ClinVar Miner

List of variants reported as likely pathogenic for Danon disease by Invitae

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NC_000023.10:g.(?_119589192)_(119589445_?)dup
NM_002294.3(LAMP2):c.1082del (p.Lys361fs) rs1436664364
NM_002294.3(LAMP2):c.183_183+4del
NM_002294.3(LAMP2):c.65-1G>C rs730880496
NM_002294.3(LAMP2):c.864G>A (p.Val288=) rs2147281364

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