ClinVar Miner

List of variants in gene GAA reported by OMIM

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Gene type:
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Total variants: 18
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HGVS dbSNP gnomAD frequency
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.-32-13T>G rs386834236 0.00384
NM_000152.5(GAA):c.2560C>T (p.Arg854Ter) rs121907943 0.00063
NM_000152.5(GAA):c.525del (p.Glu176fs) rs386834235 0.00019
NM_000152.5(GAA):c.953T>C (p.Met318Thr) rs121907936 0.00006
NM_000152.5(GAA):c.1935C>A (p.Asp645Glu) rs28940868 0.00004
NM_000152.5(GAA):c.2173C>T (p.Arg725Trp) rs121907938 0.00003
NM_000152.5(GAA):c.877G>A (p.Gly293Arg) rs121907945 0.00003
NM_000152.5(GAA):c.1634C>T (p.Pro545Leu) rs121907942 0.00002
NM_000152.5(GAA):c.1927G>A (p.Gly643Arg) rs28937909 0.00002
NM_000152.5(GAA):c.1561G>A (p.Glu521Lys) rs121907937 0.00001
NM_000152.5(GAA):c.1076-1G>A rs1555600050
NM_000152.5(GAA):c.1585_1586delinsGT (p.Ser529Val) rs121907941
NM_000152.5(GAA):c.2483_2646+1del rs1555603048
NM_000152.5(GAA):c.2707_2709del (p.Lys903del) rs121907939
NM_000152.5(GAA):c.710C>T (p.Ala237Val) rs121907944
NM_000152.5(GAA):c.896T>G (p.Leu299Arg) rs121907940

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