ClinVar Miner

List of variants studied for Danon disease by Baylor Genetics

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_002294.3(LAMP2):c.1217G>T (p.Gly406Val) rs2058522120
NM_002294.3(LAMP2):c.138G>A (p.Trp46Ter) rs1271031981
NM_002294.3(LAMP2):c.595C>T (p.Pro199Ser)
NM_002294.3(LAMP2):c.614_615del (p.Val205fs) rs2058605108

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