ClinVar Miner

List of variants in gene GAA reported by Ambry Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 242
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000152.5(GAA):c.2338G>A (p.Val780Ile) rs1126690 0.71839
NM_000152.5(GAA):c.596A>G (p.His199Arg) rs1042393 0.65667
NM_000152.5(GAA):c.547-4C>G rs3816256 0.65665
NM_000152.5(GAA):c.668G>A (p.Arg223His) rs1042395 0.65662
NM_000152.5(GAA):c.1203G>A (p.Gln401=) rs1800304 0.65453
NM_000152.5(GAA):c.2553G>A (p.Gly851=) rs1042397 0.57872
NM_000152.5(GAA):c.2133A>G (p.Thr711=) rs1800310 0.23591
NM_000152.5(GAA):c.1581G>A (p.Arg527=) rs1042396 0.20175
NM_000152.5(GAA):c.642C>T (p.Ser214=) rs1800301 0.16610
NM_000152.5(GAA):c.921A>T (p.Ala307=) rs1800303 0.11304
NM_000152.5(GAA):c.1374C>T (p.Tyr458=) rs1800305 0.10079
NM_000152.5(GAA):c.2446G>A (p.Val816Ile) rs1800314 0.05752
NM_000152.5(GAA):c.2780C>T (p.Thr927Ile) rs1800315 0.04402
NM_000152.3(GAA):c.2065G>A (p.Glu689Lys) rs1800309 0.04051
NM_000152.5(GAA):c.271G>A (p.Asp91Asn) rs1800299 0.02215
NM_000152.5(GAA):c.2400C>T (p.Ser800=) rs115705591 0.00724
NM_000152.5(GAA):c.1726G>A (p.Gly576Ser) rs1800307 0.00653
NM_000152.5(GAA):c.852G>A (p.Ala284=) rs142626724 0.00638
NM_000152.5(GAA):c.2580C>T (p.Asp860=) rs61736894 0.00459
NM_000152.5(GAA):c.-32-13T>G rs386834236 0.00384
NM_000152.5(GAA):c.447G>A (p.Thr149=) rs2289536 0.00362
NM_000152.5(GAA):c.2571G>T (p.Leu857=) rs17853996 0.00319
NM_000152.5(GAA):c.1830C>T (p.Ala610=) rs61736896 0.00118
NM_000152.5(GAA):c.915G>A (p.Gly305=) rs150343359 0.00113
NM_000152.5(GAA):c.2415G>A (p.Val805=) rs150536507 0.00112
NM_000152.5(GAA):c.726G>A (p.Ala242=) rs148578399 0.00101
NM_000152.5(GAA):c.2417C>T (p.Thr806Met) rs139850074 0.00056
NM_000152.5(GAA):c.2109C>T (p.Tyr703=) rs150728610 0.00038
NM_000152.5(GAA):c.600C>T (p.Val200=) rs150895924 0.00038
NM_000152.5(GAA):c.2652G>A (p.Thr884=) rs143642048 0.00036
NM_000152.5(GAA):c.2478G>A (p.Leu826=) rs201183207 0.00031
NM_000152.5(GAA):c.1286A>G (p.Gln429Arg) rs200294882 0.00026
NM_000152.5(GAA):c.2736G>A (p.Ala912=) rs142472738 0.00026
NM_000152.5(GAA):c.922C>T (p.His308Tyr) rs112025212 0.00024
NM_000152.5(GAA):c.1599C>T (p.Cys533=) rs142766716 0.00022
NM_000152.5(GAA):c.2152G>A (p.Val718Ile) rs141017311 0.00021
NM_000152.5(GAA):c.2323C>A (p.Leu775Met) rs147290429 0.00021
NM_000152.5(GAA):c.2253C>T (p.Leu751=) rs140441758 0.00020
NM_000152.5(GAA):c.2751C>T (p.Leu917=) rs146507838 0.00020
NM_000152.5(GAA):c.1285C>G (p.Gln429Glu) rs528369909 0.00018
NM_000152.5(GAA):c.1848C>T (p.Asp616=) rs377175810 0.00017
NM_000152.5(GAA):c.2274C>T (p.Ala758=) rs150431943 0.00016
NM_000152.5(GAA):c.1332T>C (p.Pro444=) rs200007324 0.00015
NM_000152.5(GAA):c.1593C>T (p.Asp531=) rs138732016 0.00014
NM_000152.5(GAA):c.2052G>A (p.Pro684=) rs546463058 0.00014
NM_000152.5(GAA):c.2381G>A (p.Arg794His) rs200505871 0.00013
NM_000152.5(GAA):c.1860C>T (p.Ser620=) rs370369972 0.00012
NM_000152.5(GAA):c.663C>T (p.Ile221=) rs142878958 0.00012
NM_000152.5(GAA):c.1872C>T (p.Leu624=) rs373103422 0.00011
NM_000152.5(GAA):c.1758G>A (p.Ala586=) rs79795428 0.00010
NM_000152.5(GAA):c.1920T>G (p.Pro640=) rs144090460 0.00010
NM_000152.5(GAA):c.2319C>T (p.Tyr773=) rs377402848 0.00010
NM_000152.5(GAA):c.1302C>T (p.Gly434=) rs752231775 0.00009
NM_000152.5(GAA):c.1482A>G (p.Thr494=) rs202064115 0.00009
NM_000152.5(GAA):c.1818C>T (p.His606=) rs374368644 0.00009
NM_000152.5(GAA):c.711G>A (p.Ala237=) rs368328598 0.00009
NM_000152.5(GAA):c.1552-3C>G rs375470378 0.00008
NM_000152.5(GAA):c.2157G>A (p.Ala719=) rs201523530 0.00007
NM_000152.5(GAA):c.658G>T (p.Val220Leu) rs530478036 0.00007
NM_000152.5(GAA):c.1143C>T (p.Thr381=) rs111832449 0.00006
NM_000152.5(GAA):c.1356C>T (p.Ala452=) rs757893858 0.00006
NM_000152.5(GAA):c.318C>T (p.Arg106=) rs762542246 0.00006
NM_000152.5(GAA):c.55G>A (p.Val19Met) rs200343198 0.00006
NM_000152.5(GAA):c.1425G>A (p.Pro475=) rs753140491 0.00005
NM_000152.5(GAA):c.1488G>A (p.Leu496=) rs750777002 0.00005
NM_000152.5(GAA):c.1932C>T (p.Ala644=) rs746194098 0.00005
NM_000152.5(GAA):c.2408A>G (p.Gln803Arg) rs142487534 0.00005
NM_000152.5(GAA):c.510C>T (p.Asp170=) rs564758226 0.00005
NM_000152.5(GAA):c.1198G>A (p.Val400Ile) rs758334520 0.00004
NM_000152.5(GAA):c.1245G>A (p.Thr415=) rs760920034 0.00004
NM_000152.5(GAA):c.1629C>T (p.Tyr543=) rs372193105 0.00004
NM_000152.5(GAA):c.246C>T (p.Cys82=) rs749584846 0.00004
NM_000152.5(GAA):c.618C>T (p.Ser206=) rs146292898 0.00004
NM_000152.5(GAA):c.762G>A (p.Ser254=) rs533960093 0.00004
NM_000152.5(GAA):c.861C>T (p.Pro287=) rs778580823 0.00004
NM_000152.5(GAA):c.912C>T (p.Gly304=) rs368741815 0.00004
NM_000152.5(GAA):c.1803G>A (p.Ser601=) rs368993048 0.00003
NM_000152.5(GAA):c.1849G>A (p.Val617Met) rs767977395 0.00003
NM_000152.5(GAA):c.2365C>G (p.Pro789Ala) rs201485261 0.00003
NM_000152.5(GAA):c.2455C>T (p.Arg819Trp) rs61736895 0.00003
NM_000152.5(GAA):c.2656G>A (p.Val886Met) rs372802420 0.00003
NM_000152.5(GAA):c.2739C>G (p.Pro913=) rs370765733 0.00003
NM_000152.5(GAA):c.2757C>T (p.Asn919=) rs766916186 0.00003
NM_000152.5(GAA):c.351G>A (p.Leu117=) rs574947353 0.00003
NM_000152.5(GAA):c.654C>T (p.Phe218=) rs762830719 0.00003
NM_000152.5(GAA):c.855C>A (p.Pro285=) rs754080080 0.00003
NM_000152.5(GAA):c.867G>A (p.Ala289=) rs534515557 0.00003
NM_000152.5(GAA):c.1083G>A (p.Pro361=) rs781379047 0.00002
NM_000152.5(GAA):c.1275G>A (p.Pro425=) rs762826072 0.00002
NM_000152.5(GAA):c.1815C>T (p.Gly605=) rs756507404 0.00002
NM_000152.5(GAA):c.1831G>A (p.Gly611Ser) rs1278340100 0.00002
NM_000152.5(GAA):c.1881C>T (p.Ser627=) rs779328815 0.00002
NM_000152.5(GAA):c.2164A>T (p.Thr722Ser) rs774307734 0.00002
NM_000152.5(GAA):c.2444A>G (p.Asn815Ser) rs1365945556 0.00002
NM_000152.5(GAA):c.2668G>C (p.Val890Leu) rs377286472 0.00002
NM_000152.5(GAA):c.705G>A (p.Thr235=) rs2304846 0.00002
NM_000152.5(GAA):c.972G>A (p.Pro324=) rs763445243 0.00002
NM_000152.5(GAA):c.1044G>A (p.Lys348=) rs1249705476 0.00001
NM_000152.5(GAA):c.1047C>T (p.Ser349=) rs138262940 0.00001
NM_000152.5(GAA):c.1068C>T (p.Asp356=) rs751215137 0.00001
NM_000152.5(GAA):c.1095A>G (p.Pro365=) rs1555600060 0.00001
NM_000152.5(GAA):c.1107G>T (p.Leu369=) rs767807936 0.00001
NM_000152.5(GAA):c.1197C>T (p.Asp399=) rs1555600168 0.00001
NM_000152.5(GAA):c.1200C>G (p.Val400=) rs1431452557 0.00001
NM_000152.5(GAA):c.1347G>A (p.Ser449=) rs756938942 0.00001
NM_000152.5(GAA):c.1410C>T (p.Asn470=) rs886043068 0.00001
NM_000152.5(GAA):c.1662G>A (p.Ala554=) rs775954786 0.00001
NM_000152.5(GAA):c.1842G>A (p.Thr614=) rs373955374 0.00001
NM_000152.5(GAA):c.1857C>T (p.Ser619=) rs914396317 0.00001
NM_000152.5(GAA):c.1926C>T (p.Val642=) rs1346499760 0.00001
NM_000152.5(GAA):c.1977G>A (p.Val659=) rs751873094 0.00001
NM_000152.5(GAA):c.2005C>A (p.Pro669Thr) rs752507985 0.00001
NM_000152.5(GAA):c.2070G>A (p.Pro690=) rs757802524 0.00001
NM_000152.5(GAA):c.2118C>T (p.Leu706=) rs1479318289 0.00001
NM_000152.5(GAA):c.2137T>C (p.Phe713Leu) rs755618776 0.00001
NM_000152.5(GAA):c.2166C>T (p.Thr722=) rs759452172 0.00001
NM_000152.5(GAA):c.2283C>T (p.Ala761=) rs774769974 0.00001
NM_000152.5(GAA):c.231A>G (p.Ala77=) rs748580998 0.00001
NM_000152.5(GAA):c.234G>T (p.Val78=) rs2039033854 0.00001
NM_000152.5(GAA):c.2424G>A (p.Pro808=) rs763272351 0.00001
NM_000152.5(GAA):c.2463G>T (p.Gly821=) rs923989221 0.00001
NM_000152.5(GAA):c.2521A>G (p.Met841Val) rs1184116513 0.00001
NM_000152.5(GAA):c.2598A>C (p.Glu866Asp) rs1445358978 0.00001
NM_000152.5(GAA):c.2655C>T (p.Ile885=) rs774840779 0.00001
NM_000152.5(GAA):c.270C>T (p.Phe90=) rs768078324 0.00001
NM_000152.5(GAA):c.276C>T (p.Cys92=) rs1232001857 0.00001
NM_000152.5(GAA):c.2819C>T (p.Ser940Leu) rs1343332597 0.00001
NM_000152.5(GAA):c.2820G>A (p.Ser940=) rs992579033 0.00001
NM_000152.5(GAA):c.347G>T (p.Gly116Val) rs754285414 0.00001
NM_000152.5(GAA):c.36C>T (p.Leu12=) rs200548806 0.00001
NM_000152.5(GAA):c.372G>A (p.Gln124=) rs899924363 0.00001
NM_000152.5(GAA):c.384C>T (p.Phe128=) rs1021707839 0.00001
NM_000152.5(GAA):c.450C>G (p.Ala150=) rs752367410 0.00001
NM_000152.5(GAA):c.594G>A (p.Pro198=) rs1426823689 0.00001
NM_000152.5(GAA):c.603C>T (p.His201=) rs1442775924 0.00001
NM_000152.5(GAA):c.615G>A (p.Pro205=) rs141427808 0.00001
NM_000152.5(GAA):c.630C>T (p.Ser210=) rs775568949 0.00001
NM_000152.5(GAA):c.681C>T (p.Asp227=) rs780515378 0.00001
NM_000152.5(GAA):c.702G>A (p.Thr234=) rs755337511 0.00001
NM_000152.5(GAA):c.70G>A (p.Ala24Thr) rs139716763 0.00001
NM_000152.5(GAA):c.715C>T (p.Leu239=) rs778882374 0.00001
NM_000152.5(GAA):c.745T>C (p.Ser249Pro) rs1386718298 0.00001
NM_000152.5(GAA):c.780C>T (p.Leu260=) rs372614893 0.00001
NM_000152.5(GAA):c.834G>A (p.Leu278=) rs776314424 0.00001
NM_000152.5(GAA):c.876C>T (p.Tyr292=) rs763216519 0.00001
NM_000152.5(GAA):c.900G>A (p.Ala300=) rs759425304 0.00001
NM_000152.5(GAA):c.909C>T (p.Asp303=) rs752724918 0.00001
NM_000152.5(GAA):c.910G>A (p.Gly304Ser) rs140301384 0.00001
NM_000152.5(GAA):c.918G>A (p.Ser306=) rs373276219 0.00001
NM_000152.5(GAA):c.1011G>A (p.Leu337=)
NM_000152.5(GAA):c.1045A>G (p.Ser349Gly)
NM_000152.5(GAA):c.1069G>T (p.Val357Phe) rs754449703
NM_000152.5(GAA):c.1164G>A (p.Val388=) rs2143855798
NM_000152.5(GAA):c.1191C>G (p.Pro397=)
NM_000152.5(GAA):c.1191C>T (p.Pro397=)
NM_000152.5(GAA):c.1192C>A (p.Leu398Met) rs369707231
NM_000152.5(GAA):c.1209C>T (p.Asn403=) rs751333479
NM_000152.5(GAA):c.1251C>T (p.Asn417=)
NM_000152.5(GAA):c.1278C>T (p.Ala426=)
NM_000152.5(GAA):c.1296C>A (p.His432Gln)
NM_000152.5(GAA):c.1377C>T (p.Asp459=) rs778121058
NM_000152.5(GAA):c.1401C>T (p.Phe467=)
NM_000152.5(GAA):c.1416C>G (p.Thr472=) rs368492669
NM_000152.5(GAA):c.1434G>A (p.Gly478=) rs886043285
NM_000152.5(GAA):c.1446C>T (p.Pro482=) rs529513250
NM_000152.5(GAA):c.144C>A (p.Val48=)
NM_000152.5(GAA):c.144C>T (p.Val48=) rs1055575232
NM_000152.5(GAA):c.1486C>T (p.Leu496=) rs1598581572
NM_000152.5(GAA):c.1536C>A (p.Phe512Leu) rs143491365
NM_000152.5(GAA):c.1637-4_1637-3delinsG
NM_000152.5(GAA):c.1646G>C (p.Gly549Ala) rs2039246325
NM_000152.5(GAA):c.1657C>A (p.Gln553Lys)
NM_000152.5(GAA):c.1665C>G (p.Ala555=)
NM_000152.5(GAA):c.1692del (p.Leu565fs) rs1555601234
NM_000152.5(GAA):c.1704C>T (p.His568=) rs776882059
NM_000152.5(GAA):c.1720C>T (p.Leu574Phe)
NM_000152.5(GAA):c.1722C>T (p.Leu574=) rs561357893
NM_000152.5(GAA):c.1743C>T (p.Ile581=) rs527970795
NM_000152.5(GAA):c.1791G>C (p.Val597=) rs2039262436
NM_000152.5(GAA):c.1797C>T (p.Ser599=) rs761377657
NM_000152.5(GAA):c.1823G>T (p.Arg608Leu) rs377126280
NM_000152.5(GAA):c.1941C>T (p.Cys647=) rs776948121
NM_000152.5(GAA):c.1998C>T (p.Ala666=)
NM_000152.5(GAA):c.2022C>T (p.His674=)
NM_000152.5(GAA):c.2064C>T (p.Ser688=) rs140996643
NM_000152.5(GAA):c.2122C>G (p.His708Asp) rs149916476
NM_000152.5(GAA):c.2124C>T (p.His708=) rs751187069
NM_000152.5(GAA):c.2166C>G (p.Thr722=)
NM_000152.5(GAA):c.2178C>A (p.Pro726=) rs1226457670
NM_000152.5(GAA):c.2178C>T (p.Pro726=) rs1226457670
NM_000152.5(GAA):c.2196C>A (p.Pro732=) rs915890435
NM_000152.5(GAA):c.2205T>C (p.Ser735=) rs2143918429
NM_000152.5(GAA):c.2207G>A (p.Ser736Asn) rs553430197
NM_000152.5(GAA):c.2215A>T (p.Thr739Ser) rs578245757
NM_000152.5(GAA):c.2218G>A (p.Val740Met) rs752122499
NM_000152.5(GAA):c.2235G>A (p.Leu745=) rs1429277920
NM_000152.5(GAA):c.2272G>T (p.Ala758Ser)
NM_000152.5(GAA):c.2307G>C (p.Leu769Phe) rs372800172
NM_000152.5(GAA):c.2325G>A (p.Leu775=) rs2143920372
NM_000152.5(GAA):c.2336C>A (p.Pro779Gln)
NM_000152.5(GAA):c.2337A>G (p.Pro779=) rs1042838087
NM_000152.5(GAA):c.2362C>A (p.Pro788Thr) rs2039384789
NM_000152.5(GAA):c.2366C>G (p.Pro789Arg)
NM_000152.5(GAA):c.2367A>C (p.Pro789=)
NM_000152.5(GAA):c.2370T>A (p.Pro790=)
NM_000152.5(GAA):c.2391C>T (p.Ala797=) rs767494597
NM_000152.5(GAA):c.2415G>T (p.Val805=) rs150536507
NM_000152.5(GAA):c.2430C>G (p.Pro810=) rs554839058
NM_000152.5(GAA):c.2430C>T (p.Pro810=) rs554839058
NM_000152.5(GAA):c.2431C>G (p.Leu811Val)
NM_000152.5(GAA):c.2433G>A (p.Leu811=)
NM_000152.5(GAA):c.2444A>T (p.Asn815Ile)
NM_000152.5(GAA):c.2465A>G (p.Tyr822Cys)
NM_000152.5(GAA):c.2493C>T (p.Leu831=)
NM_000152.5(GAA):c.252C>T (p.Val84=) rs775079960
NM_000152.5(GAA):c.2553G>C (p.Gly851=) rs1042397
NM_000152.5(GAA):c.2559C>G (p.Ala853=) rs2143930088
NM_000152.5(GAA):c.255C>G (p.Pro85=) rs1448106804
NM_000152.5(GAA):c.2574C>G (p.Phe858Leu)
NM_000152.5(GAA):c.2591G>A (p.Ser864Asn)
NM_000152.5(GAA):c.2597A>C (p.Glu866Ala) rs951742543
NM_000152.5(GAA):c.2602C>G (p.Leu868Val)
NM_000152.5(GAA):c.2608C>A (p.Arg870=) rs780321415
NM_000152.5(GAA):c.2609G>C (p.Arg870Pro)
NM_000152.5(GAA):c.2616C>T (p.Ala872=)
NM_000152.5(GAA):c.2672G>C (p.Arg891Pro) rs199524847
NM_000152.5(GAA):c.2739C>T (p.Pro913=) rs370765733
NM_000152.5(GAA):c.2751C>G (p.Leu917=)
NM_000152.5(GAA):c.2778C>T (p.Phe926=)
NM_000152.5(GAA):c.2818T>G (p.Ser940Ala)
NM_000152.5(GAA):c.2823G>A (p.Leu941=)
NM_000152.5(GAA):c.2850C>T (p.Ser950=)
NM_000152.5(GAA):c.330C>T (p.Tyr110=)
NM_000152.5(GAA):c.502C>A (p.Arg168=)
NM_000152.5(GAA):c.511G>C (p.Val171Leu)
NM_000152.5(GAA):c.513G>C (p.Val171=)
NM_000152.5(GAA):c.573C>T (p.Tyr191=) rs376229714
NM_000152.5(GAA):c.688G>A (p.Val230Met) rs145866792
NM_000152.5(GAA):c.69C>A (p.Thr23=) rs746351336
NM_000152.5(GAA):c.81G>A (p.Leu27=)
NM_000152.5(GAA):c.837G>T (p.Trp279Cys)
NM_000152.5(GAA):c.854C>G (p.Pro285Arg) rs764622267

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