ClinVar Miner

List of variants in gene LAMP2 reported as likely pathogenic for Danon disease

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NC_000023.10:g.(?_119589192)_(119589445_?)dup
NM_002294.2(LAMP2):c.(?_929)_(1233_?)del
NM_002294.3(LAMP2):c.1082del (p.Lys361fs) rs1436664364
NM_002294.3(LAMP2):c.183_183+4del
NM_002294.3(LAMP2):c.183dup (p.Lys62Ter)
NM_002294.3(LAMP2):c.190_191del (p.Val64fs) rs1569371330
NM_002294.3(LAMP2):c.2T>C (p.Met1Thr)
NM_002294.3(LAMP2):c.3G>A (p.Met1Ile) rs2147294924
NM_002294.3(LAMP2):c.463del (p.Ser155fs) rs193922649
NM_002294.3(LAMP2):c.65-1G>C rs730880496
NM_002294.3(LAMP2):c.768del (p.Asn257fs) rs2147281483
NM_002294.3(LAMP2):c.795C>A (p.Cys265Ter) rs730880483
NM_002294.3(LAMP2):c.864G>A (p.Val288=) rs2147281364
NM_002294.3(LAMP2):c.912T>G (p.Tyr304Ter) rs876657648
NM_002294.3(LAMP2):c.929-1G>A rs727504262

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