ClinVar Miner

List of variants in gene LAMP2 reported as pathogenic by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 2
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HGVS dbSNP
NM_002294.3(LAMP2):c.877C>T (p.Arg293Ter) rs727503118
NM_013995.2(LAMP2):c.579_586del (p.Lys193fs) rs398123685

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