ClinVar Miner

List of variants in gene GAA reported as likely pathogenic by Counsyl

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Gene type:
ClinVar version:
Total variants: 124
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HGVS dbSNP
NM_000152.5(GAA):c.-32-1G>C rs1555598460
NM_000152.5(GAA):c.-32-3C>A rs1055945806
NM_000152.5(GAA):c.1051del (p.Val351fs) rs786204507
NM_000152.5(GAA):c.1076-1G>A rs1555600050
NM_000152.5(GAA):c.1076-22T>G rs762260678
NM_000152.5(GAA):c.1076-2A>G rs1057516290
NM_000152.5(GAA):c.1099del (p.Trp367fs) rs1057516785
NM_000152.5(GAA):c.1115A>T (p.His372Leu) rs1057516520
NM_000152.5(GAA):c.1124G>T (p.Arg375Leu) rs142752477
NM_000152.5(GAA):c.1128_1129delinsC (p.Trp376fs) rs786204646
NM_000152.5(GAA):c.1143del (p.Ala382fs) rs757458607
NM_000152.5(GAA):c.1156C>T (p.Gln386Ter) rs786204517
NM_000152.5(GAA):c.1165del (p.Glu389fs) rs1555600111
NM_000152.5(GAA):c.1192dup (p.Leu398fs) rs1057516546
NM_000152.5(GAA):c.1193del (p.Leu398fs) rs1057517286
NM_000152.5(GAA):c.1194+2T>C rs1057516215
NM_000152.5(GAA):c.1195-1G>A rs1555600166
NM_000152.5(GAA):c.1222A>G (p.Met408Val) rs560575383
NM_000152.5(GAA):c.1292_1295dup (p.Gln433fs) rs996798292
NM_000152.5(GAA):c.1309C>T (p.Arg437Cys) rs770610356
NM_000152.5(GAA):c.1316T>A (p.Met439Lys) rs747610090
NM_000152.5(GAA):c.1326+2T>C rs1434761678
NM_000152.5(GAA):c.1411_1414del (p.Glu471fs) rs770276275
NM_000152.5(GAA):c.1432G>A (p.Gly478Arg) rs778068209
NM_000152.5(GAA):c.1438-1G>C rs147804176
NM_000152.5(GAA):c.1438-2A>G rs1555600730
NM_000152.5(GAA):c.1441T>C (p.Trp481Arg) rs772883420
NM_000152.5(GAA):c.1447G>A (p.Gly483Arg) rs770590394
NM_000152.5(GAA):c.1465G>A (p.Asp489Asn) rs398123169
NM_000152.5(GAA):c.1478C>T (p.Pro493Leu) rs148842275
NM_000152.5(GAA):c.1496G>A (p.Trp499Ter) rs766680292
NM_000152.5(GAA):c.1548G>A (p.Trp516Ter) rs140826989
NM_000152.5(GAA):c.1552-2A>G rs1555600846
NM_000152.5(GAA):c.1552-3C>G rs375470378
NM_000152.5(GAA):c.1556T>C (p.Met519Thr) rs786204720
NM_000152.5(GAA):c.1561G>A (p.Glu521Lys) rs121907937
NM_000152.5(GAA):c.1564C>G (p.Pro522Ala) rs892129065
NM_000152.5(GAA):c.1567del (p.Ser523fs) rs1057517267
NM_000152.5(GAA):c.1687C>T (p.Gln563Ter) rs1057516426
NM_000152.5(GAA):c.169C>T (p.Gln57Ter) rs1057516251
NM_000152.5(GAA):c.172C>T (p.Gln58Ter) rs201185475
NM_000152.5(GAA):c.1799G>A (p.Arg600His) rs377544304
NM_000152.5(GAA):c.1824_1828dup (p.Ala610fs) rs1057516826
NM_000152.5(GAA):c.1826dup (p.Tyr609Ter) rs786204727
NM_000152.5(GAA):c.1827del (p.Arg608_Tyr609insTer) rs781088002
NM_000152.5(GAA):c.1832G>A (p.Gly611Asp) rs1057517105
NM_000152.5(GAA):c.1841C>A (p.Thr614Lys) rs369531647
NM_000152.5(GAA):c.1843G>A (p.Gly615Arg) rs549029029
NM_000152.5(GAA):c.1856G>A (p.Ser619Asn) rs753269119
NM_000152.5(GAA):c.1857C>G (p.Ser619Arg) rs914396317
NM_000152.5(GAA):c.1933G>A (p.Asp645Asn) rs368438393
NM_000152.5(GAA):c.1933G>C (p.Asp645His) rs368438393
NM_000152.5(GAA):c.1933G>T (p.Asp645Tyr) rs368438393
NM_000152.5(GAA):c.1941C>G (p.Cys647Trp) rs776948121
NM_000152.5(GAA):c.1942G>A (p.Gly648Ser) rs536906561
NM_000152.5(GAA):c.1978C>T (p.Arg660Cys) rs759518659
NM_000152.5(GAA):c.1979G>A (p.Arg660His) rs374143224
NM_000152.5(GAA):c.1A>G (p.Met1Val) rs786204467
NM_000152.5(GAA):c.2014C>T (p.Arg672Trp) rs757111744
NM_000152.5(GAA):c.2015G>A (p.Arg672Gln) rs778418246
NM_000152.5(GAA):c.2021_2023ACA[1] (p.Asn675del) rs786204621
NM_000152.5(GAA):c.2040+1G>T rs1057516928
NM_000152.5(GAA):c.2040+1del rs1555601662
NM_000152.5(GAA):c.2104C>T (p.Arg702Cys) rs786204645
NM_000152.5(GAA):c.2105G>A (p.Arg702His) rs398123172
NM_000152.5(GAA):c.2136_2137del (p.Phe713fs) rs1555601780
NM_000152.5(GAA):c.2140del (p.His714fs) rs786204549
NM_000152.5(GAA):c.2161dup (p.Glu721fs) rs1555601802
NM_000152.5(GAA):c.2173C>T (p.Arg725Trp) rs121907938
NM_000152.5(GAA):c.2185del (p.Leu729fs) rs1057516581
NM_000152.5(GAA):c.2189+1G>T rs1209887739
NM_000152.5(GAA):c.2213G>A (p.Trp738Ter) rs1057516327
NM_000152.5(GAA):c.2214G>A (p.Trp738Ter) rs1057516328
NM_000152.5(GAA):c.2227C>T (p.Gln743Ter) rs1057516277
NM_000152.5(GAA):c.2237G>C (p.Trp746Ser) rs752921215
NM_000152.5(GAA):c.2238G>A (p.Trp746Ter) rs1800312
NM_000152.5(GAA):c.2242G>T (p.Glu748Ter) rs1057516363
NM_000152.5(GAA):c.2242del (p.Glu748fs) rs777275355
NM_000152.5(GAA):c.2242dup (p.Glu748fs) rs777275355
NM_000152.5(GAA):c.2281delinsAT (p.Ala761fs) rs1057516924
NM_000152.5(GAA):c.2300del (p.Phe767fs) rs1555602692
NM_000152.5(GAA):c.2367dup (p.Pro790fs) rs1555602860
NM_000152.5(GAA):c.241C>T (p.Gln81Ter) rs1555598687
NM_000152.5(GAA):c.2493_2494CA[1] (p.Thr832fs) rs1057516704
NM_000152.5(GAA):c.258del (p.Asn87fs) rs761317813
NM_000152.5(GAA):c.2608C>T (p.Arg870Ter) rs780321415
NM_000152.5(GAA):c.2617dup (p.Tyr873fs) rs1555603131
NM_000152.5(GAA):c.2646+2T>A rs786204561
NM_000152.5(GAA):c.2647-1_2648del rs1555603216
NM_000152.5(GAA):c.2647-7G>A rs192679574
NM_000152.5(GAA):c.2704C>T (p.Gln902Ter) rs1057516341
NM_000152.5(GAA):c.2706del (p.Lys903fs) rs1428358278
NM_000152.5(GAA):c.2799+2C>A rs1555603318
NM_000152.5(GAA):c.281_282del (p.Pro94fs) rs1057516503
NM_000152.5(GAA):c.2853del (p.Trp951fs) rs1555603434
NM_000152.5(GAA):c.343C>T (p.Gln115Ter) rs786204614
NM_000152.5(GAA):c.352C>T (p.Gln118Ter) rs1555598800
NM_000152.5(GAA):c.365del (p.Met122fs) rs786204661
NM_000152.5(GAA):c.376del (p.Trp126fs) rs1555598824
NM_000152.5(GAA):c.393del (p.Ser132fs) rs1057517381
NM_000152.5(GAA):c.437del (p.Met146fs) rs1555598869
NM_000152.5(GAA):c.448dup (p.Ala150fs) rs1555598880
NM_000152.5(GAA):c.471del (p.Thr158fs) rs1057517320
NM_000152.5(GAA):c.525_526del (p.Asn177fs) rs767882689
NM_000152.5(GAA):c.546G>A (p.Thr182=) rs143523371
NM_000152.5(GAA):c.546G>T (p.Thr182=) rs143523371
NM_000152.5(GAA):c.55del (p.Val19fs) rs1555598544
NM_000152.5(GAA):c.569G>A (p.Arg190His) rs528367092
NM_000152.5(GAA):c.573C>A (p.Tyr191Ter) rs376229714
NM_000152.5(GAA):c.655G>A (p.Gly219Arg) rs370950728
NM_000152.5(GAA):c.670C>T (p.Arg224Trp) rs757700700
NM_000152.5(GAA):c.692+2T>C rs1555599171
NM_000152.5(GAA):c.709_710GC[3] (p.Pro238fs) rs1555599586
NM_000152.5(GAA):c.716del (p.Leu239fs) rs1555599594
NM_000152.5(GAA):c.736del (p.Leu246fs) rs886043920
NM_000152.5(GAA):c.755dup (p.Pro253fs) rs1555599619
NM_000152.5(GAA):c.766_767insC (p.Tyr256fs) rs1555599637
NM_000152.5(GAA):c.766_785delinsC (p.Tyr256fs) rs786204532
NM_000152.5(GAA):c.768dup (p.Ile257fs) rs1555599644
NM_000152.5(GAA):c.784G>A (p.Glu262Lys) rs201896815
NM_000152.5(GAA):c.796C>T (p.Pro266Ser) rs1555599667
NM_000152.5(GAA):c.875A>G (p.Tyr292Cys) rs1057516600
NM_000152.5(GAA):c.925G>A (p.Gly309Arg) rs543300039
NM_000152.5(GAA):c.989G>A (p.Trp330Ter) rs1555599960

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