ClinVar Miner

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

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 7
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NM_000152.5(GAA):c.-32-13T>G rs386834236
NM_000152.5(GAA):c.1655T>C (p.Leu552Pro) rs779556619
NM_000152.5(GAA):c.169C>T (p.Gln57Ter) rs1057516251
NM_000152.5(GAA):c.1979G>A (p.Arg660His) rs374143224
NM_000152.5(GAA):c.2238G>C (p.Trp746Cys) rs1800312
NM_000152.5(GAA):c.2560C>T (p.Arg854Ter) rs121907943
NM_000152.5(GAA):c.2608C>T (p.Arg870Ter) rs780321415

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