ClinVar Miner

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

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Total variants: 34
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HGVS dbSNP
LAMP2, 1-BP DEL, 1219A
LAMP2, 1-BP INS, 974A
LAMP2, 2-BP DEL, 1097AA
NC_000023.10:g.(?_119562319)_(119603044_?)del
NM_002294.2(LAMP2):c.1013C>G (p.Ser338Ter) rs1060502305
NM_002294.2(LAMP2):c.1093+1G>A rs727504742
NM_002294.2(LAMP2):c.121del (p.Cys41fs) rs727504600
NM_002294.2(LAMP2):c.137G>A (p.Trp46Ter) rs1569371591
NM_002294.2(LAMP2):c.138G>A (p.Trp46Ter) rs1271031981
NM_002294.2(LAMP2):c.14del (p.Arg5fs) rs1183994410
NM_002294.2(LAMP2):c.183+1G>A rs727503120
NM_002294.2(LAMP2):c.205_218del (p.His69fs)
NM_002294.2(LAMP2):c.293G>A (p.Trp98Ter) rs397516740
NM_002294.2(LAMP2):c.294G>A (p.Trp98Ter) rs876657696
NM_002294.2(LAMP2):c.36_42del (p.Gly13fs) rs1436181133
NM_002294.2(LAMP2):c.415_469dup (p.Ser157Ter) rs1569369940
NM_002294.2(LAMP2):c.440T>A (p.Leu147Ter) rs137852527
NM_002294.2(LAMP2):c.520C>T (p.Gln174Ter) rs104894857
NM_002294.2(LAMP2):c.546_548delinsTA (p.Ser183fs) rs1060502302
NM_002294.2(LAMP2):c.65-2A>G rs397516743
NM_002294.2(LAMP2):c.696T>A (p.Cys232Ter) rs1556101523
NM_002294.2(LAMP2):c.741+1G>A rs1251075016
NM_002294.2(LAMP2):c.788del (p.Gly263fs) rs1060502303
NM_002294.2(LAMP2):c.843T>G (p.Tyr281Ter) rs1569369194
NM_002294.2(LAMP2):c.851_852del (p.Phe284fs) rs727504648
NM_002294.2(LAMP2):c.864+1G>T rs727503119
NM_002294.2(LAMP2):c.864+3_864+6del rs397516751
NM_002294.2(LAMP2):c.864+5G>C rs1352584474
NM_002294.2(LAMP2):c.877C>T (p.Arg293Ter) rs727503118
NM_002294.2(LAMP2):c.883dup (p.Tyr295fs) rs1327363415
NM_002294.2(LAMP2):c.928G>A (p.Val310Ile) rs104894858
NM_002294.2(LAMP2):c.961T>C (p.Trp321Arg) rs104894859
NM_002294.2(LAMP2):c.962G>A (p.Trp321Ter) rs1060502306
NM_002294.2(LAMP2):c.973dup (p.Leu325fs) rs1556092459

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