ClinVar Miner

List of variants in gene GAA reported by GeneDx

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Gene type:
ClinVar version:
Total variants: 185
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HGVS dbSNP
NC_000017.11:g.80109706_80109711del
NM_000152.5(GAA):c.-103G>A
NM_000152.5(GAA):c.-104C>T rs960427191
NM_000152.5(GAA):c.-116C>T rs190152638
NM_000152.5(GAA):c.-18T>A
NM_000152.5(GAA):c.-284G>A rs1016741188
NM_000152.5(GAA):c.-2C>T rs560511228
NM_000152.5(GAA):c.-312C>T rs574326920
NM_000152.5(GAA):c.-317C>T rs1033973716
NM_000152.5(GAA):c.-32-13T>G rs386834236
NM_000152.5(GAA):c.-32-181C>T
NM_000152.5(GAA):c.-32-4G>A rs760925777
NM_000152.5(GAA):c.-32-5C>T rs775682001
NM_000152.5(GAA):c.-33+17C>T rs1157266131
NM_000152.5(GAA):c.-37A>G rs907981020
NM_000152.5(GAA):c.-9T>C
NM_000152.5(GAA):c.1019A>G (p.Tyr340Cys) rs144857480
NM_000152.5(GAA):c.1062C>A (p.Tyr354Ter) rs1064796703
NM_000152.5(GAA):c.1075+12T>G rs370842677
NM_000152.5(GAA):c.1075+13C>T rs41292402
NM_000152.5(GAA):c.1075+20C>T rs370379513
NM_000152.5(GAA):c.1075+9T>C rs751918816
NM_000152.5(GAA):c.1075G>T (p.Gly359Ter) rs1064794288
NM_000152.5(GAA):c.1083G>A (p.Pro361=) rs781379047
NM_000152.5(GAA):c.108G>C (p.Leu36=) rs1369758261
NM_000152.5(GAA):c.1092G>A (p.Pro364=) rs777730774
NM_000152.5(GAA):c.1095A>C (p.Pro365=) rs1555600060
NM_000152.5(GAA):c.1146T>G (p.Ala382=) rs1259509761
NM_000152.5(GAA):c.118C>T (p.Arg40Ter) rs767409395
NM_000152.5(GAA):c.1194+17G>T rs548850587
NM_000152.5(GAA):c.1195-15G>A rs373840229
NM_000152.5(GAA):c.1209C>T (p.Asn403=) rs751333479
NM_000152.5(GAA):c.1285C>G (p.Gln429Glu) rs528369909
NM_000152.5(GAA):c.1286A>G (p.Gln429Arg) rs200294882
NM_000152.5(GAA):c.1327-179G>A
NM_000152.5(GAA):c.1327-269A>G
NM_000152.5(GAA):c.1343G>C (p.Ser448Thr) rs145712232
NM_000152.5(GAA):c.1356C>T (p.Ala452=) rs757893858
NM_000152.5(GAA):c.1375G>A (p.Asp459Asn) rs535644999
NM_000152.5(GAA):c.1378G>A (p.Glu460Lys) rs771213237
NM_000152.5(GAA):c.1392G>C (p.Arg464Ser) rs372786811
NM_000152.5(GAA):c.1416C>T (p.Thr472=) rs368492669
NM_000152.5(GAA):c.1437+19G>A rs746904197
NM_000152.5(GAA):c.1437+20G>A rs768737799
NM_000152.5(GAA):c.1438-220A>G
NM_000152.5(GAA):c.1438-7_1438-5del rs764583466
NM_000152.5(GAA):c.1438-9G>A rs202211401
NM_000152.5(GAA):c.1440A>G (p.Val480=) rs1555600737
NM_000152.5(GAA):c.1446C>T (p.Pro482=) rs529513250
NM_000152.5(GAA):c.1478C>T (p.Pro493Leu) rs148842275
NM_000152.5(GAA):c.1482A>G (p.Thr494=) rs202064115
NM_000152.5(GAA):c.1501_1515del (p.Asp501_Glu505del) rs1064794524
NM_000152.5(GAA):c.1536C>A (p.Phe512Leu) rs143491365
NM_000152.5(GAA):c.1536C>T (p.Phe512=) rs143491365
NM_000152.5(GAA):c.1548G>A (p.Trp516Ter) rs140826989
NM_000152.5(GAA):c.1551+12C>A rs937342824
NM_000152.5(GAA):c.1552-13G>A rs111261964
NM_000152.5(GAA):c.1552-14C>T rs199715011
NM_000152.5(GAA):c.1552-3C>G rs375470378
NM_000152.5(GAA):c.1564C>A (p.Pro522Thr) rs892129065
NM_000152.5(GAA):c.1593C>T (p.Asp531=) rs138732016
NM_000152.5(GAA):c.1626C>G (p.Pro542=) rs947585663
NM_000152.5(GAA):c.1629C>T (p.Tyr543=) rs372193105
NM_000152.5(GAA):c.1630G>A (p.Val544Met) rs567695610
NM_000152.5(GAA):c.1636+210G>A
NM_000152.5(GAA):c.1636+8C>T rs572293131
NM_000152.5(GAA):c.1637-12C>T rs374923144
NM_000152.5(GAA):c.1655T>C (p.Leu552Pro) rs779556619
NM_000152.5(GAA):c.1726G>A (p.Gly576Ser) rs1800307
NM_000152.5(GAA):c.1754+17G>A rs769797291
NM_000152.5(GAA):c.1755-18T>C rs201399518
NM_000152.5(GAA):c.1755-7A>G rs781539108
NM_000152.5(GAA):c.1758G>A (p.Ala586=) rs79795428
NM_000152.5(GAA):c.1799G>A (p.Arg600His) rs377544304
NM_000152.5(GAA):c.1830C>T (p.Ala610=) rs61736896
NM_000152.5(GAA):c.1842G>A (p.Thr614=) rs373955374
NM_000152.5(GAA):c.1872C>T (p.Leu624=) rs373103422
NM_000152.5(GAA):c.1882G>T (p.Val628Leu) rs745911962
NM_000152.5(GAA):c.1888+10_1888+11insC rs748036956
NM_000152.5(GAA):c.1920T>G (p.Pro640=) rs144090460
NM_000152.5(GAA):c.1932C>T (p.Ala644=) rs746194098
NM_000152.5(GAA):c.1933G>A (p.Asp645Asn) rs368438393
NM_000152.5(GAA):c.1961C>A (p.Ser654Ter) rs1057518106
NM_000152.5(GAA):c.1979G>A (p.Arg660His) rs374143224
NM_000152.5(GAA):c.197G>A (p.Arg66Gln) rs200202628
NM_000152.5(GAA):c.2025C>T (p.Asn675=) rs143951130
NM_000152.5(GAA):c.2040+17G>A rs534129336
NM_000152.5(GAA):c.2040+19C>T rs559131285
NM_000152.5(GAA):c.2040+19_2040+20inv rs386799742
NM_000152.5(GAA):c.2041-17C>A rs746028622
NM_000152.5(GAA):c.2041-17C>T rs746028622
NM_000152.5(GAA):c.2052G>A (p.Pro684=) rs546463058
NM_000152.5(GAA):c.2061del (p.Phe687fs) rs1064796706
NM_000152.5(GAA):c.2064C>T (p.Ser688=) rs140996643
NM_000152.5(GAA):c.2069C>T (p.Pro690Leu) rs532624326
NM_000152.5(GAA):c.2100C>T (p.Thr700=) rs199571088
NM_000152.5(GAA):c.2101C>T (p.Leu701=)
NM_000152.5(GAA):c.2105G>A (p.Arg702His) rs398123172
NM_000152.5(GAA):c.2109C>T (p.Tyr703=) rs150728610
NM_000152.5(GAA):c.2132C>G (p.Thr711Arg) rs759292700
NM_000152.5(GAA):c.2152G>A (p.Val718Ile) rs141017311
NM_000152.5(GAA):c.2156C>A (p.Ala719Glu) rs146762316
NM_000152.5(GAA):c.2157G>A (p.Ala719=) rs201523530
NM_000152.5(GAA):c.2166C>T (p.Thr722=) rs759452172
NM_000152.5(GAA):c.2189+263G>A
NM_000152.5(GAA):c.2190-286G>A
NM_000152.5(GAA):c.2190-4G>A rs759974338
NM_000152.5(GAA):c.2237G>A (p.Trp746Ter) rs752921215
NM_000152.5(GAA):c.2238G>A (p.Trp746Ter) rs1800312
NM_000152.5(GAA):c.2238G>C (p.Trp746Cys) rs1800312
NM_000152.5(GAA):c.2242dup (p.Glu748fs) rs777275355
NM_000152.5(GAA):c.2269C>T (p.Gln757Ter) rs200483245
NM_000152.5(GAA):c.2297A>C (p.Tyr766Ser) rs144016984
NM_000152.5(GAA):c.2316G>T (p.Trp772Cys) rs1057524664
NM_000152.5(GAA):c.2332-12A>T rs200965268
NM_000152.5(GAA):c.2332-198A>T
NM_000152.5(GAA):c.2400C>T (p.Ser800=) rs115705591
NM_000152.5(GAA):c.2415G>A (p.Val805=) rs150536507
NM_000152.5(GAA):c.2430C>T (p.Pro810=) rs554839058
NM_000152.5(GAA):c.2445C>T (p.Asn815=) rs755846997
NM_000152.5(GAA):c.2478G>A (p.Leu826=) rs201183207
NM_000152.5(GAA):c.2481+16G>A rs41292408
NM_000152.5(GAA):c.2482-18G>A
NM_000152.5(GAA):c.2560C>T (p.Arg854Ter) rs121907943
NM_000152.5(GAA):c.2561G>A (p.Arg854Gln) rs149968110
NM_000152.5(GAA):c.2571G>T (p.Leu857=) rs17853996
NM_000152.5(GAA):c.2580C>T (p.Asp860=) rs61736894
NM_000152.5(GAA):c.258C>A (p.Pro86=) rs146615896
NM_000152.5(GAA):c.2608C>T (p.Arg870Ter) rs780321415
NM_000152.5(GAA):c.2647-6G>A rs201525743
NM_000152.5(GAA):c.2647-8C>T rs139201641
NM_000152.5(GAA):c.2652G>A (p.Thr884=) rs143642048
NM_000152.5(GAA):c.2668G>C (p.Val890Leu) rs377286472
NM_000152.5(GAA):c.2671C>T (p.Arg891Cys) rs377249041
NM_000152.5(GAA):c.2736G>A (p.Ala912=) rs142472738
NM_000152.5(GAA):c.2780C>T (p.Thr927Ile) rs1800315
NM_000152.5(GAA):c.2799+19G>A rs558187268
NM_000152.5(GAA):c.2800-11C>G rs374571499
NM_000152.5(GAA):c.2800-15CT[3] rs770227589
NM_000152.5(GAA):c.2800-227C>T
NM_000152.5(GAA):c.2820G>A (p.Ser940=) rs992579033
NM_000152.5(GAA):c.297C>G (p.Thr99=) rs771846178
NM_000152.5(GAA):c.307T>G (p.Cys103Gly) rs398123174
NM_000152.5(GAA):c.318C>T (p.Arg106=) rs762542246
NM_000152.5(GAA):c.32G>A (p.Arg11Gln) rs138812846
NM_000152.5(GAA):c.351G>A (p.Leu117=) rs574947353
NM_000152.5(GAA):c.368G>A (p.Gly123Glu) rs138034915
NM_000152.5(GAA):c.447G>A (p.Thr149=) rs2289536
NM_000152.5(GAA):c.525del (p.Glu176fs) rs386834235
NM_000152.5(GAA):c.546+18G>A rs190153982
NM_000152.5(GAA):c.546+293G>A
NM_000152.5(GAA):c.547-238T>C
NM_000152.5(GAA):c.547-243C>G
NM_000152.5(GAA):c.573C>T (p.Tyr191=) rs376229714
NM_000152.5(GAA):c.59C>G (p.Ser20Cys) rs752449306
NM_000152.5(GAA):c.607C>T (p.Arg203Trp) rs751286274
NM_000152.5(GAA):c.655G>A (p.Gly219Arg) rs370950728
NM_000152.5(GAA):c.664G>A (p.Val222Met) rs374569672
NM_000152.5(GAA):c.676C>G (p.Leu226Val) rs113085339
NM_000152.5(GAA):c.692+17G>C rs199559553
NM_000152.5(GAA):c.692+9T>C rs367661167
NM_000152.5(GAA):c.693-216T>C
NM_000152.5(GAA):c.693-49C>T rs78855075
NM_000152.5(GAA):c.693-4G>T rs200088236
NM_000152.5(GAA):c.726G>A (p.Ala242=) rs148578399
NM_000152.5(GAA):c.727G>A (p.Asp243Asn) rs1555599600
NM_000152.5(GAA):c.752C>T (p.Ser251Leu) rs200856561
NM_000152.5(GAA):c.761C>T (p.Ser254Leu) rs577915581
NM_000152.5(GAA):c.762G>A (p.Ser254=) rs533960093
NM_000152.5(GAA):c.780C>T (p.Leu260=) rs372614893
NM_000152.5(GAA):c.834G>A (p.Leu278=) rs776314424
NM_000152.5(GAA):c.852G>A (p.Ala284=) rs142626724
NM_000152.5(GAA):c.858+14C>T rs746986703
NM_000152.5(GAA):c.858+15G>A rs754760986
NM_000152.5(GAA):c.858+17_858+23del rs1555599723
NM_000152.5(GAA):c.858+6GCGGCGG[3] rs1555599723
NM_000152.5(GAA):c.858+7_858+8insAGCGGGC rs3071247
NM_000152.5(GAA):c.858+8G>A rs5822325
NM_000152.5(GAA):c.858+8_858+10delinsAGCGGGCGGT rs1555599729
NM_000152.5(GAA):c.867G>A (p.Ala289=) rs534515557
NM_000152.5(GAA):c.915G>A (p.Gly305=) rs150343359
NM_000152.5(GAA):c.917C>T (p.Ser306Leu) rs138097673
NM_000152.5(GAA):c.955+14C>A rs756921041
NM_000152.5(GAA):c.971C>T (p.Pro324Leu) rs750030887
NM_000152.5(GAA):c.972G>A (p.Pro324=) rs763445243

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