ClinVar Miner

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

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Gene type:
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Total variants: 14
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NM_002294.2(LAMP2):c.128_129dup (p.Ala44fs) rs730880344
NM_002294.2(LAMP2):c.183+1G>A rs727503120
NM_002294.2(LAMP2):c.183T>A (p.Tyr61Ter) rs397516736
NM_002294.2(LAMP2):c.183T>G (p.Tyr61Ter) rs397516736
NM_002294.2(LAMP2):c.191del (p.Val64fs) rs397516738
NM_002294.2(LAMP2):c.217dup (p.Thr73fs) rs397516739
NM_002294.2(LAMP2):c.463del (p.Ser155fs) rs193922649
NM_002294.2(LAMP2):c.864+3_864+6del rs397516751
NM_002294.2(LAMP2):c.865-1G>C rs397516752
NM_002294.2(LAMP2):c.912T>G (p.Tyr304Ter) rs876657648
NM_002294.2(LAMP2):c.929-1G>A rs727504262
NM_002294.2(LAMP2):c.999del (p.Glu334fs) rs727504557

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