ClinVar Miner

List of variants reported as pathogenic for Fabry disease

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ClinVar version:
Total variants: 308
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HGVS dbSNP gnomAD frequency
NM_000169.3(GLA):c.427G>A (p.Ala143Thr) rs104894845 0.00039
NM_000169.3(GLA):c.1088G>A (p.Arg363His) rs111422676 0.00013
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.335G>A (p.Arg112His) rs372966991 0.00002
NM_000169.3(GLA):c.593T>C (p.Ile198Thr) rs727503950 0.00002
NM_001298.3(CNGA3):c.830G>A (p.Arg277His) rs778114016 0.00002
NM_000169.3(GLA):c.1025G>A (p.Arg342Gln) rs28935493 0.00001
NM_000169.3(GLA):c.1055C>G (p.Ala352Gly) rs869312162 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.644A>G (p.Asn215Ser) rs28935197 0.00001
NM_000169.3(GLA):c.679C>T (p.Arg227Ter) rs104894841 0.00001
NM_000169.3(GLA):c.706T>C (p.Trp236Arg) rs1555985148 0.00001
NM_000169.3(GLA):c.724A>G (p.Ile242Val) rs397515873 0.00001
NM_000169.3(GLA):c.868A>C (p.Met290Leu) rs375538532 0.00001
NM_000169.3(GLA):c.870G>C (p.Met290Ile) rs869312438 0.00001
GLA, 1-BP DEL, NT716
GLA, 2-BP DEL, NT1176
NC_000023.10:g.(?_100499986)_(100662891_?)del
NC_000023.10:g.(?_100604873)_(100667593_?)del
NC_000023.10:g.(?_100651964)_(100653826_?)del
NC_000023.10:g.(?_100652797)_(100658993_?)del
NC_000023.10:g.(?_100655634)_(100656817_?)del
NC_000023.11:g.(?_101397790)_(101398947_101400665)del
NC_000023.11:g.(?_101403791)_(101404005_?)del
NC_000023.11:g.101398823_101398824ins(300)
NG_007119.1:g.10472_13669del
NG_007119.1:g.14126_15974del15826_15976inv15975_15988del
NM_000153.4(GALC):c.830G>A (p.Ser277Asn) rs1886145312
NM_000169.2(GLA):c.[196G>C;334C>T]
NM_000169.3(GLA):c.1000-1G>A rs869312204
NM_000169.3(GLA):c.1017_1027del (p.Trp340fs) rs1603037764
NM_000169.3(GLA):c.1018T>C (p.Trp340Arg) rs1555984869
NM_000169.3(GLA):c.1019G>A (p.Trp340Ter) rs730880440
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.101_105del (p.Asn34fs) rs2147487375
NM_000169.3(GLA):c.1020G>A (p.Trp340Ter) rs104894842
NM_000169.3(GLA):c.1021G>A (p.Glu341Lys) rs869312214
NM_000169.3(GLA):c.1021G>T (p.Glu341Ter) rs869312214
NM_000169.3(GLA):c.1023del (p.Glu341fs) rs886044909
NM_000169.3(GLA):c.1024C>T (p.Arg342Ter) rs104894843
NM_000169.3(GLA):c.1028del (p.Pro343fs) rs869312215
NM_000169.3(GLA):c.1031_1034dup (p.Gly346fs) rs398123198
NM_000169.3(GLA):c.1033_1034del (p.Ser345fs) rs398123198
NM_000169.3(GLA):c.1040dup (p.Leu347fs) rs1928137855
NM_000169.3(GLA):c.1042dup (p.Ala348fs) rs2147471207
NM_000169.3(GLA):c.1046G>A (p.Trp349Ter) rs869312218
NM_000169.3(GLA):c.104G>A (p.Gly35Glu) rs869312137
NM_000169.3(GLA):c.1055_1056del (p.Ala352fs) rs1555984840
NM_000169.3(GLA):c.1057_1058del (p.Met353fs) rs886044829
NM_000169.3(GLA):c.1061T>A (p.Ile354Lys) rs1928135337
NM_000169.3(GLA):c.1066C>T (p.Arg356Trp) rs104894827
NM_000169.3(GLA):c.1067G>C (p.Arg356Pro) rs869312163
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.107T>G (p.Leu36Trp) rs869312138
NM_000169.3(GLA):c.1081G>C (p.Gly361Arg) rs28935494
NM_000169.3(GLA):c.1085C>T (p.Pro362Leu) rs730880441
NM_000169.3(GLA):c.1094dup (p.Tyr365Ter)
NM_000169.3(GLA):c.1095T>A (p.Tyr365Ter) rs104894849
NM_000169.3(GLA):c.109G>C (p.Ala37Pro) rs869312226
NM_000169.3(GLA):c.109del (p.Ala37fs)
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.1118G>T (p.Gly373Val) rs869312227
NM_000169.3(GLA):c.1124_1176del (p.Gly375fs) rs1603037323
NM_000169.3(GLA):c.1125_1140del (p.Val376fs) rs876661347
NM_000169.3(GLA):c.1132dup (p.Cys378fs)
NM_000169.3(GLA):c.1147_1149del (p.Phe383del) rs1057519609
NM_000169.3(GLA):c.1166_1168delinsAGACTAGCTGAGTAACACAGCTGTGTTCCAGACTAGCTGAGTAACAAAGAGAGACACCCAACACAAAAACTAAAATTAGCCAGGTATGGTAACAGGCACCTATAGTCCCAGCTACTCAGGAGGCTGAGGCAGGTGGACCACTTGAGCCTGCAAGCTCAAAGCTGTAGCAAGCTATGATCCACACCACTGGCACTTACGAGAGGGAGACCCTGTCTCAAAAAAAAAAAAAAAACTCCACTGGGGGGTTTCATACACTAGAAAACCTATTCTTTGTAGTTATTTTGGTATAAATATATCTACTTTAAAATGTGAGGGGGAATGTCAAAATGTTCAAGAGTGTAAGACCAAGTCCACAGACAATGTTATATATGTTACAGTGTACTGTGTCTGAAGAACAATGCCAAAATTCTTTATTAAATTAACTGTTATAACAAAGATCTGACACTTAACTCTTAGCAAAGACATCTCATATTCACTATGAATGTGTTACTGACTTCTCCCTATTAGCCTGAAATGTGTCTACTCACATGATAACCAATAACCATTGCATAATGACAAACTGCCTCATAAGGCCCCTAGTGATTGAAGTGCCAAATTAGAAAATTGCAACATATGATGTGAACTCAACCAGTCAGCTTCAATGCAAAACAAGTAGTACCAGTAAGAGGCATAAATTTCCCCACAAGCGGAATTGTATTGATGGCTCTAGCTTATTCCCTCCCAAAAGA (p.Pro389_Val390delinsGlnThrSerTer)
NM_000169.3(GLA):c.116_119del (p.Thr39fs) rs2147487313
NM_000169.3(GLA):c.1188del (p.Tyr397fs) rs879253955
NM_000169.3(GLA):c.118C>T (p.Pro40Ser) rs104894831
NM_000169.3(GLA):c.1192G>T (p.Glu398Ter) rs104894844
NM_000169.3(GLA):c.119C>T (p.Pro40Leu) rs398123199
NM_000169.3(GLA):c.1209AAG[1] (p.Arg404del) rs869312241
NM_000169.3(GLA):c.1225C>G (p.Pro409Ala) rs878853698
NM_000169.3(GLA):c.1225C>T (p.Pro409Ser) rs878853698
NM_000169.3(GLA):c.1228A>G (p.Thr410Ala) rs104894852
NM_000169.3(GLA):c.1235C>T (p.Thr412Ile) rs2147470514
NM_000169.3(GLA):c.1235_1236del (p.Thr412fs) rs797044777
NM_000169.3(GLA):c.1244T>C (p.Leu415Pro) rs112341092
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.125_137del (p.Met42fs) rs1603047806
NM_000169.3(GLA):c.1277_1278del (p.Lys426fs) rs869312249
NM_000169.3(GLA):c.127G>C (p.Gly43Arg) rs886044906
NM_000169.3(GLA):c.1284_1287del (p.Leu428fs) rs869312250
NM_000169.3(GLA):c.128G>T (p.Gly43Val) rs1928583820
NM_000169.3(GLA):c.128del (p.Gly43fs) rs797044500
NM_000169.3(GLA):c.131G>A (p.Trp44Ter) rs104894829
NM_000169.3(GLA):c.136C>T (p.His46Tyr) rs1928582757
NM_000169.3(GLA):c.141G>C (p.Trp47Cys) rs1555987101
NM_000169.3(GLA):c.146G>C (p.Arg49Pro) rs398123205
NM_000169.3(GLA):c.153G>A (p.Met51Ile) rs869312255
NM_000169.3(GLA):c.154T>C (p.Cys52Arg) rs1057521047
NM_000169.3(GLA):c.154dup (p.Cys52fs)
NM_000169.3(GLA):c.164_171delinsTCTGCCTA (p.Asp55_Gln57delinsValCysLeu) rs1569306036
NM_000169.3(GLA):c.166T>G (p.Cys56Gly) rs104894836
NM_000169.3(GLA):c.167G>A (p.Cys56Tyr) rs869312258
NM_000169.3(GLA):c.169C>T (p.Gln57Ter) rs869312259
NM_000169.3(GLA):c.188G>A (p.Cys63Tyr) rs1569306022
NM_000169.3(GLA):c.18del (p.Glu7fs) rs2147487830
NM_000169.3(GLA):c.190A>T (p.Ile64Phe) rs869312139
NM_000169.3(GLA):c.194+1222_998dup
NM_000169.3(GLA):c.194+1G>A rs868966337
NM_000169.3(GLA):c.194+1G>T
NM_000169.3(GLA):c.194G>C (p.Ser65Thr) rs104894848
NM_000169.3(GLA):c.195-1G>T rs398123206
NM_000169.3(GLA):c.19G>T (p.Glu7Ter) rs398123207
NM_000169.3(GLA):c.19_369+582del
NM_000169.3(GLA):c.1A>G (p.Met1Val) rs869312265
NM_000169.3(GLA):c.1_2del (p.Met1fs) rs2147487930
NM_000169.3(GLA):c.235G>T (p.Glu79Ter) rs730880443
NM_000169.3(GLA):c.242G>A (p.Trp81Ter) rs398123208
NM_000169.3(GLA):c.242G>C (p.Trp81Ser) rs398123208
NM_000169.3(GLA):c.254G>A (p.Gly85Asp) rs1569304898
NM_000169.3(GLA):c.256T>C (p.Tyr86His) rs869312140
NM_000169.3(GLA):c.26del (p.His9fs) rs1555987215
NM_000169.3(GLA):c.272T>A (p.Ile91Asn) rs869312141
NM_000169.3(GLA):c.272T>C (p.Ile91Thr) rs869312141
NM_000169.3(GLA):c.273_276dup (p.Asp93Ter) rs1928406808
NM_000169.3(GLA):c.274G>A (p.Asp92Asn) rs886041315
NM_000169.3(GLA):c.274G>C (p.Asp92His) rs886041315
NM_000169.3(GLA):c.277G>A (p.Asp93Asn) rs869312270
NM_000169.3(GLA):c.281G>A (p.Cys94Tyr) rs113173389
NM_000169.3(GLA):c.290C>T (p.Ala97Val) rs1569304867
NM_000169.3(GLA):c.295C>T (p.Gln99Ter) rs868937910
NM_000169.3(GLA):c.295del (p.Gln99fs) rs886039136
NM_000169.3(GLA):c.295dup (p.Gln99fs) rs886039136
NM_000169.3(GLA):c.298A>T (p.Arg100Ter) rs869312272
NM_000169.3(GLA):c.2T>A (p.Met1Lys) rs1555987232
NM_000169.3(GLA):c.2T>C (p.Met1Thr) rs1555987232
NM_000169.3(GLA):c.304del (p.Ser102fs)
NM_000169.3(GLA):c.307G>T (p.Glu103Ter) rs1569304851
NM_000169.3(GLA):c.31_43dup (p.Ala15fs) rs1928595440
NM_000169.3(GLA):c.32del (p.Gly11fs) rs869312278
NM_000169.3(GLA):c.334C>T (p.Arg112Cys) rs104894834
NM_000169.3(GLA):c.337T>C (p.Phe113Leu) rs869312142
NM_000169.3(GLA):c.337_354del (p.Phe113_Arg118del) rs2147480442
NM_000169.3(GLA):c.338T>C (p.Phe113Ser) rs2147480502
NM_000169.3(GLA):c.350T>G (p.Ile117Ser) rs12392549
NM_000169.3(GLA):c.355C>T (p.Gln119Ter) rs2147480438
NM_000169.3(GLA):c.369+1G>A rs797044669
NM_000169.3(GLA):c.369+2T>A rs387906483
NM_000169.3(GLA):c.369+2T>G rs387906483
NM_000169.3(GLA):c.370-1G>A rs869312287
NM_000169.3(GLA):c.370-2A>C rs730880444
NM_000169.3(GLA):c.370-530_1279del
NM_000169.3(GLA):c.370-532_1278del
NM_000169.3(GLA):c.374A>T (p.His125Leu)
NM_000169.3(GLA):c.379A>T (p.Lys127Ter) rs2147477845
NM_000169.3(GLA):c.383G>A (p.Gly128Glu)
NM_000169.3(GLA):c.386T>C (p.Leu129Pro) rs727503072
NM_000169.3(GLA):c.394G>A (p.Gly132Arg) rs1555985855
NM_000169.3(GLA):c.3G>A (p.Met1Ile) rs2147487910
NM_000169.3(GLA):c.402T>G (p.Tyr134Ter) rs1183869568
NM_000169.3(GLA):c.404C>T (p.Ala135Val) rs1569304221
NM_000169.3(GLA):c.406G>T (p.Asp136Tyr) rs1928326804
NM_000169.3(GLA):c.413G>A (p.Gly138Glu) rs1928326107
NM_000169.3(GLA):c.422C>T (p.Thr141Ile) rs886044843
NM_000169.3(GLA):c.426C>A (p.Cys142Ter)
NM_000169.3(GLA):c.427G>C (p.Ala143Pro) rs104894845
NM_000169.3(GLA):c.431G>T (p.Gly144Val) rs782085638
NM_000169.3(GLA):c.436C>T (p.Pro146Ser) rs104894837
NM_000169.3(GLA):c.437del (p.Pro146fs) rs2147477659
NM_000169.3(GLA):c.439G>A (p.Gly147Arg) rs1555985830
NM_000169.3(GLA):c.443G>A (p.Ser148Asn) rs1555985829
NM_000169.3(GLA):c.444T>G (p.Ser148Arg) rs1569304190
NM_000169.3(GLA):c.44C>A (p.Ala15Glu) rs869312304
NM_000169.3(GLA):c.451TAC[1] (p.Tyr152del) rs2147477618
NM_000169.3(GLA):c.453C>G (p.Tyr151Ter) rs869312305
NM_000169.3(GLA):c.456C>A (p.Tyr152Ter) rs1555985827
NM_000169.3(GLA):c.45del (p.Leu16fs) rs2147487659
NM_000169.3(GLA):c.460del (p.Ile154fs) rs2147477583
NM_000169.3(GLA):c.466G>A (p.Ala156Thr) rs28935195
NM_000169.3(GLA):c.469C>T (p.Gln157Ter) rs797044702
NM_000169.3(GLA):c.484T>C (p.Trp162Arg) rs28935196
NM_000169.3(GLA):c.485G>A (p.Trp162Ter) rs727504350
NM_000169.3(GLA):c.488del (p.Gly163fs)
NM_000169.3(GLA):c.496_497delinsGG (p.Leu166Gly) rs1603041916
NM_000169.3(GLA):c.4C>T (p.Gln2Ter) rs869312313
NM_000169.3(GLA):c.50_54del (p.Arg17fs) rs869312316
NM_000169.3(GLA):c.514T>C (p.Cys172Arg)
NM_000169.3(GLA):c.515G>A (p.Cys172Tyr) rs869312318
NM_000169.3(GLA):c.520T>C (p.Cys174Arg) rs181562693
NM_000169.3(GLA):c.540G>T (p.Leu180Phe) rs869312145
NM_000169.3(GLA):c.547+1G>A rs869312320
NM_000169.3(GLA):c.547G>A (p.Gly183Ser) rs869312324
NM_000169.3(GLA):c.559_560del (p.Met187fs) rs1928287177
NM_000169.3(GLA):c.561G>A (p.Met187Ile) rs869312146
NM_000169.3(GLA):c.564del (p.Leu189fs)
NM_000169.3(GLA):c.573del (p.Asn192fs)
NM_000169.3(GLA):c.59C>A (p.Ala20Asp) rs869312134
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.604T>C (p.Cys202Arg) rs1569303843
NM_000169.3(GLA):c.605G>A (p.Cys202Tyr) rs869312344
NM_000169.3(GLA):c.606T>G (p.Cys202Trp) rs104894838
NM_000169.3(GLA):c.610T>C (p.Trp204Arg) rs869312148
NM_000169.3(GLA):c.611G>A (p.Trp204Ter) rs869312346
NM_000169.3(GLA):c.613C>A (p.Pro205Thr) rs397515870
NM_000169.3(GLA):c.622_623del (p.Met208fs) rs1064796601
NM_000169.3(GLA):c.62T>C (p.Leu21Pro) rs869312135
NM_000169.3(GLA):c.638A>G (p.Lys213Arg) rs869312149
NM_000169.3(GLA):c.640-1G>A rs398123216
NM_000169.3(GLA):c.640-2A>G rs2147473470
NM_000169.3(GLA):c.646T>G (p.Tyr216Asp) rs1928199003
NM_000169.3(GLA):c.646dup (p.Tyr216fs) rs1928199153
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.666C>A (p.Tyr222Ter) rs104894851
NM_000169.3(GLA):c.666C>G (p.Tyr222Ter)
NM_000169.3(GLA):c.668G>A (p.Cys223Tyr) rs869312382
NM_000169.3(GLA):c.671A>G (p.Asn224Ser) rs869312383
NM_000169.3(GLA):c.680G>A (p.Arg227Gln) rs104894840
NM_000169.3(GLA):c.680G>C (p.Arg227Pro) rs104894840
NM_000169.3(GLA):c.707G>A (p.Trp236Ter) rs879254022
NM_000169.3(GLA):c.708G>T (p.Trp236Cys) rs869312386
NM_000169.3(GLA):c.713G>A (p.Ser238Asn) rs730880450
NM_000169.3(GLA):c.718_719del (p.Lys240fs) rs869312389
NM_000169.3(GLA):c.722del (p.Ser241fs) rs2147473129
NM_000169.3(GLA):c.723dup (p.Ile242fs) rs869312391
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.751G>T (p.Glu251Ter) rs1928189534
NM_000169.3(GLA):c.758T>C (p.Ile253Thr) rs727505292
NM_000169.3(GLA):c.770C>T (p.Ala257Val) rs1569303218
NM_000169.3(GLA):c.774_775del (p.Pro259fs) rs869312398
NM_000169.3(GLA):c.776C>G (p.Pro259Arg) rs869312399
NM_000169.3(GLA):c.777del (p.Gly261fs) rs1569303213
NM_000169.3(GLA):c.782G>A (p.Gly261Asp) rs869312401
NM_000169.3(GLA):c.782G>T (p.Gly261Val) rs869312401
NM_000169.3(GLA):c.782del (p.Gly261fs) rs869312400
NM_000169.3(GLA):c.784T>C (p.Trp262Arg) rs869312154
NM_000169.3(GLA):c.786dup (p.Asn263fs) rs1555985091
NM_000169.3(GLA):c.790G>T (p.Asp264Tyr) rs190347120
NM_000169.3(GLA):c.791A>T (p.Asp264Val) rs28935486
NM_000169.3(GLA):c.796G>A (p.Asp266Asn) rs869312407
NM_000169.3(GLA):c.797A>T (p.Asp266Val) rs28935487
NM_000169.3(GLA):c.801+3A>G rs797044748
NM_000169.3(GLA):c.801G>A (p.Met267Ile) rs730880451
NM_000169.3(GLA):c.802-3_802-2del rs797044498
NM_000169.3(GLA):c.805G>A (p.Val269Met) rs869312427
NM_000169.3(GLA):c.806T>C (p.Val269Ala) rs28935488
NM_000169.3(GLA):c.806T>G (p.Val269Gly) rs28935488
NM_000169.3(GLA):c.809T>C (p.Ile270Thr)
NM_000169.3(GLA):c.80del (p.Pro27fs) rs730880454
NM_000169.3(GLA):c.811G>A (p.Gly271Ser) rs1928174707
NM_000169.3(GLA):c.815A>G (p.Asn272Ser) rs28935495
NM_000169.3(GLA):c.824_825del (p.Leu275fs) rs1928173731
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.835C>T (p.Gln279Ter) rs28935485
NM_000169.3(GLA):c.842dup (p.Thr282fs)
NM_000169.3(GLA):c.847C>T (p.Gln283Ter) rs730880452
NM_000169.3(GLA):c.848dup (p.Met284fs) rs1555985002
NM_000169.3(GLA):c.851T>C (p.Met284Thr) rs1928171557
NM_000169.3(GLA):c.85dup (p.Ala29fs) rs1569306181
NM_000169.3(GLA):c.861G>A (p.Trp287Ter) rs104894839
NM_000169.3(GLA):c.863del (p.Ala288fs) rs1569303030
NM_000169.3(GLA):c.870G>A (p.Met290Ile) rs869312438
NM_000169.3(GLA):c.884T>G (p.Phe295Cys) rs1928168711
NM_000169.3(GLA):c.886A>G (p.Met296Val) rs104894830
NM_000169.3(GLA):c.888G>T (p.Met296Ile) rs104894846
NM_000169.3(GLA):c.890C>T (p.Ser297Phe) rs28935489
NM_000169.3(GLA):c.894T>A (p.Asn298Lys) rs869312444
NM_000169.3(GLA):c.899T>C (p.Leu300Pro) rs398123223
NM_000169.3(GLA):c.901C>G (p.Arg301Gly) rs398123224
NM_000169.3(GLA):c.901C>T (p.Arg301Ter) rs398123224
NM_000169.3(GLA):c.901del (p.Arg301fs)
NM_000169.3(GLA):c.902G>A (p.Arg301Gln) rs104894828
NM_000169.3(GLA):c.902G>C (p.Arg301Pro) rs104894828
NM_000169.3(GLA):c.902dup (p.His302fs) rs1928166458
NM_000169.3(GLA):c.936G>C (p.Gln312His)
NM_000169.3(GLA):c.946_947insACGACACATCAGCCCTCAAGCCAAAGCTCTCCTTCAGGATAAGGACG (p.Val316fs) rs2147471979
NM_000169.3(GLA):c.947dup (p.Ile317fs) rs869312452
NM_000169.3(GLA):c.950T>C (p.Ile317Thr) rs869312158
NM_000169.3(GLA):c.950T>G (p.Ile317Ser) rs869312158
NM_000169.3(GLA):c.950_954dup (p.Ile319fs) rs1603038220
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.962A>G (p.Gln321Arg) rs1928161905
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.969del (p.Leu324fs) rs2147471863
NM_000169.3(GLA):c.974G>A (p.Gly325Asp) rs398123228
NM_000169.3(GLA):c.979C>A (p.Gln327Lys) rs28935491
NM_000169.3(GLA):c.980A>G (p.Gln327Arg) rs869312160
NM_000169.3(GLA):c.980A>T (p.Gln327Leu) rs869312160
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.98A>G (p.Asp33Gly) rs869312136
NM_000169.3(GLA):c.994dup (p.Arg332fs) rs1569302887
NM_000169.3(GLA):c.996_999del (p.Gln333fs) rs398123229
NM_000169.3(GLA):c.999+1G>T rs1603038103
NM_000169.3(GLA):c.999+2T>C rs886044860
NM_000169.3(GLA):c.[370-183_547+41del;370-192A>C]
NM_001195518.2(MICU1):c.355C>T (p.Arg119Ter) rs538329212
NM_001199973.2(RPL36A-HNRNPH2):c.300+3109_300+3112del rs869312426
NM_001199973.2(RPL36A-HNRNPH2):c.300+3399C>T rs727503948
NM_001199973.2(RPL36A-HNRNPH2):c.300+5301del
Single allele

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