ClinVar Miner

List of variants reported as pathogenic for Danon disease by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 65
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HGVS dbSNP gnomAD frequency
NC_000023.10:g.(?_119565168)_(119603034_?)del
NC_000023.10:g.(?_119565178)_(119576537_?)del
NC_000023.10:g.(?_119565178)_(119603024_?)del
NC_000023.10:g.(?_119575565)_(119576537_?)del
NC_000023.10:g.(?_119576434)_(119603024_?)del
NC_000023.10:g.(?_119580140)_(119580302_?)del
NC_000023.10:g.(?_119602941)_(119603024_?)del
NC_000023.11:g.(?_120428464)_(120469189_?)del
NC_000023.11:g.(?_120431313)_(120470223_?)del
NC_000023.11:g.(?_120441710)_(120449148_?)del
NM_002294.3(LAMP2):c.1013C>G (p.Ser338Ter) rs1060502305
NM_002294.3(LAMP2):c.1037del (p.Asn346fs) rs2058573264
NM_002294.3(LAMP2):c.1041del (p.Phe348fs) rs2147278864
NM_002294.3(LAMP2):c.1057C>T (p.Gln353Ter) rs2147278858
NM_002294.3(LAMP2):c.1093+1G>A rs727504742
NM_002294.3(LAMP2):c.123C>A (p.Cys41Ter)
NM_002294.3(LAMP2):c.124del (p.Leu42fs) rs2147287645
NM_002294.3(LAMP2):c.129T>A (p.Tyr43Ter)
NM_002294.3(LAMP2):c.137G>A (p.Trp46Ter) rs1569371591
NM_002294.3(LAMP2):c.139C>T (p.Gln47Ter) rs2147287624
NM_002294.3(LAMP2):c.152_153del (p.Thr51fs)
NM_002294.3(LAMP2):c.183+1G>A rs727503120
NM_002294.3(LAMP2):c.183+2T>C rs2147287565
NM_002294.3(LAMP2):c.183T>A (p.Tyr61Ter) rs397516736
NM_002294.3(LAMP2):c.183T>G (p.Tyr61Ter) rs397516736
NM_002294.3(LAMP2):c.190_191del (p.Val64fs) rs1569371330
NM_002294.3(LAMP2):c.198_207del (p.Ile66fs)
NM_002294.3(LAMP2):c.205_218del (p.His69fs) rs1602540152
NM_002294.3(LAMP2):c.222T>A (p.Tyr74Ter)
NM_002294.3(LAMP2):c.235_243delinsGTGG (p.Cys79fs) rs1921053197
NM_002294.3(LAMP2):c.264dup (p.Ala89fs)
NM_002294.3(LAMP2):c.293G>A (p.Trp98Ter) rs397516740
NM_002294.3(LAMP2):c.34dup (p.Ser12fs) rs1921663802
NM_002294.3(LAMP2):c.391del (p.Asp131fs) rs2147286730
NM_002294.3(LAMP2):c.415_469dup (p.Ser157Ter) rs1569369940
NM_002294.3(LAMP2):c.467T>G (p.Leu156Ter) rs1385890053
NM_002294.3(LAMP2):c.520C>T (p.Gln174Ter) rs104894857
NM_002294.3(LAMP2):c.546_548delinsTA (p.Ser183fs) rs1060502302
NM_002294.3(LAMP2):c.54C>A (p.Cys18Ter) rs2147294814
NM_002294.3(LAMP2):c.565del (p.Cys189fs)
NM_002294.3(LAMP2):c.64+1G>C rs957313991
NM_002294.3(LAMP2):c.646G>T (p.Glu216Ter) rs2147282434
NM_002294.3(LAMP2):c.64G>T (p.Gly22Ter) rs2147294800
NM_002294.3(LAMP2):c.653del (p.Pro218fs)
NM_002294.3(LAMP2):c.659dup (p.Gly221fs) rs1556101640
NM_002294.3(LAMP2):c.696T>A (p.Cys232Ter) rs1556101523
NM_002294.3(LAMP2):c.72_96del (p.Val24_Arg25insTer)
NM_002294.3(LAMP2):c.73_74delinsTA (p.Arg25Ter)
NM_002294.3(LAMP2):c.741+1G>A rs1251075016
NM_002294.3(LAMP2):c.741+2T>A rs2147282355
NM_002294.3(LAMP2):c.753dup (p.Ile252fs)
NM_002294.3(LAMP2):c.763_768delinsTGAAGT (p.Asn255_Pro256delinsTer) rs2058596487
NM_002294.3(LAMP2):c.774_780del (p.Thr259fs)
NM_002294.3(LAMP2):c.788del (p.Gly263fs) rs1060502303
NM_002294.3(LAMP2):c.843T>G (p.Tyr281Ter) rs1569369194
NM_002294.3(LAMP2):c.864+3_864+6del rs397516751
NM_002294.3(LAMP2):c.877C>T (p.Arg293Ter) rs727503118
NM_002294.3(LAMP2):c.88G>T (p.Glu30Ter)
NM_002294.3(LAMP2):c.928G>A (p.Val310Ile) rs104894858
NM_002294.3(LAMP2):c.928G>C (p.Val310Leu) rs104894858
NM_002294.3(LAMP2):c.928G>T (p.Val310Phe) rs104894858
NM_002294.3(LAMP2):c.929-197_1070del rs2147278850
NM_002294.3(LAMP2):c.955del (p.Ser319fs) rs2147278957
NM_002294.3(LAMP2):c.962G>A (p.Trp321Ter) rs1060502306
NM_002294.3(LAMP2):c.973dup (p.Leu325fs) rs1556092459

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