ClinVar Miner

List of variants in gene combination GLA, RPL36A-HNRNPH2 reported as pathogenic for Fabry disease

Included ClinVar conditions (2):
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ClinVar version:
Total variants: 117
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HGVS dbSNP
NC_000023.10:g.(?_100658779)_(100658993_?)del
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.1066C>T (p.Arg356Trp) rs104894827
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.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.118C>T (p.Pro40Ser) rs104894831
NM_000169.2(GLA):c.1192G>T (p.Glu398Ter) rs104894844
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.1228A>G (p.Thr410Ala) rs104894852
NM_000169.2(GLA):c.1235_1236del (p.Thr412fs) rs797044777
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.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.131G>A (p.Trp44Ter) rs104894829
NM_000169.2(GLA):c.141G>C (p.Trp47Cys) rs1555987101
NM_000169.2(GLA):c.166T>G (p.Cys56Gly) rs104894836
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.256T>C (p.Tyr86His) rs869312140
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.369+2T>G rs387906483
NM_000169.2(GLA):c.404C>T (p.Ala135Val) rs1569304221
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.456C>A (p.Tyr152Ter) rs1555985827
NM_000169.2(GLA):c.45_49GCTTC[1] (p.Arg17fs) rs869312316
NM_000169.2(GLA):c.466G>A (p.Ala156Thr) rs28935195
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.496_497delinsGG (p.Leu166Gly)
NM_000169.2(GLA):c.520T>C (p.Cys174Arg)
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.59C>A (p.Ala20Asp) rs869312134
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.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.640-1G>A
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.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.707G>A (p.Trp236Ter) rs879254022
NM_000169.2(GLA):c.713G>A (p.Ser238Asn) rs730880450
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.735G>A (p.Trp245Ter) rs1060500747
NM_000169.2(GLA):c.748C>T (p.Gln250Ter) rs398123221
NM_000169.2(GLA):c.758T>C (p.Ile253Thr) rs727505292
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.801G>A (p.Met267Ile) rs730880451
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.826A>G (p.Ser276Gly)
NM_000169.2(GLA):c.830G>A (p.Trp277Ter) rs886044766
NM_000169.2(GLA):c.85dup (p.Ala29fs) rs1569306181
NM_000169.2(GLA):c.861G>A (p.Trp287Ter) rs104894839
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.901C>T (p.Arg301Ter) rs398123224
NM_000169.2(GLA):c.902G>A (p.Arg301Gln) rs104894828
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.974G>A (p.Gly325Asp) rs398123228
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.983G>C (p.Gly328Ala) rs28935492
NM_000169.2(GLA):c.98A>G (p.Asp33Gly) rs869312136
NM_000169.2(GLA):c.994dup (p.Arg332fs) rs1569302887
NM_000169.2(GLA):c.999+1G>T
NM_000169.2(GLA):c.[196G>C;334C>T]

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