ClinVar Miner

List of variants in gene combination GLA, RPL36A-HNRNPH2 reported by Eurofins NTD LLC (GA)

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 198
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000169.3(GLA):c.1000-22C>T rs2071228 0.33579
NM_000169.3(GLA):c.640-16A>G rs2071397 0.12447
NM_000169.3(GLA):c.-12G>A rs3027585 0.06554
NM_000169.3(GLA):c.-10C>T rs2071225 0.06441
NM_000169.3(GLA):c.194+17A>G rs2071226 0.00379
NM_000169.3(GLA):c.937G>T (p.Asp313Tyr) rs28935490 0.00308
NM_000169.3(GLA):c.978G>A (p.Lys326=) rs151195362 0.00100
NM_000169.3(GLA):c.376A>G (p.Ser126Gly) rs149391489 0.00043
NM_000169.3(GLA):c.352C>T (p.Arg118Cys) rs148158093 0.00040
NM_000169.3(GLA):c.427G>A (p.Ala143Thr) rs104894845 0.00039
NM_000169.3(GLA):c.129C>T (p.Gly43=) rs146177035 0.00018
NM_000169.3(GLA):c.1088G>A (p.Arg363His) rs111422676 0.00013
NM_000169.3(GLA):c.619T>C (p.Tyr207His) rs372416832 0.00005
NM_000169.3(GLA):c.640-801G>A rs199473684 0.00005
NM_000169.3(GLA):c.1067G>A (p.Arg356Gln) rs869312163 0.00003
NM_000169.3(GLA):c.714T>C (p.Ser238=) rs397515872 0.00003
NM_000169.3(GLA):c.1181T>C (p.Leu394Pro) rs886044779 0.00002
NM_000169.3(GLA):c.196G>C (p.Glu66Gln) rs104894833 0.00002
NM_000169.3(GLA):c.593T>C (p.Ile198Thr) rs727503950 0.00002
NM_000169.3(GLA):c.1025G>A (p.Arg342Gln) rs28935493 0.00001
NM_000169.3(GLA):c.1087C>T (p.Arg363Cys) rs797044776 0.00001
NM_000169.3(GLA):c.124A>C (p.Met42Leu) rs797044613 0.00001
NM_000169.3(GLA):c.179C>T (p.Pro60Leu) rs869312262 0.00001
NM_000169.3(GLA):c.247G>A (p.Asp83Asn) rs782722577 0.00001
NM_000169.3(GLA):c.547+397G>A rs1220800965 0.00001
NM_000169.3(GLA):c.596T>C (p.Val199Ala) rs781871113 0.00001
NM_000169.3(GLA):c.644A>G (p.Asn215Ser) rs28935197 0.00001
NM_000169.3(GLA):c.679C>T (p.Arg227Ter) rs104894841 0.00001
NM_000169.3(GLA):c.734G>T (p.Trp245Leu) rs398123220 0.00001
NM_000169.3(GLA):c.870G>C (p.Met290Ile) rs869312438 0.00001
NM_000169.3(GLA):c.100A>G (p.Asn34Asp) rs1555987150
NM_000169.3(GLA):c.1019_1020insA (p.Trp340Ter) rs398123197
NM_000169.3(GLA):c.101A>G (p.Asn34Ser) rs104894835
NM_000169.3(GLA):c.1020G>A (p.Trp340Ter) rs104894842
NM_000169.3(GLA):c.1023del (p.Glu341fs) rs886044909
NM_000169.3(GLA):c.1024C>G (p.Arg342Gly) rs104894843
NM_000169.3(GLA):c.1024C>T (p.Arg342Ter) rs104894843
NM_000169.3(GLA):c.1033_1034del (p.Ser345fs) rs398123198
NM_000169.3(GLA):c.1046G>C (p.Trp349Ser) rs869312218
NM_000169.3(GLA):c.1057_1058del (p.Met353fs) rs886044829
NM_000169.3(GLA):c.1069C>T (p.Gln357Ter) rs869312223
NM_000169.3(GLA):c.1072G>A (p.Glu358Lys) rs797044774
NM_000169.3(GLA):c.1072_1074del (p.Glu358del) rs730880453
NM_000169.3(GLA):c.1077del (p.Ile359fs) rs1569302692
NM_000169.3(GLA):c.1078G>C (p.Gly360Arg) rs782598150
NM_000169.3(GLA):c.1085C>T (p.Pro362Leu) rs730880441
NM_000169.3(GLA):c.109G>C (p.Ala37Pro) rs869312226
NM_000169.3(GLA):c.1117G>A (p.Gly373Ser) rs727504348
NM_000169.3(GLA):c.1118G>A (p.Gly373Asp) rs869312227
NM_000169.3(GLA):c.1157A>C (p.Gln386Pro) rs797044775
NM_000169.3(GLA):c.1162C>T (p.Leu388Phe) rs1569302626
NM_000169.3(GLA):c.1166del (p.Pro389fs) rs886044846
NM_000169.3(GLA):c.118C>T (p.Pro40Ser) rs104894831
NM_000169.3(GLA):c.119C>G (p.Pro40Arg) rs398123199
NM_000169.3(GLA):c.1225C>T (p.Pro409Ser) rs878853698
NM_000169.3(GLA):c.1235_1236del (p.Thr412fs) rs797044777
NM_000169.3(GLA):c.1246C>T (p.Gln416Ter) rs869312247
NM_000169.3(GLA):c.1247A>C (p.Gln416Pro) rs398123200
NM_000169.3(GLA):c.124A>G (p.Met42Val) rs797044613
NM_000169.3(GLA):c.125T>C (p.Met42Thr) rs398123201
NM_000169.3(GLA):c.126G>C (p.Met42Ile) rs1569306108
NM_000169.3(GLA):c.127G>A (p.Gly43Ser) rs886044906
NM_000169.3(GLA):c.128del (p.Gly43fs) rs797044500
NM_000169.3(GLA):c.132G>A (p.Trp44Ter) rs398123202
NM_000169.3(GLA):c.132G>C (p.Trp44Cys) rs398123202
NM_000169.3(GLA):c.132G>T (p.Trp44Cys) rs398123202
NM_000169.3(GLA):c.137A>G (p.His46Arg) rs398123203
NM_000169.3(GLA):c.137A>T (p.His46Leu) rs398123203
NM_000169.3(GLA):c.142G>C (p.Glu48Gln) rs398123204
NM_000169.3(GLA):c.146G>C (p.Arg49Pro) rs398123205
NM_000169.3(GLA):c.154T>C (p.Cys52Arg) rs1057521047
NM_000169.3(GLA):c.164_171delinsTCTGCCTA (p.Asp55_Gln57delinsValCysLeu) rs1569306036
NM_000169.3(GLA):c.188G>A (p.Cys63Tyr) rs1569306022
NM_000169.3(GLA):c.193A>G (p.Ser65Gly) rs1569306013
NM_000169.3(GLA):c.195-1G>C rs398123206
NM_000169.3(GLA):c.195-1G>T rs398123206
NM_000169.3(GLA):c.195-9C>A rs1569304947
NM_000169.3(GLA):c.19G>T (p.Glu7Ter) rs398123207
NM_000169.3(GLA):c.235G>T (p.Glu79Ter) rs730880443
NM_000169.3(GLA):c.239G>A (p.Gly80Asp) rs781838005
NM_000169.3(GLA):c.242G>A (p.Trp81Ter) rs398123208
NM_000169.3(GLA):c.254G>A (p.Gly85Asp) rs1569304898
NM_000169.3(GLA):c.254G>C (p.Gly85Ala) rs1569304898
NM_000169.3(GLA):c.254G>T (p.Gly85Val) rs1569304898
NM_000169.3(GLA):c.265C>T (p.Leu89Phe) rs1555986305
NM_000169.3(GLA):c.265del (p.Leu89fs) rs1555986307
NM_000169.3(GLA):c.268T>C (p.Cys90Arg) rs886044767
NM_000169.3(GLA):c.272T>C (p.Ile91Thr) rs869312141
NM_000169.3(GLA):c.274G>A (p.Asp92Asn) rs886041315
NM_000169.3(GLA):c.274G>T (p.Asp92Tyr) rs886041315
NM_000169.3(GLA):c.281G>A (p.Cys94Tyr) rs113173389
NM_000169.3(GLA):c.285G>A (p.Trp95Ter) rs886044900
NM_000169.3(GLA):c.290C>T (p.Ala97Val) rs1569304867
NM_000169.3(GLA):c.295del (p.Gln99fs) rs886039136
NM_000169.3(GLA):c.295dup (p.Gln99fs) rs886039136
NM_000169.3(GLA):c.2T>C (p.Met1Thr) rs1555987232
NM_000169.3(GLA):c.334C>T (p.Arg112Cys) rs104894834
NM_000169.3(GLA):c.335G>T (p.Arg112Leu) rs372966991
NM_000169.3(GLA):c.361_364del (p.Ala121fs) rs797044670
NM_000169.3(GLA):c.369+1G>A rs797044669
NM_000169.3(GLA):c.369+5G>T rs398123209
NM_000169.3(GLA):c.370-81_370-77del rs5903184
NM_000169.3(GLA):c.394G>A (p.Gly132Arg) rs1555985855
NM_000169.3(GLA):c.398_413delinsCTGC (p.Ile133_Gly138delinsThrAla) rs1569304218
NM_000169.3(GLA):c.400T>G (p.Tyr134Asp) rs727503951
NM_000169.3(GLA):c.41T>C (p.Leu14Pro) rs730880455
NM_000169.3(GLA):c.422C>T (p.Thr141Ile) rs886044843
NM_000169.3(GLA):c.424T>C (p.Cys142Arg) rs886044845
NM_000169.3(GLA):c.427G>C (p.Ala143Pro) rs104894845
NM_000169.3(GLA):c.443G>A (p.Ser148Asn) rs1555985829
NM_000169.3(GLA):c.443G>T (p.Ser148Ile) rs1555985829
NM_000169.3(GLA):c.456C>A (p.Tyr152Ter) rs1555985827
NM_000169.3(GLA):c.469C>T (p.Gln157Ter) rs797044702
NM_000169.3(GLA):c.485G>A (p.Trp162Ter) rs727504350
NM_000169.3(GLA):c.509A>G (p.Asp170Gly) rs398123210
NM_000169.3(GLA):c.547G>A (p.Gly183Ser) rs869312324
NM_000169.3(GLA):c.548-2A>G rs398123211
NM_000169.3(GLA):c.548G>T (p.Gly183Val) rs398123212
NM_000169.3(GLA):c.595G>A (p.Val199Met) rs398123213
NM_000169.3(GLA):c.596T>G (p.Val199Gly) rs781871113
NM_000169.3(GLA):c.59_72dup (p.Asp25fs) rs1555987175
NM_000169.3(GLA):c.59_84del (p.Ala20fs) rs1555987162
NM_000169.3(GLA):c.605G>A (p.Cys202Tyr) rs869312344
NM_000169.3(GLA):c.610T>C (p.Trp204Arg) rs869312148
NM_000169.3(GLA):c.613C>A (p.Pro205Thr) rs397515870
NM_000169.3(GLA):c.613_621del (p.Pro205_Tyr207del) rs1569303815
NM_000169.3(GLA):c.614C>T (p.Pro205Leu) rs886044879
NM_000169.3(GLA):c.620A>C (p.Tyr207Ser) rs797044727
NM_000169.3(GLA):c.620A>G (p.Tyr207Cys) rs797044727
NM_000169.3(GLA):c.622_623del (p.Met208fs) rs1064796601
NM_000169.3(GLA):c.630del (p.Gln212fs) rs398123214
NM_000169.3(GLA):c.639+4A>T rs398123215
NM_000169.3(GLA):c.640-1G>A rs398123216
NM_000169.3(GLA):c.640-1G>T rs398123216
NM_000169.3(GLA):c.647A>G (p.Tyr216Cys) rs398123217
NM_000169.3(GLA):c.658C>T (p.Arg220Ter) rs727503949
NM_000169.3(GLA):c.661C>T (p.Gln221Ter) rs797044747
NM_000169.3(GLA):c.662_663del (p.Gln221fs) rs398123218
NM_000169.3(GLA):c.664_672del (p.Tyr222_Asn224del) rs886044902
NM_000169.3(GLA):c.666C>A (p.Tyr222Ter) rs104894851
NM_000169.3(GLA):c.670A>G (p.Asn224Asp) rs1555985175
NM_000169.3(GLA):c.677G>A (p.Trp226Ter) rs398123219
NM_000169.3(GLA):c.680G>A (p.Arg227Gln) rs104894840
NM_000169.3(GLA):c.695T>G (p.Ile232Ser) rs797044749
NM_000169.3(GLA):c.701A>T (p.Asp234Val) rs1569303289
NM_000169.3(GLA):c.704C>G (p.Ser235Cys) rs797044746
NM_000169.3(GLA):c.706T>A (p.Trp236Arg) rs1555985148
NM_000169.3(GLA):c.708G>T (p.Trp236Cys) rs869312386
NM_000169.3(GLA):c.718_719del (p.Lys240fs) rs869312389
NM_000169.3(GLA):c.734G>A (p.Trp245Ter) rs398123220
NM_000169.3(GLA):c.735G>A (p.Trp245Ter) rs1060500747
NM_000169.3(GLA):c.748C>T (p.Gln250Ter) rs398123221
NM_000169.3(GLA):c.776C>G (p.Pro259Arg) rs869312399
NM_000169.3(GLA):c.777del (p.Gly261fs) rs1569303213
NM_000169.3(GLA):c.781G>A (p.Gly261Ser) rs886044878
NM_000169.3(GLA):c.785G>A (p.Trp262Ter) rs869312402
NM_000169.3(GLA):c.791A>T (p.Asp264Val) rs28935486
NM_000169.3(GLA):c.797A>T (p.Asp266Val) rs28935487
NM_000169.3(GLA):c.800del (p.Met267fs) rs1569303189
NM_000169.3(GLA):c.801+3A>G rs797044748
NM_000169.3(GLA):c.801G>A (p.Met267Ile) rs730880451
NM_000169.3(GLA):c.802-2A>G rs797044499
NM_000169.3(GLA):c.802-3_802-2del rs797044498
NM_000169.3(GLA):c.806T>A (p.Val269Glu) rs28935488
NM_000169.3(GLA):c.808A>T (p.Ile270Phe) rs1569303099
NM_000169.3(GLA):c.80del (p.Pro27fs) rs730880454
NM_000169.3(GLA):c.823C>T (p.Leu275Phe) rs398123222
NM_000169.3(GLA):c.826A>G (p.Ser276Gly) rs869312432
NM_000169.3(GLA):c.830G>A (p.Trp277Ter) rs886044766
NM_000169.3(GLA):c.842_844del (p.Val281_Thr282delinsAla) rs1555985004
NM_000169.3(GLA):c.847C>T (p.Gln283Ter) rs730880452
NM_000169.3(GLA):c.848dup (p.Met284fs) rs1555985002
NM_000169.3(GLA):c.861G>T (p.Trp287Cys) rs104894839
NM_000169.3(GLA):c.865A>T (p.Ile289Phe) rs140329381
NM_000169.3(GLA):c.879_880delinsAATC (p.Leu294fs) rs797044769
NM_000169.3(GLA):c.886A>G (p.Met296Val) rs104894830
NM_000169.3(GLA):c.887T>C (p.Met296Thr) rs869312442
NM_000169.3(GLA):c.890C>G (p.Ser297Cys) rs28935489
NM_000169.3(GLA):c.893A>G (p.Asn298Ser) rs1569302985
NM_000169.3(GLA):c.896A>G (p.Asp299Gly) rs1569302982
NM_000169.3(GLA):c.899T>C (p.Leu300Pro) rs398123223
NM_000169.3(GLA):c.901C>T (p.Arg301Ter) rs398123224
NM_000169.3(GLA):c.902G>A (p.Arg301Gln) rs104894828
NM_000169.3(GLA):c.916C>T (p.Gln306Ter) rs797044768
NM_000169.3(GLA):c.959_962del (p.Asn320fs) rs398123225
NM_000169.3(GLA):c.95T>C (p.Leu32Pro) rs1569306168
NM_000169.3(GLA):c.966C>A (p.Asp322Glu) rs398123226
NM_000169.3(GLA):c.966C>G (p.Asp322Glu) rs398123226
NM_000169.3(GLA):c.973G>A (p.Gly325Ser) rs398123227
NM_000169.3(GLA):c.974G>A (p.Gly325Asp) rs398123228
NM_000169.3(GLA):c.979C>T (p.Gln327Ter) rs28935491
NM_000169.3(GLA):c.982G>A (p.Gly328Arg) rs104894832
NM_000169.3(GLA):c.982G>C (p.Gly328Arg) rs104894832
NM_000169.3(GLA):c.983G>C (p.Gly328Ala) rs28935492
NM_000169.3(GLA):c.996_999del (p.Gln333fs) rs398123229
NM_000169.3(GLA):c.999+2T>C rs886044860
NM_001199973.2(RPL36A-HNRNPH2):c.300+2619T>G rs797044497
NM_001199973.2(RPL36A-HNRNPH2):c.300+3399C>T rs727503948

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.