ClinVar Miner

List of variants studied for Danon disease by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_002294.3(LAMP2):c.1093+2478A>G rs140936359 0.00014
NM_002294.3(LAMP2):c.778C>T (p.His260Tyr) rs778577575 0.00002
NM_002294.3(LAMP2):c.584_585insGC (p.Thr196fs)

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