ClinVar Miner

List of variants in gene GAA reported by Illumina Clinical Services Laboratory,Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 74
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HGVS dbSNP
NM_000152.3(GAA):c.2065G>A (p.Glu689Lys) rs1800309
NM_000152.5(GAA):c.*128T>C rs886053549
NM_000152.5(GAA):c.*139dup rs865903736
NM_000152.5(GAA):c.*223C>T rs8132
NM_000152.5(GAA):c.*288G>T rs568131293
NM_000152.5(GAA):c.*309C>T rs886053550
NM_000152.5(GAA):c.*3G>A rs1800317
NM_000152.5(GAA):c.*419G>T rs7567
NM_000152.5(GAA):c.*443G>A rs147801821
NM_000152.5(GAA):c.*521A>G rs142506588
NM_000152.5(GAA):c.*91G>A rs2229221
NM_000152.5(GAA):c.*98A>T rs886053548
NM_000152.5(GAA):c.-236C>T rs886053541
NM_000152.5(GAA):c.-312C>T rs574326920
NM_000152.5(GAA):c.-32-13T>G rs386834236
NM_000152.5(GAA):c.-62A>C rs367731841
NM_000152.5(GAA):c.1075+12T>G rs370842677
NM_000152.5(GAA):c.1195-15G>A rs373840229
NM_000152.5(GAA):c.11G>A (p.Arg4Lys) rs372147077
NM_000152.5(GAA):c.1203G>A (p.Gln401=) rs1800304
NM_000152.5(GAA):c.131G>T (p.Gly44Val) rs550609502
NM_000152.5(GAA):c.1320G>C (p.Met440Ile) rs550837627
NM_000152.5(GAA):c.1374C>T (p.Tyr458=) rs1800305
NM_000152.5(GAA):c.1388G>A (p.Arg463Gln) rs886053545
NM_000152.5(GAA):c.1504A>G (p.Met502Val) rs376067362
NM_000152.5(GAA):c.1552-13G>A rs111261964
NM_000152.5(GAA):c.1581G>A (p.Arg527=) rs1042396
NM_000152.5(GAA):c.1726G>A (p.Gly576Ser) rs1800307
NM_000152.5(GAA):c.1754+12G>A rs2304840
NM_000152.5(GAA):c.1933G>A (p.Asp645Asn) rs368438393
NM_000152.5(GAA):c.197G>A (p.Arg66Gln) rs200202628
NM_000152.5(GAA):c.2014C>T (p.Arg672Trp) rs757111744
NM_000152.5(GAA):c.2030T>A (p.Leu677Gln) rs886053546
NM_000152.5(GAA):c.2051C>T (p.Pro684Leu) rs147327209
NM_000152.5(GAA):c.2064C>T (p.Ser688=) rs140996643
NM_000152.5(GAA):c.2133A>G (p.Thr711=) rs1800310
NM_000152.5(GAA):c.2151C>T (p.His717=) rs758725073
NM_000152.5(GAA):c.2152G>A (p.Val718Ile) rs141017311
NM_000152.5(GAA):c.2238G>C (p.Trp746Cys) rs1800312
NM_000152.5(GAA):c.2307G>C (p.Leu769Phe) rs372800172
NM_000152.5(GAA):c.2319C>T (p.Tyr773=) rs377402848
NM_000152.5(GAA):c.2330C>T (p.Thr777Met) rs746779016
NM_000152.5(GAA):c.2338G>A (p.Val780Ile) rs1126690
NM_000152.5(GAA):c.2415G>A (p.Val805=) rs150536507
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.2553G>A (p.Gly851=) rs1042397
NM_000152.5(GAA):c.257C>G (p.Pro86Arg) rs2229222
NM_000152.5(GAA):c.2668G>C (p.Val890Leu) rs377286472
NM_000152.5(GAA):c.2672G>C (p.Arg891Pro) rs199524847
NM_000152.5(GAA):c.2753C>T (p.Ser918Phe) rs773667152
NM_000152.5(GAA):c.2780C>T (p.Thr927Ile) rs1800315
NM_000152.5(GAA):c.2800-11C>G rs374571499
NM_000152.5(GAA):c.2800-9C>G rs886053547
NM_000152.5(GAA):c.2842C>T (p.Leu948Phe) rs769312350
NM_000152.5(GAA):c.395G>C (p.Ser132Thr) rs772908626
NM_000152.5(GAA):c.447G>A (p.Thr149=) rs2289536
NM_000152.5(GAA):c.503G>A (p.Arg168Gln) rs376685205
NM_000152.5(GAA):c.511G>A (p.Val171Met) rs886053543
NM_000152.5(GAA):c.525del (p.Glu176fs) rs386834235
NM_000152.5(GAA):c.531C>T (p.Asn177=) rs886053544
NM_000152.5(GAA):c.547-4C>G rs3816256
NM_000152.5(GAA):c.54C>T (p.Leu18=) rs886053542
NM_000152.5(GAA):c.596A>G (p.His199Arg) rs1042393
NM_000152.5(GAA):c.642C>T (p.Ser214=) rs1800301
NM_000152.5(GAA):c.668G>A (p.Arg223His) rs1042395
NM_000152.5(GAA):c.705G>A (p.Thr235=) rs2304846
NM_000152.5(GAA):c.726G>A (p.Ala242=) rs148578399
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.858+10C>T rs758283022
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

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