ClinVar Miner

List of variants in gene LAMP2 reported as likely pathogenic by Blueprint Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_002294.3(LAMP2):c.669T>G (p.Tyr223Ter) rs1602535807
NM_002294.3(LAMP2):c.795C>A (p.Cys265Ter) rs730880483
NM_002294.3(LAMP2):c.834del (p.Ile279fs) rs1602534666

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