ClinVar Miner

List of variants in gene GAA reported as benign by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 21
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HGVS dbSNP
NC_000017.11:g.80107508C>T
NC_000017.11:g.80109706_80109711del
NM_000152.5(GAA):c.1075+13C>T rs41292402
NM_000152.5(GAA):c.1327-179G>A
NM_000152.5(GAA):c.1327-269A>G
NM_000152.5(GAA):c.1438-220A>G
NM_000152.5(GAA):c.1636+210G>A
NM_000152.5(GAA):c.1726G>A (p.Gly576Ser) rs1800307
NM_000152.5(GAA):c.2189+263G>A
NM_000152.5(GAA):c.2332-198A>T
NM_000152.5(GAA):c.2400C>T (p.Ser800=) rs115705591
NM_000152.5(GAA):c.2668G>C (p.Val890Leu) rs377286472
NM_000152.5(GAA):c.2780C>T (p.Thr927Ile) rs1800315
NM_000152.5(GAA):c.2800-227C>T
NM_000152.5(GAA):c.447G>A (p.Thr149=) rs2289536
NM_000152.5(GAA):c.546+293G>A
NM_000152.5(GAA):c.547-238T>C
NM_000152.5(GAA):c.547-243C>G
NM_000152.5(GAA):c.693-216T>C
NM_000152.5(GAA):c.852G>A (p.Ala284=) rs142626724
NM_000152.5(GAA):c.858+7_858+8insAGCGGGC rs3071247

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