ClinVar Miner

List of variants studied for Danon disease by OMIM

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_002294.3(LAMP2):c.1082del (p.Lys361fs) rs1436664364
NM_002294.3(LAMP2):c.1093+2440_1093+2441del rs2147277541
NM_002294.3(LAMP2):c.14del (p.Arg5fs) rs1183994410
NM_002294.3(LAMP2):c.36_42del (p.Gly13fs) rs1436181133
NM_002294.3(LAMP2):c.440T>A (p.Leu147Ter) rs137852527
NM_002294.3(LAMP2):c.520C>T (p.Gln174Ter) rs104894857
NM_002294.3(LAMP2):c.741+1G>A rs1251075016
NM_002294.3(LAMP2):c.864+4A>G rs2147281356
NM_002294.3(LAMP2):c.864+5G>C rs1352584474
NM_002294.3(LAMP2):c.883dup (p.Tyr295fs) rs1327363415
NM_002294.3(LAMP2):c.928G>A (p.Val310Ile) rs104894858
NM_002294.3(LAMP2):c.961T>C (p.Trp321Arg) rs104894859
NM_002294.3(LAMP2):c.974delinsAA (p.Leu325fs)

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