ClinVar Miner

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

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Total variants: 234
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HGVS dbSNP
NM_000169.2(GLA):c.-105A>G rs3027583
NM_000169.2(GLA):c.-10C>T rs2071225
NM_000169.2(GLA):c.-12G>A rs3027585
NM_000169.2(GLA):c.-1A>G rs1555987235
NM_000169.2(GLA):c.-8C>G rs371291716
NM_000169.2(GLA):c.1000-22C>T rs2071228
NM_000169.2(GLA):c.100A>G (p.Asn34Asp) rs1555987150
NM_000169.2(GLA):c.1018T>C (p.Trp340Arg) rs1555984869
NM_000169.2(GLA):c.1019_1020insA (p.Trp340Terfs) 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.1023A>C (p.Glu341Asp) rs797044497
NM_000169.2(GLA):c.1023delA (p.Glu341Aspfs) rs886044909
NM_000169.2(GLA):c.1024C>G (p.Arg342Gly) rs104894843
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.1033_1034delTC (p.Ser345Argfs) rs398123198
NM_000169.2(GLA):c.1037delG (p.Gly346Alafs) rs879253990
NM_000169.2(GLA):c.1046G>C (p.Trp349Ser) rs869312218
NM_000169.2(GLA):c.1048G>A (p.Ala350Thr) rs1555984843
NM_000169.2(GLA):c.1057_1058delAT (p.Met353Aspfs) rs886044829
NM_000169.2(GLA):c.1067G>A (p.Arg356Gln) rs869312163
NM_000169.2(GLA):c.1069C>T (p.Gln357Ter)
NM_000169.2(GLA):c.1072G>A (p.Glu358Lys) rs797044774
NM_000169.2(GLA):c.1072_1074delGAG (p.Glu358del) rs730880453
NM_000169.2(GLA):c.1077del (p.Ile359Metfs)
NM_000169.2(GLA):c.1078G>C (p.Gly360Arg)
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.1087C>T (p.Arg363Cys) rs797044776
NM_000169.2(GLA):c.1088G>A (p.Arg363His) rs111422676
NM_000169.2(GLA):c.109G>C (p.Ala37Pro)
NM_000169.2(GLA):c.1117G>A (p.Gly373Ser) rs727504348
NM_000169.2(GLA):c.1118G>A (p.Gly373Asp) rs869312227
NM_000169.2(GLA):c.1125_1140del16 (p.Val376Profs) rs876661347
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.1162C>T (p.Leu388Phe)
NM_000169.2(GLA):c.1166delC (p.Pro389Leufs) rs886044846
NM_000169.2(GLA):c.1181T>C (p.Leu394Pro) rs886044779
NM_000169.2(GLA):c.1188delC (p.Tyr397Metfs) rs879253955
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.119C>G (p.Pro40Arg) rs398123199
NM_000169.2(GLA):c.1225C>T (p.Pro409Ser) rs878853698
NM_000169.2(GLA):c.1235_1236delCT (p.Thr412Serfs) rs797044777
NM_000169.2(GLA):c.1241T>C (p.Leu414Ser) rs869312246
NM_000169.2(GLA):c.1246C>T (p.Gln416Ter)
NM_000169.2(GLA):c.1247A>C (p.Gln416Pro) rs398123200
NM_000169.2(GLA):c.124A>C (p.Met42Leu) rs797044613
NM_000169.2(GLA):c.124A>G (p.Met42Val)
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.126G>C (p.Met42Ile)
NM_000169.2(GLA):c.127G>A (p.Gly43Ser) rs886044906
NM_000169.2(GLA):c.1285delC (p.Leu429Phefs) rs1555984717
NM_000169.2(GLA):c.128delG (p.Gly43Alafs) rs797044500
NM_000169.2(GLA):c.1290A>G (p.Ter430=) rs1555984712
NM_000169.2(GLA):c.129C>T (p.Gly43=) rs146177035
NM_000169.2(GLA):c.132G>A (p.Trp44Ter)
NM_000169.2(GLA):c.132G>C (p.Trp44Cys) rs398123202
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.137A>T (p.His46Leu) rs398123203
NM_000169.2(GLA):c.142G>C (p.Glu48Gln) rs398123204
NM_000169.2(GLA):c.146G>C (p.Arg49Pro) rs398123205
NM_000169.2(GLA):c.151A>C (p.Met51Leu)
NM_000169.2(GLA):c.154T>C (p.Cys52Arg) rs1057521047
NM_000169.2(GLA):c.164_171delACTGCCAGinsTCTGCCTA (p.Asp55_Gln57delinsValCysLeu)
NM_000169.2(GLA):c.179C>T (p.Pro60Leu)
NM_000169.2(GLA):c.188G>A (p.Cys63Tyr)
NM_000169.2(GLA):c.193A>G (p.Ser65Gly)
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
NM_000169.2(GLA):c.196G>C (p.Glu66Gln) rs104894833
NM_000169.2(GLA):c.19G>T (p.Glu7Ter) rs398123207
NM_000169.2(GLA):c.235G>T (p.Glu79Ter)
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.254G>A (p.Gly85Asp)
NM_000169.2(GLA):c.254G>C (p.Gly85Ala)
NM_000169.2(GLA):c.254G>T (p.Gly85Val)
NM_000169.2(GLA):c.265C>T (p.Leu89Phe) rs1555986305
NM_000169.2(GLA):c.265delC (p.Leu89Serfs) rs1555986307
NM_000169.2(GLA):c.268T>C (p.Cys90Arg) rs886044767
NM_000169.2(GLA):c.26delA (p.His9Leufs) rs1555987215
NM_000169.2(GLA):c.272T>C (p.Ile91Thr)
NM_000169.2(GLA):c.274G>A (p.Asp92Asn) rs886041315
NM_000169.2(GLA):c.274G>T (p.Asp92Tyr) rs886041315
NM_000169.2(GLA):c.281G>A (p.Cys94Tyr) rs113173389
NM_000169.2(GLA):c.285G>A (p.Trp95Ter) rs886044900
NM_000169.2(GLA):c.290C>T (p.Ala97Val)
NM_000169.2(GLA):c.295del (p.Gln99Lysfs)
NM_000169.2(GLA):c.295dupC (p.Gln99Profs) 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.335G>T (p.Arg112Leu) rs372966991
NM_000169.2(GLA):c.352C>T (p.Arg118Cys) rs148158093
NM_000169.2(GLA):c.361_364delGCTA (p.Ala121Ilefs) rs797044670
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.376A>G (p.Ser126Gly) rs149391489
NM_000169.2(GLA):c.394G>A (p.Gly132Arg) rs1555985855
NM_000169.2(GLA):c.398_413del16insCTGC (p.Ile133_Gly138delinsThrAla)
NM_000169.2(GLA):c.400T>G (p.Tyr134Asp) rs727503951
NM_000169.2(GLA):c.402T>G (p.Tyr134Ter)
NM_000169.2(GLA):c.41T>C (p.Leu14Pro)
NM_000169.2(GLA):c.422C>T (p.Thr141Ile) rs886044843
NM_000169.2(GLA):c.424T>C (p.Cys142Arg) rs886044845
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.443G>A (p.Ser148Asn) rs1555985829
NM_000169.2(GLA):c.443G>T (p.Ser148Ile)
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.509A>G (p.Asp170Gly) rs398123210
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.548G>A (p.Gly183Asp)
NM_000169.2(GLA):c.548G>T (p.Gly183Val) rs398123212
NM_000169.2(GLA):c.593T>C (p.Ile198Thr) rs727503950
NM_000169.2(GLA):c.595G>A (p.Val199Met) rs398123213
NM_000169.2(GLA):c.596T>C (p.Val199Ala) rs781871113
NM_000169.2(GLA):c.596T>G (p.Val199Gly)
NM_000169.2(GLA):c.59_72dup (p.Asp25Profs) rs1555987175
NM_000169.2(GLA):c.59_84del26 (p.Ala20Glyfs) rs1555987162
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.613C>A (p.Pro205Thr) rs397515870
NM_000169.2(GLA):c.613_621del (p.Pro205_Tyr207del)
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)
NM_000169.2(GLA):c.620A>G (p.Tyr207Cys) rs797044727
NM_000169.2(GLA):c.622_623delAT (p.Met208Valfs) rs1064796601
NM_000169.2(GLA):c.630delC (p.Gln212Lysfs) rs398123214
NM_000169.2(GLA):c.639+4A>T rs398123215
NM_000169.2(GLA):c.639+919G>A rs199473684
NM_000169.2(GLA):c.640-16A>G rs2071397
NM_000169.2(GLA):c.640-1G>A
NM_000169.2(GLA):c.640-1G>T rs398123216
NM_000169.2(GLA):c.640-814T>C
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.658C>T (p.Arg220Ter) rs727503949
NM_000169.2(GLA):c.661C>T (p.Gln221Ter) rs797044747
NM_000169.2(GLA):c.662_663delAG (p.Gln221Leufs) rs398123218
NM_000169.2(GLA):c.664_672delTACTGCAAT (p.Tyr222_Asn224del) rs886044902
NM_000169.2(GLA):c.666C>A (p.Tyr222Ter) rs104894851
NM_000169.2(GLA):c.670A>G (p.Asn224Asp) rs1555985175
NM_000169.2(GLA):c.677G>A (p.Trp226Ter) rs398123219
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)
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.701A>T (p.Asp234Val)
NM_000169.2(GLA):c.704C>G (p.Ser235Cys) rs797044746
NM_000169.2(GLA):c.706T>A (p.Trp236Arg)
NM_000169.2(GLA):c.707G>A (p.Trp236Ter) rs879254022
NM_000169.2(GLA):c.708G>T (p.Trp236Cys) rs869312386
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_719delAA (p.Lys240Glufs) rs869312389
NM_000169.2(GLA):c.724A>G (p.Ile242Val) rs397515873
NM_000169.2(GLA):c.730G>A (p.Asp244Asn) rs727503948
NM_000169.2(GLA):c.730G>C (p.Asp244His)
NM_000169.2(GLA):c.734G>A (p.Trp245Ter) rs398123220
NM_000169.2(GLA):c.734G>T (p.Trp245Leu) rs398123220
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.Gly261Valfs)
NM_000169.2(GLA):c.781G>A (p.Gly261Ser) rs886044878
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.797A>T (p.Asp266Val) rs28935487
NM_000169.2(GLA):c.800del (p.Met267Serfs)
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.806T>A (p.Val269Glu) rs28935488
NM_000169.2(GLA):c.808A>T (p.Ile270Phe)
NM_000169.2(GLA):c.80delC (p.Pro27Leufs) rs730880454
NM_000169.2(GLA):c.823C>T (p.Leu275Phe) rs398123222
NM_000169.2(GLA):c.826A>G (p.Ser276Gly)
NM_000169.2(GLA):c.830G>A (p.Trp277Ter) rs886044766
NM_000169.2(GLA):c.842_844delTAA (p.Val281_Thr282delinsAla) rs1555985004
NM_000169.2(GLA):c.847C>T (p.Gln283Ter) rs730880452
NM_000169.2(GLA):c.848dup (p.Met284Aspfs) rs1555985002
NM_000169.2(GLA):c.861G>T (p.Trp287Cys) rs104894839
NM_000169.2(GLA):c.865A>T (p.Ile289Phe) rs140329381
NM_000169.2(GLA):c.868A>C (p.Met290Leu) rs375538532
NM_000169.2(GLA):c.870G>C (p.Met290Ile)
NM_000169.2(GLA):c.879_880delTTinsAATC (p.Leu294Ilefs) rs797044769
NM_000169.2(GLA):c.886A>G (p.Met296Val) rs104894830
NM_000169.2(GLA):c.887T>C (p.Met296Thr)
NM_000169.2(GLA):c.890C>G (p.Ser297Cys) rs28935489
NM_000169.2(GLA):c.893A>G (p.Asn298Ser)
NM_000169.2(GLA):c.896A>G (p.Asp299Gly)
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.902G>A (p.Arg301Gln) rs104894828
NM_000169.2(GLA):c.916C>T (p.Gln306Ter) rs797044768
NM_000169.2(GLA):c.926C>T (p.Ala309Val) rs869312155
NM_000169.2(GLA):c.937G>T (p.Asp313Tyr) rs28935490
NM_000169.2(GLA):c.945C>T (p.Asp315=) rs151208856
NM_000169.2(GLA):c.958A>C (p.Asn320His) rs1555984950
NM_000169.2(GLA):c.959_962delATCA (p.Asn320Argfs) rs398123225
NM_000169.2(GLA):c.95T>C (p.Leu32Pro)
NM_000169.2(GLA):c.966C>A (p.Asp322Glu) rs398123226
NM_000169.2(GLA):c.966C>G (p.Asp322Glu) rs398123226
NM_000169.2(GLA):c.967C>A (p.Pro323Thr) rs147737890
NM_000169.2(GLA):c.973G>A (p.Gly325Ser) rs398123227
NM_000169.2(GLA):c.974G>A (p.Gly325Asp) rs398123228
NM_000169.2(GLA):c.979C>T (p.Gln327Ter) rs28935491
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.996_999delACAG (p.Gln333Glufs) rs398123229
NM_000169.2(GLA):c.999+2T>C rs886044860

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