ClinVar Miner

List of variants in gene GAA studied for not specified

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 166
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HGVS dbSNP
NM_000152.3(GAA):c.2065G>A (p.Glu689Lys) rs1800309
NM_000152.5(GAA):c.*3G>A rs1800317
NM_000152.5(GAA):c.-104C>T rs960427191
NM_000152.5(GAA):c.-116C>T rs190152638
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.-32-4G>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.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.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.1123C>T (p.Arg375Cys) rs372486238
NM_000152.5(GAA):c.1146T>G (p.Ala382=) rs1259509761
NM_000152.5(GAA):c.1194+17G>T rs548850587
NM_000152.5(GAA):c.1195-15G>A rs373840229
NM_000152.5(GAA):c.1203G>A (p.Gln401=) rs1800304
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.1327-18A>G rs2278619
NM_000152.5(GAA):c.1332T>C (p.Pro444=) rs200007324
NM_000152.5(GAA):c.1343G>C (p.Ser448Thr) rs145712232
NM_000152.5(GAA):c.1352C>G (p.Pro451Arg) rs7215458
NM_000152.5(GAA):c.1356C>T (p.Ala452=) rs757893858
NM_000152.5(GAA):c.1374C>T (p.Tyr458=) rs1800305
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.1437+8G>A rs779194427
NM_000152.5(GAA):c.1438-19G>C rs2304844
NM_000152.5(GAA):c.1438-7_1438-5del rs764583466
NM_000152.5(GAA):c.1438-9G>A rs202211401
NM_000152.5(GAA):c.1446C>T (p.Pro482=) rs529513250
NM_000152.5(GAA):c.1482A>G (p.Thr494=) rs202064115
NM_000152.5(GAA):c.1504A>G (p.Met502Val) rs376067362
NM_000152.5(GAA):c.1536C>T (p.Phe512=) rs143491365
NM_000152.5(GAA):c.1551+12C>A rs937342824
NM_000152.5(GAA):c.1551+42G>A rs115427918
NM_000152.5(GAA):c.1551+49C>A rs2304843
NM_000152.5(GAA):c.1552-13G>A rs111261964
NM_000152.5(GAA):c.1552-14C>T rs199715011
NM_000152.5(GAA):c.1581G>A (p.Arg527=) rs1042396
NM_000152.5(GAA):c.1593C>T (p.Asp531=) rs138732016
NM_000152.5(GAA):c.1599C>T (p.Cys533=) rs142766716
NM_000152.5(GAA):c.1629C>T (p.Tyr543=) rs372193105
NM_000152.5(GAA):c.1636+43G>T rs2304842
NM_000152.5(GAA):c.1636+8C>T rs572293131
NM_000152.5(GAA):c.1637-12C>T rs374923144
NM_000152.5(GAA):c.1726G>A (p.Gly576Ser) rs1800307
NM_000152.5(GAA):c.1754+12G>A rs2304840
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.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.1888+10_1888+11insC rs748036956
NM_000152.5(GAA):c.1888+21G>A rs2304837
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.1952G>T (p.Gly651Val) rs939350425
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.2040+20A>G rs2304836
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.2064C>T (p.Ser688=) rs140996643
NM_000152.5(GAA):c.2100C>T (p.Thr700=) rs199571088
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.2133A>G (p.Thr711=) rs1800310
NM_000152.5(GAA):c.2152G>A (p.Val718Ile) rs141017311
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.2190-4G>A rs759974338
NM_000152.5(GAA):c.2238G>C (p.Trp746Cys) rs1800312
NM_000152.5(GAA):c.2331+20G>A rs2304832
NM_000152.5(GAA):c.2331+24T>C rs2304831
NM_000152.5(GAA):c.2332-12A>T rs200965268
NM_000152.5(GAA):c.2338G>A (p.Val780Ile) rs1126690
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.2417C>T (p.Thr806Met) rs139850074
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.2446G>A (p.Val816Ile) rs1800314
NM_000152.5(GAA):c.2478G>A (p.Leu826=) rs201183207
NM_000152.5(GAA):c.2481+16G>A rs41292408
NM_000152.5(GAA):c.2526C>G (p.Ala842=) rs886038259
NM_000152.5(GAA):c.2553G>A (p.Gly851=) rs1042397
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.257C>G (p.Pro86Arg) rs2229222
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.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.271G>A (p.Asp91Asn) rs1800299
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.2820G>A (p.Ser940=) rs992579033
NM_000152.5(GAA):c.297C>G (p.Thr99=) rs771846178
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.546+18G>A rs190153982
NM_000152.5(GAA):c.547-39T>G rs12452721
NM_000152.5(GAA):c.547-4C>G rs3816256
NM_000152.5(GAA):c.573C>T (p.Tyr191=) rs376229714
NM_000152.5(GAA):c.596A>G (p.His199Arg) rs1042393
NM_000152.5(GAA):c.600C>T (p.Val200=) rs150895924
NM_000152.5(GAA):c.642C>T (p.Ser214=) rs1800301
NM_000152.5(GAA):c.658G>T (p.Val220Leu) rs530478036
NM_000152.5(GAA):c.664G>A (p.Val222Met) rs374569672
NM_000152.5(GAA):c.668G>A (p.Arg223His) rs1042395
NM_000152.5(GAA):c.676C>G (p.Leu226Val) rs113085339
NM_000152.5(GAA):c.688G>A (p.Val230Met) rs145866792
NM_000152.5(GAA):c.692+17G>C rs199559553
NM_000152.5(GAA):c.692+9T>C rs367661167
NM_000152.5(GAA):c.693-49C>T rs78855075
NM_000152.5(GAA):c.693-4G>T rs200088236
NM_000152.5(GAA):c.725C>T (p.Ala242Val) rs745861849
NM_000152.5(GAA):c.726G>A (p.Ala242=) rs148578399
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+30T>C rs2304845
NM_000152.5(GAA):c.858+6GCGGCGG[3] rs1555599723
NM_000152.5(GAA):c.858+7_858+8insAGCAGGC rs3071247
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.859-18G>A rs377222482
NM_000152.5(GAA):c.867G>A (p.Ala289=) rs534515557
NM_000152.5(GAA):c.876C>T (p.Tyr292=) rs763216519
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.921A>T (p.Ala307=) rs1800303
NM_000152.5(GAA):c.955+12G>A rs2252455
NM_000152.5(GAA):c.955+14C>A rs756921041
NM_000152.5(GAA):c.972G>A (p.Pro324=) rs763445243

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