ClinVar Miner

List of variants in gene GAA reported as uncertain significance by Mayo Clinic Laboratories, Mayo Clinic

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Gene type:
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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_000152.5(GAA):c.915G>A (p.Gly305=) rs150343359 0.00113
NM_000152.5(GAA):c.257C>G (p.Pro86Arg) rs2229222 0.00038
NM_000152.5(GAA):c.2332-10C>G rs373606162 0.00026
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.725C>A (p.Ala242Glu) rs745861849 0.00010
NM_000152.5(GAA):c.1630G>A (p.Val544Met) rs567695610 0.00009
NM_000152.5(GAA):c.664G>A (p.Val222Met) rs374569672 0.00009
NM_000152.5(GAA):c.266G>A (p.Arg89His) rs200586324 0.00006
NM_000152.5(GAA):c.2331G>A (p.Thr777=) rs375311693 0.00004
NM_000152.5(GAA):c.2057G>A (p.Ser686Asn) rs1355454728 0.00003
NM_000152.5(GAA):c.2758G>A (p.Gly920Ser) rs375021198 0.00003
NM_000152.5(GAA):c.1388G>A (p.Arg463Gln) rs886053545 0.00002
NM_000152.5(GAA):c.868A>G (p.Asn290Asp) rs552929702 0.00002
NM_000152.5(GAA):c.1607A>G (p.Asn536Ser) rs368568190 0.00001
NM_000152.5(GAA):c.795T>A (p.Ser265Arg) rs779785396 0.00001
NM_000152.5(GAA):c.1069G>A (p.Val357Ile) rs754449703
NM_000152.5(GAA):c.1536C>A (p.Phe512Leu) rs143491365
NM_000152.5(GAA):c.1841C>T (p.Thr614Met) rs369531647
NM_000152.5(GAA):c.1903A>G (p.Asn635Asp) rs2143891559
NM_000152.5(GAA):c.212A>G (p.His71Arg) rs760205477
NM_000152.5(GAA):c.2132_2133delinsGG (p.Thr711Arg) rs1555601773
NM_000152.5(GAA):c.2155G>T (p.Ala719Ser) rs143324027
NM_000152.5(GAA):c.710C>A (p.Ala237Glu)

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