ClinVar Miner

List of variants in gene GAA reported as likely benign by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 149
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HGVS dbSNP gnomAD frequency
NM_000152.5(GAA):c.1755-186A>G rs62075593 0.02562
NM_000152.5(GAA):c.2331+151C>T rs111537160 0.01712
NM_000152.5(GAA):c.546+176C>T rs117666398 0.01368
NM_000152.5(GAA):c.2189+221A>C rs79163810 0.00582
NM_000152.5(GAA):c.-32-181C>T rs144604999 0.00537
NM_000152.5(GAA):c.2190-286G>A rs115541603 0.00486
NM_000152.5(GAA):c.546+18G>A rs190153982 0.00474
NM_000152.5(GAA):c.859-21G>A rs185883087 0.00465
NM_000152.5(GAA):c.2580C>T (p.Asp860=) rs61736894 0.00459
NM_000152.5(GAA):c.-32-84G>A rs368377256 0.00427
NM_000152.5(GAA):c.955+167C>T rs77717164 0.00411
NM_000152.5(GAA):c.1438-32G>A rs199897967 0.00320
NM_000152.5(GAA):c.2190-53C>G rs190988996 0.00317
NM_000152.5(GAA):c.2332-170C>G rs149337310 0.00304
NM_000152.5(GAA):c.956-31T>C rs201713593 0.00294
NM_000152.5(GAA):c.917C>T (p.Ser306Leu) rs138097673 0.00292
NM_000152.5(GAA):c.1552-13G>A rs111261964 0.00276
NM_000152.5(GAA):c.2481+16G>A rs41292408 0.00252
NM_000152.5(GAA):c.2647-8C>T rs139201641 0.00216
NM_000152.5(GAA):c.2332-12A>T rs200965268 0.00178
NM_000152.5(GAA):c.258C>A (p.Pro86=) rs146615896 0.00170
NM_000152.5(GAA):c.2331+156C>G rs74796058 0.00164
NM_000152.5(GAA):c.-116C>T rs190152638 0.00153
NM_000152.5(GAA):c.692+17G>C rs199559553 0.00147
NM_000152.5(GAA):c.1352C>G (p.Pro451Arg) rs7215458 0.00140
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.1755-18T>C rs201399518 0.00082
NM_000152.5(GAA):c.2040+19C>T rs559131285 0.00058
NM_000152.5(GAA):c.1343G>C (p.Ser448Thr) rs145712232 0.00057
NM_000152.5(GAA):c.1438-9G>A rs202211401 0.00056
NM_000152.5(GAA):c.858+8G>A rs5822325 0.00055
NM_000152.5(GAA):c.2109C>T (p.Tyr703=) rs150728610 0.00038
NM_000152.5(GAA):c.257C>G (p.Pro86Arg) rs2229222 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.2331+84C>G rs185905012 0.00034
NM_000152.5(GAA):c.2478G>A (p.Leu826=) rs201183207 0.00031
NM_000152.5(GAA):c.2332-10C>G rs373606162 0.00026
NM_000152.5(GAA):c.2736G>A (p.Ala912=) rs142472738 0.00026
NM_000152.5(GAA):c.32G>A (p.Arg11Gln) rs138812846 0.00026
NM_000152.5(GAA):c.1552-14C>T rs199715011 0.00024
NM_000152.5(GAA):c.2040+17G>A rs534129336 0.00023
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.1888+10_1888+11insC rs748036956 0.00020
NM_000152.5(GAA):c.693-4G>T rs200088236 0.00019
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.2799+19G>A rs558187268 0.00016
NM_000152.5(GAA):c.1332T>C (p.Pro444=) rs200007324 0.00015
NM_000152.5(GAA):c.368G>A (p.Gly123Glu) rs138034915 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.1755-7A>G rs781539108 0.00013
NM_000152.5(GAA):c.1860C>T (p.Ser620=) rs370369972 0.00012
NM_000152.5(GAA):c.1872C>T (p.Leu624=) rs373103422 0.00011
NM_000152.5(GAA):c.-18T>A rs376939861 0.00010
NM_000152.5(GAA):c.1637-12C>T rs374923144 0.00010
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.2482-18G>A rs757911622 0.00010
NM_000152.5(GAA):c.1482A>G (p.Thr494=) rs202064115 0.00009
NM_000152.5(GAA):c.664G>A (p.Val222Met) rs374569672 0.00009
NM_000152.5(GAA):c.1636+8C>T rs572293131 0.00007
NM_000152.5(GAA):c.2157G>A (p.Ala719=) rs201523530 0.00007
NM_000152.5(GAA):c.1195-15G>A rs373840229 0.00006
NM_000152.5(GAA):c.1356C>T (p.Ala452=) rs757893858 0.00006
NM_000152.5(GAA):c.1725C>T (p.Tyr575=) rs112517802 0.00006
NM_000152.5(GAA):c.1754+17G>A rs769797291 0.00006
NM_000152.5(GAA):c.197G>A (p.Arg66Gln) rs200202628 0.00006
NM_000152.5(GAA):c.2800-11C>G rs374571499 0.00006
NM_000152.5(GAA):c.318C>T (p.Arg106=) rs762542246 0.00006
NM_000152.5(GAA):c.858+15G>A rs754760986 0.00006
NM_000152.5(GAA):c.1075+20C>T rs370379513 0.00005
NM_000152.5(GAA):c.1075+9T>C rs751918816 0.00005
NM_000152.5(GAA):c.1437+19G>A rs746904197 0.00005
NM_000152.5(GAA):c.1932C>T (p.Ala644=) rs746194098 0.00005
NM_000152.5(GAA):c.1416C>T (p.Thr472=) rs368492669 0.00004
NM_000152.5(GAA):c.1437+22C>T rs544469136 0.00004
NM_000152.5(GAA):c.1629C>T (p.Tyr543=) rs372193105 0.00004
NM_000152.5(GAA):c.762G>A (p.Ser254=) rs533960093 0.00004
NM_000152.5(GAA):c.-104C>T rs960427191 0.00003
NM_000152.5(GAA):c.-32-5C>T rs775682001 0.00003
NM_000152.5(GAA):c.1075+12T>G rs370842677 0.00003
NM_000152.5(GAA):c.2132C>G (p.Thr711Arg) rs759292700 0.00003
NM_000152.5(GAA):c.2190-4G>A rs759974338 0.00003
NM_000152.5(GAA):c.351G>A (p.Leu117=) rs574947353 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.955+14C>A rs756921041 0.00003
NM_000152.5(GAA):c.-2C>T rs560511228 0.00002
NM_000152.5(GAA):c.1083G>A (p.Pro361=) rs781379047 0.00002
NM_000152.5(GAA):c.1194+17G>T rs548850587 0.00002
NM_000152.5(GAA):c.1560C>T (p.Asn520=) rs116322271 0.00002
NM_000152.5(GAA):c.1815C>T (p.Gly605=) rs756507404 0.00002
NM_000152.5(GAA):c.2445C>T (p.Asn815=) rs755846997 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.-33+17C>T rs1157266131 0.00001
NM_000152.5(GAA):c.-37A>G rs907981020 0.00001
NM_000152.5(GAA):c.1047C>T (p.Ser349=) rs138262940 0.00001
NM_000152.5(GAA):c.1146T>G (p.Ala382=) rs1259509761 0.00001
NM_000152.5(GAA):c.1410C>T (p.Asn470=) rs886043068 0.00001
NM_000152.5(GAA):c.1551+12C>A rs937342824 0.00001
NM_000152.5(GAA):c.1842G>A (p.Thr614=) rs373955374 0.00001
NM_000152.5(GAA):c.2025C>T (p.Asn675=) rs143951130 0.00001
NM_000152.5(GAA):c.2041-17C>T rs746028622 0.00001
NM_000152.5(GAA):c.2166C>T (p.Thr722=) rs759452172 0.00001
NM_000152.5(GAA):c.231A>G (p.Ala77=) rs748580998 0.00001
NM_000152.5(GAA):c.2820G>A (p.Ser940=) rs992579033 0.00001
NM_000152.5(GAA):c.615G>A (p.Pro205=) rs141427808 0.00001
NM_000152.5(GAA):c.692+9T>C rs367661167 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.858+14C>T rs746986703 0.00001
NM_000152.5(GAA):c.-103G>A rs1598564555
NM_000152.5(GAA):c.-32-4G>A rs760925777
NM_000152.5(GAA):c.-9T>C rs780064272
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.1209C>T (p.Asn403=) rs751333479
NM_000152.5(GAA):c.1437+20G>A rs768737799
NM_000152.5(GAA):c.1438-7_1438-5del rs764583466
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.1536C>T (p.Phe512=) rs143491365
NM_000152.5(GAA):c.1636+118G>A rs4889817
NM_000152.5(GAA):c.1637-138C>T rs185604303
NM_000152.5(GAA):c.1755-200dup rs71163924
NM_000152.5(GAA):c.2040+19_2040+20inv
NM_000152.5(GAA):c.2041-17C>A rs746028622
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.2101C>T (p.Leu701=) rs772378218
NM_000152.5(GAA):c.2332-40C>G rs201904830
NM_000152.5(GAA):c.2430C>T (p.Pro810=) rs554839058
NM_000152.5(GAA):c.2647-6G>A rs201525743
NM_000152.5(GAA):c.2800-15CT[3] rs770227589
NM_000152.5(GAA):c.297C>G (p.Thr99=) rs771846178
NM_000152.5(GAA):c.547-176TCC[2]
NM_000152.5(GAA):c.573C>T (p.Tyr191=) rs376229714
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+8_858+10delinsAGCGGGCGGT rs1555599729

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