ClinVar Miner

List of variants in gene GAA reported as likely benign by Counsyl

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Gene type:
ClinVar version:
Total variants: 7
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HGVS dbSNP
NM_000152.4(GAA):c.858+7_858+8ins14 rs3071247
NM_000152.4(GAA):c.858+7_858+8ins21 rs3071247
NM_000152.5(GAA):c.1754+21C>T rs373387713
NM_000152.5(GAA):c.1888+49_1888+72del rs1555601511
NM_000152.5(GAA):c.1888+51_1888+74del rs1555601512
NM_000152.5(GAA):c.2040+16C>T rs573522544
NM_000152.5(GAA):c.668G>A (p.Arg223His) rs1042395

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