ClinVar Miner

List of variants in gene LAMP2 reported as pathogenic by Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine

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Total variants: 10
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HGVS dbSNP
NM_002294.2(LAMP2):c.1093+1G>A rs727504742
NM_002294.2(LAMP2):c.293G>A (p.Trp98Ter) rs397516740
NM_002294.2(LAMP2):c.65-2A>G rs397516743
NM_002294.2(LAMP2):c.864+1G>T rs727503119
NM_002294.2(LAMP2):c.877C>T (p.Arg293Ter) rs727503118
NM_002294.2(LAMP2):c.928G>A (p.Val310Ile) rs104894858
NM_013995.2(LAMP2):c.1020del (p.Gly341fs) rs727504597
NM_013995.2(LAMP2):c.121del (p.Cys41fs) rs727504600
NM_013995.2(LAMP2):c.294G>A (p.Trp98Ter) rs876657696
NM_013995.2(LAMP2):c.851_852del (p.Phe284fs) rs727504648

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