gln327Leu) rs869312160
NM_000169.2(GLA):c.982G>A (p.Gly328Arg) rs104894832
NM_000169.2(GLA):c.982G>C (p.Gly328Arg) rs104894832
NM_000169.2(GLA):c.983G>C (p.Gly328Ala) rs28935492
NM_000169.2(GLA):c.989A>G (p.Gln330Arg) rs869312161
NM_000169.2(GLA):c.98A>G (p.Asp33Gly) rs869312136
NM_000169.2(GLA):c.991C>T (p.Leu331Phe) rs730880437
NM_000169.2(GLA):c.994dup (p.Arg332fs) rs1569302887
NM_000169.2(GLA):c.[196G>C;334C>T]

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