ClinVar Miner

List of variants in gene combination GLA, RPL36A-HNRNPH2 studied for not provided

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Gene type:
ClinVar version:
Total variants: 249
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HGVS dbSNP
NM_000169.2(GLA):c.-105A>G rs3027583
NM_000169.2(GLA):c.-1A>G rs1555987235
NM_000169.2(GLA):c.-24T>G rs1603048396
NM_000169.2(GLA):c.-44C>T rs781906252
NM_000169.2(GLA):c.1000-22C>T rs2071228
NM_000169.2(GLA):c.1018T>C (p.Trp340Arg) rs1555984869
NM_000169.2(GLA):c.1019_1020insA (p.Trp340Ter) rs398123197
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.1024C>T (p.Arg342Ter) rs104894843
NM_000169.2(GLA):c.1025G>A (p.Arg342Gln) rs28935493
NM_000169.2(GLA):c.1046G>C (p.Trp349Ser) rs869312218
NM_000169.2(GLA):c.1067G>A (p.Arg356Gln) rs869312163
NM_000169.2(GLA):c.1069C>T (p.Gln357Ter) rs869312223
NM_000169.2(GLA):c.1072G>A (p.Glu358Lys) rs797044774
NM_000169.2(GLA):c.1072_1074del (p.Glu358del) rs730880453
NM_000169.2(GLA):c.1078G>C (p.Gly360Arg) rs782598150
NM_000169.2(GLA):c.1081G>A (p.Gly361Arg) rs28935494
NM_000169.2(GLA):c.1085C>T (p.Pro362Leu) rs730880441
NM_000169.2(GLA):c.1088G>A (p.Arg363His) rs111422676
NM_000169.2(GLA):c.1095T>C (p.Tyr365=) rs104894849
NM_000169.2(GLA):c.109G>C (p.Ala37Pro) rs869312226
NM_000169.2(GLA):c.1118G>A (p.Gly373Asp) rs869312227
NM_000169.2(GLA):c.1127T>A (p.Val376Glu) rs1555984793
NM_000169.2(GLA):c.112A>G (p.Arg38Gly) rs730880446
NM_000169.2(GLA):c.1157A>C (p.Gln386Pro) rs797044775
NM_000169.2(GLA):c.1181T>C (p.Leu394Pro) rs886044779
NM_000169.2(GLA):c.118C>T (p.Pro40Ser) rs104894831
NM_000169.2(GLA):c.1192G>A (p.Glu398Lys) rs104894844
NM_000169.2(GLA):c.1196G>C (p.Trp399Ser) rs782449839
NM_000169.2(GLA):c.1222A>T (p.Asn408Tyr) rs869312243
NM_000169.2(GLA):c.1225C>T (p.Pro409Ser) rs878853698
NM_000169.2(GLA):c.1235_1236del (p.Thr412fs) rs797044777
NM_000169.2(GLA):c.1241T>C (p.Leu414Ser) rs869312246
NM_000169.2(GLA):c.1246C>T (p.Gln416Ter) rs869312247
NM_000169.2(GLA):c.124A>C (p.Met42Leu) rs797044613
NM_000169.2(GLA):c.124A>G (p.Met42Val) rs797044613
NM_000169.2(GLA):c.1255A>G (p.Asn419Asp) rs879254061
NM_000169.2(GLA):c.125T>C (p.Met42Thr) rs398123201
NM_000169.2(GLA):c.128del (p.Gly43fs) rs797044500
NM_000169.2(GLA):c.1290A>G (p.Ter430=) rs1555984712
NM_000169.2(GLA):c.132G>T (p.Trp44Cys) rs398123202
NM_000169.2(GLA):c.137A>G (p.His46Arg) rs398123203
NM_000169.2(GLA):c.151A>C (p.Met51Leu) rs1569306069
NM_000169.2(GLA):c.154T>C (p.Cys52Arg) rs1057521047
NM_000169.2(GLA):c.179C>T (p.Pro60Leu) rs869312262
NM_000169.2(GLA):c.195-1G>C rs398123206
NM_000169.2(GLA):c.195-1G>T rs398123206
NM_000169.2(GLA):c.195-9C>A rs1569304947
NM_000169.2(GLA):c.239G>A (p.Gly80Asp) rs781838005
NM_000169.2(GLA):c.242G>A (p.Trp81Ter) rs398123208
NM_000169.2(GLA):c.247G>A (p.Asp83Asn) rs782722577
NM_000169.2(GLA):c.265C>T (p.Leu89Phe) rs1555986305
NM_000169.2(GLA):c.272T>C (p.Ile91Thr) rs869312141
NM_000169.2(GLA):c.274G>T (p.Asp92Tyr) rs886041315
NM_000169.2(GLA):c.290C>T (p.Ala97Val) rs1569304867
NM_000169.2(GLA):c.295del (p.Gln99fs) rs886039136
NM_000169.2(GLA):c.2T>C (p.Met1Thr) rs1555987232
NM_000169.2(GLA):c.326A>G (p.Asp109Gly) rs1064794205
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.369+163A>G rs370226383
NM_000169.2(GLA):c.369+1G>A rs797044669
NM_000169.2(GLA):c.369+5G>T rs398123209
NM_000169.2(GLA):c.370-2A>G rs730880444
NM_000169.2(GLA):c.400T>G (p.Tyr134Asp) rs727503951
NM_000169.2(GLA):c.402T>G (p.Tyr134Ter) rs1183869568
NM_000169.2(GLA):c.41T>C (p.Leu14Pro) rs730880455
NM_000169.2(GLA):c.422C>T (p.Thr141Ile) rs886044843
NM_000169.2(GLA):c.456C>A (p.Tyr152Ter) rs1555985827
NM_000169.2(GLA):c.469C>T (p.Gln157Ter) rs797044702
NM_000169.2(GLA):c.485G>A (p.Trp162Ter) rs727504350
NM_000169.2(GLA):c.547+190C>T rs41311559
NM_000169.2(GLA):c.547+397G>A rs1220800965
NM_000169.2(GLA):c.547G>A (p.Gly183Ser) rs869312324
NM_000169.2(GLA):c.548-1G>A rs730880447
NM_000169.2(GLA):c.548-2A>G rs398123211
NM_000169.2(GLA):c.560T>C (p.Met187Thr)
NM_000169.2(GLA):c.593T>C (p.Ile198Thr) rs727503950
NM_000169.2(GLA):c.596T>C (p.Val199Ala) rs781871113
NM_000169.2(GLA):c.605G>A (p.Cys202Tyr) rs869312344
NM_000169.2(GLA):c.607G>A (p.Glu203Lys) rs869312345
NM_000169.2(GLA):c.610T>C (p.Trp204Arg) rs869312148
NM_000169.2(GLA):c.614C>T (p.Pro205Leu) rs886044879
NM_000169.2(GLA):c.616C>G (p.Leu206Val) rs730880448
NM_000169.2(GLA):c.619T>C (p.Tyr207His) rs372416832
NM_000169.2(GLA):c.620A>C (p.Tyr207Ser) rs797044727
NM_000169.2(GLA):c.639+4A>T rs398123215
NM_000169.2(GLA):c.639+739C>T rs146083243
NM_000169.2(GLA):c.639+858C>G rs1603040086
NM_000169.2(GLA):c.640-11T>C rs782634293
NM_000169.2(GLA):c.640-136T>C rs3027592
NM_000169.2(GLA):c.640-16A>G rs2071397
NM_000169.2(GLA):c.640-1G>A rs398123216
NM_000169.2(GLA):c.640-1G>T rs398123216
NM_000169.2(GLA):c.640-749C>T rs148135742
NM_000169.2(GLA):c.640-814T>C rs1603040008
NM_000169.2(GLA):c.647A>G (p.Tyr216Cys) rs398123217
NM_000169.2(GLA):c.658C>T (p.Arg220Ter) rs727503949
NM_000169.2(GLA):c.661C>T (p.Gln221Ter) rs797044747
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.692A>C (p.Asp231Ala) rs1569303295
NM_000169.2(GLA):c.695T>G (p.Ile232Ser) rs797044749
NM_000169.2(GLA):c.700G>A (p.Asp234Asn) rs1057524557
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.724A>G (p.Ile242Val) rs397515873
NM_000169.2(GLA):c.735G>A (p.Trp245Ter) rs1060500747
NM_000169.2(GLA):c.748C>T (p.Gln250Ter) rs398123221
NM_000169.2(GLA):c.776C>G (p.Pro259Arg) rs869312399
NM_000169.2(GLA):c.777del (p.Gly261fs) rs1569303213
NM_000169.2(GLA):c.785G>A (p.Trp262Ter) rs869312402
NM_000169.2(GLA):c.791A>T (p.Asp264Val) rs28935486
NM_000169.2(GLA):c.801+3A>G rs797044748
NM_000169.2(GLA):c.801G>A (p.Met267Ile) rs730880451
NM_000169.2(GLA):c.802-2A>G rs797044499
NM_000169.2(GLA):c.802-3_802-2del rs797044498
NM_000169.2(GLA):c.826A>G (p.Ser276Gly) rs869312432
NM_000169.2(GLA):c.830G>A (p.Trp277Ter) rs886044766
NM_000169.2(GLA):c.847C>T (p.Gln283Ter) rs730880452
NM_000169.2(GLA):c.868A>C (p.Met290Leu) rs375538532
NM_000169.2(GLA):c.870G>C (p.Met290Ile) rs869312438
NM_000169.2(GLA):c.886A>G (p.Met296Val) rs104894830
NM_000169.2(GLA):c.887T>C (p.Met296Thr) rs869312442
NM_000169.2(GLA):c.88A>C (p.Arg30=) rs1603047946
NM_000169.2(GLA):c.890C>G (p.Ser297Cys) rs28935489
NM_000169.2(GLA):c.899T>C (p.Leu300Pro) rs398123223
NM_000169.2(GLA):c.901C>T (p.Arg301Ter) rs398123224
NM_000169.2(GLA):c.926C>T (p.Ala309Val) rs869312155
NM_000169.2(GLA):c.958A>C (p.Asn320His) rs1555984950
NM_000169.2(GLA):c.966C>A (p.Asp322Glu) rs398123226
NM_000169.2(GLA):c.967C>A (p.Pro323Thr) rs147737890
NM_000169.2(GLA):c.974G>A (p.Gly325Asp) rs398123228
NM_000169.2(GLA):c.982G>C (p.Gly328Arg) rs104894832
NM_000169.2(GLA):c.999+2T>C rs886044860
NM_000169.3(GLA):c.-10C>T rs2071225
NM_000169.3(GLA):c.-12G>A rs3027585
NM_000169.3(GLA):c.-8C>G rs371291716
NM_000169.3(GLA):c.1117G>A (p.Gly373Ser) rs727504348
NM_000169.3(GLA):c.129C>T (p.Gly43=) rs146177035
NM_000169.3(GLA):c.196G>C (p.Glu66Gln) rs104894833
NM_000169.3(GLA):c.26A>G (p.His9Arg)
NM_000169.3(GLA):c.352C>T (p.Arg118Cys) rs148158093
NM_000169.3(GLA):c.376A>G (p.Ser126Gly) rs149391489
NM_000169.3(GLA):c.427G>A (p.Ala143Thr) rs104894845
NM_000169.3(GLA):c.427G>C (p.Ala143Pro) rs104894845
NM_000169.3(GLA):c.613C>A (p.Pro205Thr) rs397515870
NM_000169.3(GLA):c.640-801G>A rs199473684
NM_000169.3(GLA):c.644A>G (p.Asn215Ser) rs28935197
NM_000169.3(GLA):c.714T>C (p.Ser238=) rs397515872
NM_000169.3(GLA):c.801+10T>G rs1603038845
NM_000169.3(GLA):c.902G>A (p.Arg301Gln) rs104894828
NM_000169.3(GLA):c.937G>T (p.Asp313Tyr) rs28935490
NM_000169.3(GLA):c.945C>T (p.Asp315=) rs151208856
NM_001199973.2(RPL36A-HNRNPH2):c.300+2357del rs1555984717
NM_001199973.2(RPL36A-HNRNPH2):c.300+2395T>G rs398123200
NM_001199973.2(RPL36A-HNRNPH2):c.300+2454del rs879253955
NM_001199973.2(RPL36A-HNRNPH2):c.300+2478del rs886044846
NM_001199973.2(RPL36A-HNRNPH2):c.300+2480G>A rs1569302626
NM_001199973.2(RPL36A-HNRNPH2):c.300+2502_300+2517del rs876661347
NM_001199973.2(RPL36A-HNRNPH2):c.300+2555G>A rs797044776
NM_001199973.2(RPL36A-HNRNPH2):c.300+2566del rs1569302692
NM_001199973.2(RPL36A-HNRNPH2):c.300+2585_300+2586del rs886044829
NM_001199973.2(RPL36A-HNRNPH2):c.300+2594C>T rs1555984843
NM_001199973.2(RPL36A-HNRNPH2):c.300+2606del rs879253990
NM_001199973.2(RPL36A-HNRNPH2):c.300+2608GA[2] rs398123198
NM_001199973.2(RPL36A-HNRNPH2):c.300+2618G>C rs104894843
NM_001199973.2(RPL36A-HNRNPH2):c.300+2619T>G rs797044497
NM_001199973.2(RPL36A-HNRNPH2):c.300+2620del rs886044909
NM_001199973.2(RPL36A-HNRNPH2):c.300+2915_300+2918del rs398123229
NM_001199973.2(RPL36A-HNRNPH2):c.300+2929C>G rs28935492
NM_001199973.2(RPL36A-HNRNPH2):c.300+2930C>T rs104894832
NM_001199973.2(RPL36A-HNRNPH2):c.300+2933G>A rs28935491
NM_001199973.2(RPL36A-HNRNPH2):c.300+2939C>T rs398123227
NM_001199973.2(RPL36A-HNRNPH2):c.300+2946G>C rs398123226
NM_001199973.2(RPL36A-HNRNPH2):c.300+2954_300+2957del rs398123225
NM_001199973.2(RPL36A-HNRNPH2):c.300+2996G>A rs797044768
NM_001199973.2(RPL36A-HNRNPH2):c.300+3016T>C rs1569302982
NM_001199973.2(RPL36A-HNRNPH2):c.300+3019T>C rs1569302985
NM_001199973.2(RPL36A-HNRNPH2):c.300+3032_300+3033delinsGATT rs797044769
NM_001199973.2(RPL36A-HNRNPH2):c.300+3047T>A rs140329381
NM_001199973.2(RPL36A-HNRNPH2):c.300+3051C>A rs104894839
NM_001199973.2(RPL36A-HNRNPH2):c.300+3064dup rs1555985002
NM_001199973.2(RPL36A-HNRNPH2):c.300+3068_300+3070del rs1555985004
NM_001199973.2(RPL36A-HNRNPH2):c.300+3089G>A rs398123222
NM_001199973.2(RPL36A-HNRNPH2):c.300+3104T>A rs1569303099
NM_001199973.2(RPL36A-HNRNPH2):c.300+3106A>T rs28935488
NM_001199973.2(RPL36A-HNRNPH2):c.300+3329del rs1569303189
NM_001199973.2(RPL36A-HNRNPH2):c.300+3332T>A rs28935487
NM_001199973.2(RPL36A-HNRNPH2):c.300+3348C>T rs886044878
NM_001199973.2(RPL36A-HNRNPH2):c.300+3395C>A rs398123220
NM_001199973.2(RPL36A-HNRNPH2):c.300+3395C>T rs398123220
NM_001199973.2(RPL36A-HNRNPH2):c.300+3399C>G rs727503948
NM_001199973.2(RPL36A-HNRNPH2):c.300+3399C>T rs727503948
NM_001199973.2(RPL36A-HNRNPH2):c.300+3411_300+3412del rs869312389
NM_001199973.2(RPL36A-HNRNPH2):c.300+3421C>A rs869312386
NM_001199973.2(RPL36A-HNRNPH2):c.300+3423A>T rs1555985148
NM_001199973.2(RPL36A-HNRNPH2):c.300+3425G>C rs797044746
NM_001199973.2(RPL36A-HNRNPH2):c.300+3428T>A rs1569303289
NM_001199973.2(RPL36A-HNRNPH2):c.300+3452C>T rs398123219
NM_001199973.2(RPL36A-HNRNPH2):c.300+3457_300+3465del rs886044902
NM_001199973.2(RPL36A-HNRNPH2):c.300+3459T>C rs1555985175
NM_001199973.2(RPL36A-HNRNPH2):c.300+3466_300+3467del rs398123218
NM_001199973.2(RPL36A-HNRNPH2):c.300+5220del rs398123214
NM_001199973.2(RPL36A-HNRNPH2):c.300+5227_300+5235del rs1569303815
NM_001199973.2(RPL36A-HNRNPH2):c.300+5228T>C rs797044727
NM_001199973.2(RPL36A-HNRNPH2):c.300+5228_300+5229del rs1064796601
NM_001199973.2(RPL36A-HNRNPH2):c.300+5252A>C rs781871113
NM_001199973.2(RPL36A-HNRNPH2):c.300+5253C>T rs398123213
NM_001199973.2(RPL36A-HNRNPH2):c.300+5300C>A rs398123212
NM_001199973.2(RPL36A-HNRNPH2):c.300+5300C>T rs398123212
NM_001199973.2(RPL36A-HNRNPH2):c.300+6213T>C rs398123210
NM_001199973.2(RPL36A-HNRNPH2):c.300+6279C>A rs1555985829
NM_001199973.2(RPL36A-HNRNPH2):c.300+6279C>T rs1555985829
NM_001199973.2(RPL36A-HNRNPH2):c.300+6298A>G rs886044845
NM_001199973.2(RPL36A-HNRNPH2):c.300+6309_300+6324delinsGCAG rs1569304218
NM_001199973.2(RPL36A-HNRNPH2):c.300+6328C>T rs1555985855
NM_001199973.2(RPL36A-HNRNPH2):c.301-4051C>A rs398123207
NM_001199973.2(RPL36A-HNRNPH2):c.301-4058del rs1555987215
NM_001199973.2(RPL36A-HNRNPH2):c.301-4097_301-4084dup rs1555987175
NM_001199973.2(RPL36A-HNRNPH2):c.301-4110del rs730880454
NM_001199973.2(RPL36A-HNRNPH2):c.301-4114_301-4089del rs1555987162
NM_001199973.2(RPL36A-HNRNPH2):c.301-4127A>G rs1569306168
NM_001199973.2(RPL36A-HNRNPH2):c.301-4132T>C rs1555987150
NM_001199973.2(RPL36A-HNRNPH2):c.301-4151G>C rs398123199
NM_001199973.2(RPL36A-HNRNPH2):c.301-4158C>G rs1569306108
NM_001199973.2(RPL36A-HNRNPH2):c.301-4159C>T rs886044906
NM_001199973.2(RPL36A-HNRNPH2):c.301-4164C>G rs398123202
NM_001199973.2(RPL36A-HNRNPH2):c.301-4164C>T rs398123202
NM_001199973.2(RPL36A-HNRNPH2):c.301-4169T>A rs398123203
NM_001199973.2(RPL36A-HNRNPH2):c.301-4174C>G rs398123204
NM_001199973.2(RPL36A-HNRNPH2):c.301-4178C>G rs398123205
NM_001199973.2(RPL36A-HNRNPH2):c.301-4203_301-4196delinsTAGGCAGA rs1569306036
NM_001199973.2(RPL36A-HNRNPH2):c.301-4220C>T rs1569306022
NM_001199973.2(RPL36A-HNRNPH2):c.301-4225T>C rs1569306013
NM_001199973.2(RPL36A-HNRNPH2):c.301-7991C>A rs730880443
NM_001199973.2(RPL36A-HNRNPH2):c.301-8010C>A rs1569304898
NM_001199973.2(RPL36A-HNRNPH2):c.301-8010C>G rs1569304898
NM_001199973.2(RPL36A-HNRNPH2):c.301-8010C>T rs1569304898
NM_001199973.2(RPL36A-HNRNPH2):c.301-8020del rs1555986307
NM_001199973.2(RPL36A-HNRNPH2):c.301-8024A>G rs886044767
NM_001199973.2(RPL36A-HNRNPH2):c.301-8030C>T rs886041315
NM_001199973.2(RPL36A-HNRNPH2):c.301-8037C>T rs113173389
NM_001199973.2(RPL36A-HNRNPH2):c.301-8041C>T rs886044900
NM_001199973.2(RPL36A-HNRNPH2):c.301-8048dup rs886039136
NM_001199973.2(RPL36A-HNRNPH2):c.301-8091C>A rs372966991
NM_001199973.2(RPL36A-HNRNPH2):c.301-8115_301-8112del rs797044670

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