ClinVar Miner

List of variants in gene GAA reported as uncertain significance by Fulgent Genetics, Fulgent Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 99
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HGVS dbSNP gnomAD frequency
NM_000152.5(GAA):c.*288G>T rs568131293 0.00113
NM_000152.5(GAA):c.922C>T (p.His308Tyr) rs112025212 0.00024
NM_000152.5(GAA):c.1310G>A (p.Arg437His) rs150868652 0.00023
NM_000152.5(GAA):c.2245G>T (p.Ala749Ser) rs148311222 0.00021
NM_000152.5(GAA):c.1232G>A (p.Arg411Gln) rs372799904 0.00018
NM_000152.5(GAA):c.131G>T (p.Gly44Val) rs550609502 0.00017
NM_000152.5(GAA):c.1320G>T (p.Met440Ile) rs550837627 0.00017
NM_000152.5(GAA):c.1888+5G>T rs528282884 0.00014
NM_000152.5(GAA):c.1288G>A (p.Glu430Lys) rs375433002 0.00012
NM_000152.5(GAA):c.725C>A (p.Ala242Glu) rs745861849 0.00010
NM_000152.5(GAA):c.851C>G (p.Ala284Gly) rs147569830 0.00010
NM_000152.5(GAA):c.1630G>A (p.Val544Met) rs567695610 0.00009
NM_000152.5(GAA):c.546+6C>T rs375727055 0.00009
NM_000152.5(GAA):c.1048G>A (p.Val350Met) rs200412003 0.00007
NM_000152.5(GAA):c.1392G>C (p.Arg464Ser) rs372786811 0.00007
NM_000152.5(GAA):c.1504A>G (p.Met502Val) rs376067362 0.00007
NM_000152.5(GAA):c.658G>T (p.Val220Leu) rs530478036 0.00007
NM_000152.5(GAA):c.857C>T (p.Thr286Met) rs375310352 0.00007
NM_000152.5(GAA):c.1823G>A (p.Arg608Gln) rs377126280 0.00006
NM_000152.5(GAA):c.2051C>T (p.Pro684Leu) rs147327209 0.00006
NM_000152.5(GAA):c.359C>G (p.Ala120Gly) rs779208773 0.00006
NM_000152.5(GAA):c.420C>A (p.Asn140Lys) rs560661191 0.00006
NM_000152.5(GAA):c.862G>A (p.Gly288Ser) rs200125735 0.00006
NM_000152.5(GAA):c.1409A>C (p.Asn470Thr) rs144155165 0.00005
NM_000152.5(GAA):c.1639G>A (p.Val547Met) rs751102729 0.00005
NM_000152.5(GAA):c.2408A>G (p.Gln803Arg) rs142487534 0.00005
NM_000152.5(GAA):c.2481+15C>T rs771155956 0.00005
NM_000152.5(GAA):c.1828G>A (p.Ala610Thr) rs144731405 0.00004
NM_000152.5(GAA):c.2331G>A (p.Thr777=) rs375311693 0.00004
NM_000152.5(GAA):c.2423C>T (p.Pro808Leu) rs773498009 0.00004
NM_000152.5(GAA):c.502C>T (p.Arg168Trp) rs777473001 0.00004
NM_000152.5(GAA):c.781G>A (p.Ala261Thr) rs543360994 0.00004
NM_000152.5(GAA):c.1264C>T (p.Arg422Trp) rs776704385 0.00003
NM_000152.5(GAA):c.1849G>A (p.Val617Met) rs767977395 0.00003
NM_000152.5(GAA):c.426C>A (p.Ser142Arg) rs762255493 0.00003
NM_000152.5(GAA):c.686G>A (p.Arg229His) rs776509432 0.00003
NM_000152.5(GAA):c.1147A>G (p.Ile383Val) rs794727837 0.00002
NM_000152.5(GAA):c.1307G>A (p.Arg436Gln) rs748788550 0.00002
NM_000152.5(GAA):c.2164A>T (p.Thr722Ser) rs774307734 0.00002
NM_000152.5(GAA):c.2404G>A (p.Gly802Arg) rs148412962 0.00002
NM_000152.5(GAA):c.2458G>T (p.Ala820Ser) rs745378120 0.00002
NM_000152.5(GAA):c.2597A>T (p.Glu866Val) rs951742543 0.00002
NM_000152.5(GAA):c.317G>A (p.Arg106His) rs772534106 0.00002
NM_000152.5(GAA):c.446C>T (p.Thr149Met) rs750628023 0.00002
NM_000152.5(GAA):c.460C>T (p.Arg154Cys) rs539841659 0.00002
NM_000152.5(GAA):c.614C>T (p.Pro205Leu) rs775065551 0.00002
NM_000152.5(GAA):c.858G>A (p.Thr286=) rs201056962 0.00002
NM_000152.5(GAA):c.1076-3C>T rs1220435321 0.00001
NM_000152.5(GAA):c.1133A>G (p.Tyr378Cys) rs963719602 0.00001
NM_000152.5(GAA):c.1231C>T (p.Arg411Trp) rs772730706 0.00001
NM_000152.5(GAA):c.1326+20G>A rs774138443 0.00001
NM_000152.5(GAA):c.1361G>A (p.Ser454Asn) rs2039191738 0.00001
NM_000152.5(GAA):c.1402A>T (p.Ile468Phe) rs886043148 0.00001
NM_000152.5(GAA):c.1406C>T (p.Thr469Ile) rs768500880 0.00001
NM_000152.5(GAA):c.1594G>A (p.Gly532Ser) rs773576381 0.00001
NM_000152.5(GAA):c.1643T>C (p.Val548Ala) rs754686630 0.00001
NM_000152.5(GAA):c.1757C>T (p.Ala586Val) rs770021831 0.00001
NM_000152.5(GAA):c.1771C>T (p.Arg591Trp) rs770983413 0.00001
NM_000152.5(GAA):c.1772G>A (p.Arg591Gln) rs528010457 0.00001
NM_000152.5(GAA):c.1876T>G (p.Ser626Ala) rs1235035841 0.00001
NM_000152.5(GAA):c.206A>G (p.Gln69Arg) rs767191385 0.00001
NM_000152.5(GAA):c.217G>A (p.Gly73Ser) rs760644219 0.00001
NM_000152.5(GAA):c.2198A>G (p.Lys733Arg) rs763612880 0.00001
NM_000152.5(GAA):c.2521A>G (p.Met841Val) rs1184116513 0.00001
NM_000152.5(GAA):c.265C>T (p.Arg89Cys) rs534192892 0.00001
NM_000152.5(GAA):c.2819C>T (p.Ser940Leu) rs1343332597 0.00001
NM_000152.5(GAA):c.347G>T (p.Gly116Val) rs754285414 0.00001
NM_000152.5(GAA):c.425G>A (p.Ser142Asn) rs754195673 0.00001
NM_000152.5(GAA):c.461G>A (p.Arg154His) rs781124934 0.00001
NM_000152.5(GAA):c.514A>G (p.Met172Val) rs1307823755 0.00001
NM_000152.5(GAA):c.532C>T (p.Arg178Cys) rs762439362 0.00001
NM_000152.5(GAA):c.576G>C (p.Glu192Asp) rs760655446 0.00001
NM_000152.5(GAA):c.683G>A (p.Gly228Asp) rs1470881018 0.00001
NM_000152.5(GAA):c.*313C>G rs926145648
NM_000152.5(GAA):c.1136C>A (p.Ser379Tyr) rs377233099
NM_000152.5(GAA):c.1219T>C (p.Tyr407His) rs727503939
NM_000152.5(GAA):c.1498G>A (p.Glu500Lys) rs1473805095
NM_000152.5(GAA):c.1601C>T (p.Pro534Leu) rs1039935633
NM_000152.5(GAA):c.1629_1630delinsTA (p.Val544Met) rs1598582152
NM_000152.5(GAA):c.1658A>G (p.Gln553Arg) rs746401921
NM_000152.5(GAA):c.1823G>T (p.Arg608Leu) rs377126280
NM_000152.5(GAA):c.2093C>T (p.Ala698Val) rs1001458871
NM_000152.5(GAA):c.2110G>A (p.Ala704Thr) rs375681364
NM_000152.5(GAA):c.2110G>T (p.Ala704Ser) rs375681364
NM_000152.5(GAA):c.2155G>A (p.Ala719Thr) rs143324027
NM_000152.5(GAA):c.2306T>C (p.Leu769Ser) rs2039369551
NM_000152.5(GAA):c.2330_2331+4dup rs762245732
NM_000152.5(GAA):c.2332-16C>T rs2039383167
NM_000152.5(GAA):c.2338G>C (p.Val780Leu) rs1126690
NM_000152.5(GAA):c.2368C>T (p.Pro790Ser) rs776111131
NM_000152.5(GAA):c.2505G>C (p.Glu835Asp) rs771259598
NM_000152.5(GAA):c.310G>A (p.Glu104Lys) rs201902338
NM_000152.5(GAA):c.545C>T (p.Thr182Met) rs200524747
NM_000152.5(GAA):c.688G>A (p.Val230Met) rs145866792
NM_000152.5(GAA):c.688G>C (p.Val230Leu) rs145866792
NM_000152.5(GAA):c.725C>T (p.Ala242Val) rs745861849
NM_000152.5(GAA):c.858+10C>T rs758283022
NM_000152.5(GAA):c.883C>A (p.His295Asn) rs751639773
NM_000152.5(GAA):c.956-3C>T rs1421879461

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