ClinVar Miner

List of variants in gene GAA reported by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 301
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HGVS dbSNP
NC_000017.11:g.(?_80104542)_(80105914_?)del
NC_000017.11:g.(?_80104542)_(80119351_?)dup
NC_000017.11:g.(?_80107537)_(80113386_?)del
NC_000017.11:g.(?_80118193)_(80118357_?)del
NM_000152.3(GAA):c.1123C>T (p.Arg375Cys) rs372486238
NM_000152.3(GAA):c.131G>T (p.Gly44Val) rs550609502
NM_000152.3(GAA):c.1375G>A (p.Asp459Asn) rs535644999
NM_000152.3(GAA):c.1392G>C (p.Arg464Ser) rs372786811
NM_000152.3(GAA):c.1437+8G>A rs779194427
NM_000152.3(GAA):c.1504A>G (p.Met502Val) rs376067362
NM_000152.3(GAA):c.1552-3C>G rs375470378
NM_000152.3(GAA):c.1843G>A (p.Gly615Arg) rs549029029
NM_000152.3(GAA):c.1933G>A (p.Asp645Asn) rs368438393
NM_000152.3(GAA):c.1979G>A (p.Arg660His) rs374143224
NM_000152.3(GAA):c.2065G>A (p.Glu689Lys) rs1800309
NM_000152.3(GAA):c.2069C>T (p.Pro690Leu) rs532624326
NM_000152.3(GAA):c.2105G>A (p.Arg702His) rs398123172
NM_000152.3(GAA):c.2156C>A (p.Ala719Glu) rs146762316
NM_000152.3(GAA):c.2237G>A (p.Trp746Ter) rs752921215
NM_000152.3(GAA):c.2238G>A (p.Trp746Ter) rs1800312
NM_000152.3(GAA):c.2560C>T (p.Arg854Ter) rs121907943
NM_000152.3(GAA):c.2561G>A (p.Arg854Gln) rs149968110
NM_000152.3(GAA):c.2662G>T (p.Glu888Ter)
NM_000152.3(GAA):c.271G>A (p.Asp91Asn) rs1800299
NM_000152.3(GAA):c.32G>A (p.Arg11Gln) rs138812846
NM_000152.3(GAA):c.447G>A (p.Thr149=) rs2289536
NM_000152.3(GAA):c.503G>A (p.Arg168Gln) rs376685205
NM_000152.3(GAA):c.525delT (p.Glu176Argfs) rs386834235
NM_000152.3(GAA):c.607C>T (p.Arg203Trp) rs751286274
NM_000152.3(GAA):c.655G>A (p.Gly219Arg) rs370950728
NM_000152.3(GAA):c.670C>T (p.Arg224Trp) rs757700700
NM_000152.3(GAA):c.688G>A (p.Val230Met) rs145866792
NM_000152.3(GAA):c.752C>T (p.Ser251Leu) rs200856561
NM_000152.3(GAA):c.761C>T (p.Ser254Leu) rs577915581
NM_000152.3(GAA):c.784G>A (p.Glu262Lys) rs201896815
NM_000152.3(GAA):c.841C>T (p.Arg281Trp) rs142967546
NM_000152.4(GAA):c.-32-13T>G rs386834236
NM_000152.4(GAA):c.1035A>C (p.Pro345=) rs942325926
NM_000152.4(GAA):c.1048G>A (p.Val350Met) rs200412003
NM_000152.4(GAA):c.109C>G (p.Leu37Val)
NM_000152.4(GAA):c.1114C>T (p.His372Tyr)
NM_000152.4(GAA):c.1124G>A (p.Arg375His)
NM_000152.4(GAA):c.1143C>T (p.Thr381=) rs111832449
NM_000152.4(GAA):c.1147A>G (p.Ile383Val) rs794727837
NM_000152.4(GAA):c.1153C>T (p.Arg385Cys)
NM_000152.4(GAA):c.1190C>T (p.Pro397Leu) rs776008078
NM_000152.4(GAA):c.1193delT (p.Leu398Argfs) rs1057517286
NM_000152.4(GAA):c.1194+3G>C rs368539333
NM_000152.4(GAA):c.1194+6T>C
NM_000152.4(GAA):c.1195-8G>A
NM_000152.4(GAA):c.1198G>A (p.Val400Ile)
NM_000152.4(GAA):c.119G>A (p.Arg40Gln) rs374476196
NM_000152.4(GAA):c.11G>A (p.Arg4Lys) rs372147077
NM_000152.4(GAA):c.1232G>C (p.Arg411Pro) rs372799904
NM_000152.4(GAA):c.1245G>A (p.Thr415=) rs760920034
NM_000152.4(GAA):c.1264C>T (p.Arg422Trp) rs776704385
NM_000152.4(GAA):c.1265G>A (p.Arg422Gln) rs2229224
NM_000152.4(GAA):c.1274C>T (p.Pro425Leu) rs765235868
NM_000152.4(GAA):c.1285C>G (p.Gln429Glu) rs528369909
NM_000152.4(GAA):c.1286A>G (p.Gln429Arg) rs200294882
NM_000152.4(GAA):c.1288G>A (p.Glu430Lys) rs375433002
NM_000152.4(GAA):c.1298A>G (p.Gln433Arg) rs201463496
NM_000152.4(GAA):c.1310G>A (p.Arg437His) rs150868652
NM_000152.4(GAA):c.1320G>T (p.Met440Ile) rs550837627
NM_000152.4(GAA):c.1320_1322del (p.Met440del) rs1555600235
NM_000152.4(GAA):c.1326+8C>A rs762988038
NM_000152.4(GAA):c.1332T>C (p.Pro444=) rs200007324
NM_000152.4(GAA):c.1343G>C (p.Ser448Thr) rs145712232
NM_000152.4(GAA):c.1343G>T (p.Ser448Ile) rs145712232
NM_000152.4(GAA):c.1352C>G (p.Pro451Arg) rs7215458
NM_000152.4(GAA):c.1357G>A (p.Gly453Arg) rs550065979
NM_000152.4(GAA):c.1372T>C (p.Tyr458His)
NM_000152.4(GAA):c.1375G>C (p.Asp459His) rs535644999
NM_000152.4(GAA):c.1396G>C (p.Val466Leu) rs375006053
NM_000152.4(GAA):c.1409A>C (p.Asn470Thr) rs144155165
NM_000152.4(GAA):c.1416C>T (p.Thr472=) rs368492669
NM_000152.4(GAA):c.1417G>A (p.Gly473Ser) rs201409613
NM_000152.4(GAA):c.1425G>A (p.Pro475=) rs753140491
NM_000152.4(GAA):c.1438-2A>G rs1555600730
NM_000152.4(GAA):c.1438-9G>A rs202211401
NM_000152.4(GAA):c.1440A>G (p.Val480=) rs1555600737
NM_000152.4(GAA):c.1447G>A (p.Gly483Arg) rs770590394
NM_000152.4(GAA):c.1482A>G (p.Thr494=) rs202064115
NM_000152.4(GAA):c.1488G>A (p.Leu496=) rs750777002
NM_000152.4(GAA):c.148G>A (p.Glu50Lys) rs1555598609
NM_000152.4(GAA):c.1536C>T (p.Phe512=) rs143491365
NM_000152.4(GAA):c.1552-14_1552-1del
NM_000152.4(GAA):c.1593C>T (p.Asp531=) rs138732016
NM_000152.4(GAA):c.1599C>T (p.Cys533=) rs142766716
NM_000152.4(GAA):c.1607A>G (p.Asn536Ser) rs368568190
NM_000152.4(GAA):c.1629C>T (p.Tyr543=) rs372193105
NM_000152.4(GAA):c.1631T>A (p.Val544Glu)
NM_000152.4(GAA):c.1726G>A (p.Gly576Ser) rs1800307
NM_000152.4(GAA):c.1727G>A (p.Gly576Asp) rs1555601255
NM_000152.4(GAA):c.1743C>T (p.Ile581=) rs527970795
NM_000152.4(GAA):c.1750C>A (p.His584Asn) rs780475756
NM_000152.4(GAA):c.1753A>T (p.Arg585Trp) rs1555601273
NM_000152.4(GAA):c.1758G>A (p.Ala586=) rs79795428
NM_000152.4(GAA):c.17C>T (p.Pro6Leu) rs771409180
NM_000152.4(GAA):c.1803G>A (p.Ser601=) rs368993048
NM_000152.4(GAA):c.1819G>A (p.Gly607Ser) rs940955642
NM_000152.4(GAA):c.1823G>A (p.Arg608Gln) rs377126280
NM_000152.4(GAA):c.1827delC (p.Tyr609Terfs) rs781088002
NM_000152.4(GAA):c.1828G>A (p.Ala610Thr) rs144731405
NM_000152.4(GAA):c.1830C>T (p.Ala610=) rs61736896
NM_000152.4(GAA):c.183C>T (p.Ser61=) rs17853995
NM_000152.4(GAA):c.1841C>A (p.Thr614Lys) rs369531647
NM_000152.4(GAA):c.1841C>T (p.Thr614Met) rs369531647
NM_000152.4(GAA):c.1842G>A (p.Thr614=) rs373955374
NM_000152.4(GAA):c.1848C>T (p.Asp616=) rs377175810
NM_000152.4(GAA):c.1876T>G (p.Ser626Ala) rs1235035841
NM_000152.4(GAA):c.1882G>A (p.Val628Met)
NM_000152.4(GAA):c.1884G>C (p.Val628=) rs780130036
NM_000152.4(GAA):c.1888+5G>T rs528282884
NM_000152.4(GAA):c.1914G>A (p.Gly638=) rs1305357140
NM_000152.4(GAA):c.1920T>G (p.Pro640=) rs144090460
NM_000152.4(GAA):c.1929G>A (p.Gly643=) rs371096565
NM_000152.4(GAA):c.1932C>T (p.Ala644=) rs746194098
NM_000152.4(GAA):c.1935C>A (p.Asp645Glu) rs28940868
NM_000152.4(GAA):c.1941C>G (p.Cys647Trp) rs776948121
NM_000152.4(GAA):c.1942G>A (p.Gly648Ser) rs536906561
NM_000152.4(GAA):c.1947C>A (p.Phe649Leu)
NM_000152.4(GAA):c.1948C>A (p.Leu650Met) rs1359573192
NM_000152.4(GAA):c.194C>A (p.Pro65His) rs1482530928
NM_000152.4(GAA):c.197G>A (p.Arg66Gln) rs200202628
NM_000152.4(GAA):c.1996G>A (p.Ala666Thr)
NM_000152.4(GAA):c.1996G>T (p.Ala666Ser) rs916566117
NM_000152.4(GAA):c.2041-4G>T rs775757700
NM_000152.4(GAA):c.2050C>T (p.Pro684Ser) rs776486462
NM_000152.4(GAA):c.2052G>A (p.Pro684=) rs546463058
NM_000152.4(GAA):c.2055C>T (p.Tyr685=) rs750214208
NM_000152.4(GAA):c.2092G>A (p.Ala698Thr) rs367632754
NM_000152.4(GAA):c.2109C>T (p.Tyr703=) rs150728610
NM_000152.4(GAA):c.2132_2133delCAinsGG (p.Thr711Arg) rs1555601773
NM_000152.4(GAA):c.2140C>T (p.His714Tyr)
NM_000152.4(GAA):c.2140delC (p.His714Thrfs) rs786204549
NM_000152.4(GAA):c.2151C>T (p.His717=) rs758725073
NM_000152.4(GAA):c.2152G>A (p.Val718Ile) rs141017311
NM_000152.4(GAA):c.2154C>T (p.Val718=) rs1800311
NM_000152.4(GAA):c.2155G>T (p.Ala719Ser) rs143324027
NM_000152.4(GAA):c.2157G>A (p.Ala719=) rs201523530
NM_000152.4(GAA):c.2161G>C (p.Glu721Gln) rs140376273
NM_000152.4(GAA):c.216C>T (p.Pro72=) rs753287841
NM_000152.4(GAA):c.2179C>T (p.Leu727Phe)
NM_000152.4(GAA):c.2182T>C (p.Phe728Leu)
NM_000152.4(GAA):c.2190-10C>A
NM_000152.4(GAA):c.2190-4G>A rs759974338
NM_000152.4(GAA):c.2207G>A (p.Ser736Asn) rs553430197
NM_000152.4(GAA):c.2215A>T (p.Thr739Ser) rs578245757
NM_000152.4(GAA):c.2218G>A (p.Val740Met) rs752122499
NM_000152.4(GAA):c.2221G>A (p.Asp741Asn)
NM_000152.4(GAA):c.2223C>G (p.Asp741Glu) rs767773929
NM_000152.4(GAA):c.2230C>T (p.Leu744Phe) rs1347832021
NM_000152.4(GAA):c.2238G>C (p.Trp746Cys) rs1800312
NM_000152.4(GAA):c.223C>T (p.Pro75Ser)
NM_000152.4(GAA):c.2245G>T (p.Ala749Ser) rs148311222
NM_000152.4(GAA):c.2253C>T (p.Leu751=) rs140441758
NM_000152.4(GAA):c.2274C>T (p.Ala758=) rs150431943
NM_000152.4(GAA):c.2275G>A (p.Gly759Arg) rs138183791
NM_000152.4(GAA):c.2283C>T (p.Ala761=) rs774769974
NM_000152.4(GAA):c.2284G>A (p.Glu762Lys) rs760063214
NM_000152.4(GAA):c.229G>T (p.Ala77Ser)
NM_000152.4(GAA):c.2307G>C (p.Leu769Phe) rs372800172
NM_000152.4(GAA):c.2323C>A (p.Leu775Met) rs147290429
NM_000152.4(GAA):c.2330C>T (p.Thr777Met) rs746779016
NM_000152.4(GAA):c.2330_2331+4dup
NM_000152.4(GAA):c.2331G>A (p.Thr777=)
NM_000152.4(GAA):c.2332-10C>G rs373606162
NM_000152.4(GAA):c.2332-1G>C rs1555602832
NM_000152.4(GAA):c.2381G>A (p.Arg794His)
NM_000152.4(GAA):c.2395C>T (p.His799Tyr) rs143347747
NM_000152.4(GAA):c.2400C>T (p.Ser800=) rs115705591
NM_000152.4(GAA):c.2404G>A (p.Gly802Arg) rs148412962
NM_000152.4(GAA):c.2415G>A (p.Val805=) rs150536507
NM_000152.4(GAA):c.2417C>T (p.Thr806Met) rs139850074
NM_000152.4(GAA):c.2423C>T (p.Pro808Leu) rs773498009
NM_000152.4(GAA):c.2430C>T (p.Pro810=) rs554839058
NM_000152.4(GAA):c.2455C>T (p.Arg819Trp) rs61736895
NM_000152.4(GAA):c.2456G>A (p.Arg819Gln) rs374687883
NM_000152.4(GAA):c.2458G>T (p.Ala820Ser)
NM_000152.4(GAA):c.2459_2461delCTG (p.Ala820del) rs1182634884
NM_000152.4(GAA):c.2467A>T (p.Ile823Phe) rs758038288
NM_000152.4(GAA):c.2478G>A (p.Leu826=) rs201183207
NM_000152.4(GAA):c.247G>A (p.Asp83Asn) rs771101156
NM_000152.4(GAA):c.2481+6T>C rs1479232207
NM_000152.4(GAA):c.2495C>T (p.Thr832Ile) rs1555603057
NM_000152.4(GAA):c.249C>T (p.Asp83=) rs377351519
NM_000152.4(GAA):c.2505G>C (p.Glu835Asp)
NM_000152.4(GAA):c.2509C>T (p.Arg837Cys) rs752421149
NM_000152.4(GAA):c.250G>A (p.Val84Ile)
NM_000152.4(GAA):c.2515C>A (p.Gln839Lys)
NM_000152.4(GAA):c.2521A>G (p.Met841Val) rs1184116513
NM_000152.4(GAA):c.2571G>T (p.Leu857=) rs17853996
NM_000152.4(GAA):c.2580C>T (p.Asp860=) rs61736894
NM_000152.4(GAA):c.258C>A (p.Pro86=) rs146615896
NM_000152.4(GAA):c.258dupC (p.Asn87Glnfs) rs761317813
NM_000152.4(GAA):c.2597A>T (p.Glu866Val) rs951742543
NM_000152.4(GAA):c.2609G>A (p.Arg870Gln) rs747076541
NM_000152.4(GAA):c.2647-6G>T rs201525743
NM_000152.4(GAA):c.2647-8C>T rs139201641
NM_000152.4(GAA):c.2652G>A (p.Thr884=) rs143642048
NM_000152.4(GAA):c.2655C>T (p.Ile885=) rs774840779
NM_000152.4(GAA):c.265C>T (p.Arg89Cys) rs534192892
NM_000152.4(GAA):c.2668G>C (p.Val890Leu) rs377286472
NM_000152.4(GAA):c.266G>A (p.Arg89His) rs200586324
NM_000152.4(GAA):c.270C>T (p.Phe90=) rs768078324
NM_000152.4(GAA):c.2725G>A (p.Val909Met) rs138407065
NM_000152.4(GAA):c.2732C>T (p.Thr911Met) rs1027032995
NM_000152.4(GAA):c.2736G>A (p.Ala912=) rs142472738
NM_000152.4(GAA):c.2739C>G (p.Pro913=) rs370765733
NM_000152.4(GAA):c.2740C>T (p.Gln914Ter) rs1555603264
NM_000152.4(GAA):c.2751C>T (p.Leu917=) rs146507838
NM_000152.4(GAA):c.2758G>A (p.Gly920Ser) rs375021198
NM_000152.4(GAA):c.2761G>T (p.Val921Phe) rs1555603286
NM_000152.4(GAA):c.2776T>C (p.Phe926Leu) rs1555603301
NM_000152.4(GAA):c.277G>A (p.Ala93Thr) rs142481170
NM_000152.4(GAA):c.2780C>T (p.Thr927Ile) rs1800315
NM_000152.4(GAA):c.2799+2C>T
NM_000152.4(GAA):c.2833G>C (p.Glu945Gln) rs1034101189
NM_000152.4(GAA):c.286A>G (p.Lys96Glu)
NM_000152.4(GAA):c.309C>T (p.Cys103=)
NM_000152.4(GAA):c.317G>A (p.Arg106His) rs772534106
NM_000152.4(GAA):c.318C>T (p.Arg106=) rs762542246
NM_000152.4(GAA):c.319G>A (p.Gly107Ser) rs151323405
NM_000152.4(GAA):c.31C>G (p.Arg11Gly) rs772394815
NM_000152.4(GAA):c.31C>T (p.Arg11Trp) rs772394815
NM_000152.4(GAA):c.342del (p.Lys114Asnfs) rs1555598796
NM_000152.4(GAA):c.347G>C (p.Gly116Ala) rs754285414
NM_000152.4(GAA):c.351G>A (p.Leu117=) rs574947353
NM_000152.4(GAA):c.355G>A (p.Gly119Arg) rs1555598802
NM_000152.4(GAA):c.359C>G (p.Ala120Gly) rs779208773
NM_000152.4(GAA):c.368G>A (p.Gly123Glu) rs138034915
NM_000152.4(GAA):c.36C>T (p.Leu12=) rs200548806
NM_000152.4(GAA):c.393C>G (p.Pro131=) rs769276948
NM_000152.4(GAA):c.395G>C (p.Ser132Thr) rs772908626
NM_000152.4(GAA):c.412C>G (p.Leu138Val) rs761221259
NM_000152.4(GAA):c.425G>A (p.Ser142Asn) rs754195673
NM_000152.4(GAA):c.43G>A (p.Val15Ile)
NM_000152.4(GAA):c.452C>T (p.Thr151Ile)
NM_000152.4(GAA):c.49G>A (p.Ala17Thr) rs751425831
NM_000152.4(GAA):c.510C>T (p.Asp170=) rs564758226
NM_000152.4(GAA):c.532C>T (p.Arg178Cys) rs762439362
NM_000152.4(GAA):c.545C>G (p.Thr182Arg) rs200524747
NM_000152.4(GAA):c.546+3G>A rs371405931
NM_000152.4(GAA):c.546+8G>A rs200107080
NM_000152.4(GAA):c.546G>A (p.Thr182=) rs143523371
NM_000152.4(GAA):c.600C>T (p.Val200=) rs150895924
NM_000152.4(GAA):c.614C>T (p.Pro205Leu) rs775065551
NM_000152.4(GAA):c.618C>T (p.Ser206=) rs146292898
NM_000152.4(GAA):c.634G>A (p.Glu212Lys) rs768596085
NM_000152.4(GAA):c.649C>T (p.Pro217Ser)
NM_000152.4(GAA):c.658G>T (p.Val220Leu) rs530478036
NM_000152.4(GAA):c.663C>G (p.Ile221Met) rs142878958
NM_000152.4(GAA):c.663C>T (p.Ile221=) rs142878958
NM_000152.4(GAA):c.664G>A (p.Val222Met) rs374569672
NM_000152.4(GAA):c.676C>G (p.Leu226Val) rs113085339
NM_000152.4(GAA):c.682G>A (p.Gly228Ser) rs747150907
NM_000152.4(GAA):c.687C>T (p.Arg229=) rs149814041
NM_000152.4(GAA):c.692+5G>T rs763027848
NM_000152.4(GAA):c.693-4G>A rs200088236
NM_000152.4(GAA):c.693-4G>T rs200088236
NM_000152.4(GAA):c.693-5delC rs1555599563
NM_000152.4(GAA):c.69C>T (p.Thr23=) rs746351336
NM_000152.4(GAA):c.70G>A (p.Ala24Thr) rs139716763
NM_000152.4(GAA):c.711G>A (p.Ala237=) rs368328598
NM_000152.4(GAA):c.715C>T (p.Leu239=) rs778882374
NM_000152.4(GAA):c.725C>T (p.Ala242Val) rs745861849
NM_000152.4(GAA):c.726G>A (p.Ala242=) rs148578399
NM_000152.4(GAA):c.736delC (p.Leu246Phefs) rs886043920
NM_000152.4(GAA):c.737T>G (p.Leu246Arg) rs1555599608
NM_000152.4(GAA):c.745T>C (p.Ser249Pro)
NM_000152.4(GAA):c.747C>T (p.Ser249=) rs1555599614
NM_000152.4(GAA):c.758C>G (p.Pro253Arg) rs1169157671
NM_000152.4(GAA):c.762G>A (p.Ser254=) rs533960093
NM_000152.4(GAA):c.77T>G (p.Leu26Arg)
NM_000152.4(GAA):c.781G>A (p.Ala261Thr) rs543360994
NM_000152.4(GAA):c.783C>T (p.Ala261=) rs757356178
NM_000152.4(GAA):c.787C>T (p.His263Tyr) rs1555599660
NM_000152.4(GAA):c.794G>A (p.Ser265Asn) rs772002851
NM_000152.4(GAA):c.797C>T (p.Pro266Leu)
NM_000152.4(GAA):c.851C>G (p.Ala284Gly) rs147569830
NM_000152.4(GAA):c.852G>A (p.Ala284=) rs142626724
NM_000152.4(GAA):c.858+10C>T rs758283022
NM_000152.4(GAA):c.858+7_858+8insAGCAGGC rs3071247
NM_000152.4(GAA):c.858+7_858+8insAGCGGGC rs3071247
NM_000152.4(GAA):c.858+7_858+8insAGCGGGCGGCGGGC rs3071247
NM_000152.4(GAA):c.858+8G>A rs5822325
NM_000152.4(GAA):c.858G>A (p.Thr286=)
NM_000152.4(GAA):c.861C>T (p.Pro287=) rs778580823
NM_000152.4(GAA):c.862G>A (p.Gly288Ser) rs200125735
NM_000152.4(GAA):c.863G>A (p.Gly288Asp) rs769074720
NM_000152.4(GAA):c.866C>T (p.Ala289Val) rs145903608
NM_000152.4(GAA):c.868A>G (p.Asn290Asp) rs552929702
NM_000152.4(GAA):c.877G>A (p.Gly293Arg) rs121907945
NM_000152.4(GAA):c.909C>T (p.Asp303=) rs752724918
NM_000152.4(GAA):c.915G>A (p.Gly305=) rs150343359
NM_000152.4(GAA):c.917C>T (p.Ser306Leu) rs138097673
NM_000152.4(GAA):c.922C>T (p.His308Tyr) rs112025212
NM_000152.4(GAA):c.93_95del (p.Leu32del) rs1278892703
NM_000152.4(GAA):c.969G>T (p.Gln323His) rs1266693289
NM_000152.4(GAA):c.982C>T (p.Leu328Phe) rs1555599956

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