ClinVar Miner

List of variants in gene GAA reported as likely pathogenic by Integrated Genetics/Laboratory Corporation of America

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP
NM_000152.5(GAA):c.1951_1952delinsT (p.Gly651fs) rs1567835781
NM_000152.5(GAA):c.1952del (p.Gly651fs) rs1567835775
NM_000152.5(GAA):c.858+2T>A rs1555599713
NM_000152.5(GAA):c.953T>C (p.Met318Thr) rs121907936
NM_000152.5(GAA):c.971C>T (p.Pro324Leu) rs750030887

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