ClinVar Miner

List of variants studied for Danon disease

Included ClinVar conditions (2):
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ClinVar version:
Total variants: 159
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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.(?_118986730)_(119603030_?)dup
NC_000023.11:g.(?_120428464)_(120469189_?)del
NC_000023.11:g.(?_120441710)_(120449148_?)del
NM_001122606.1(LAMP2):c.-26_-15dupGCCGTCGCCGCC rs1556124241
NM_001122606.1(LAMP2):c.1093+2514G>A rs144140265
NM_001122606.1(LAMP2):c.14del (p.Arg5Profs)
NM_001122606.1(LAMP2):c.183T>A (p.Tyr61Ter) rs397516736
NM_001122606.1(LAMP2):c.183T>G (p.Tyr61Ter) rs397516736
NM_001122606.1(LAMP2):c.294G>A (p.Trp98Ter) rs876657696
NM_001122606.1(LAMP2):c.36_42del (p.Gly13Phefs)
NM_001122606.1(LAMP2):c.440T>A (p.Leu147Ter) rs137852527
NM_001122606.1(LAMP2):c.546_548delGAGinsTA (p.Ser183Thrfs) rs1060502302
NM_001122606.1(LAMP2):c.883dup (p.Tyr295Leufs)
NM_001122606.1(LAMP2):c.961T>C (p.Trp321Arg) rs104894859
NM_002294.2(LAMP2):c.(?_398)-60_(741_?)+68del
NM_002294.2(LAMP2):c.*1071G>T rs2285548
NM_002294.2(LAMP2):c.*1096T>C rs5957382
NM_002294.2(LAMP2):c.*1191A>T rs1004327482
NM_002294.2(LAMP2):c.*1314T>C rs5957381
NM_002294.2(LAMP2):c.*1356C>G rs188897063
NM_002294.2(LAMP2):c.*1589A>G rs73612906
NM_002294.2(LAMP2):c.*1617C>T rs141881232
NM_002294.2(LAMP2):c.*1632A>G rs755434692
NM_002294.2(LAMP2):c.*1672C>T rs1024440041
NM_002294.2(LAMP2):c.*1701dupT rs373005118
NM_002294.2(LAMP2):c.*2005C>G rs200014321
NM_002294.2(LAMP2):c.*205C>T rs41300191
NM_002294.2(LAMP2):c.*2148A>G rs756504749
NM_002294.2(LAMP2):c.*2158_*2161dupATAT rs753399289
NM_002294.2(LAMP2):c.*2160_*2161dupAT rs753399289
NM_002294.2(LAMP2):c.*2162G>A rs767123866
NM_002294.2(LAMP2):c.*2183T>C rs765214315
NM_002294.2(LAMP2):c.*2195T>C rs13441024
NM_002294.2(LAMP2):c.*2261A>G rs12395643
NM_002294.2(LAMP2):c.*2395A>G rs10127185
NM_002294.2(LAMP2):c.*2460A>G rs10127182
NM_002294.2(LAMP2):c.*2524T>C rs150119198
NM_002294.2(LAMP2):c.*2538A>C rs1057515739
NM_002294.2(LAMP2):c.*2736T>A rs1057515738
NM_002294.2(LAMP2):c.*2746A>G rs3827478
NM_002294.2(LAMP2):c.*297A>C rs8160
NM_002294.2(LAMP2):c.*3031dupT rs113549733
NM_002294.2(LAMP2):c.*3248G>A rs5957380
NM_002294.2(LAMP2):c.*3249T>C rs41300908
NM_002294.2(LAMP2):c.*3351_*3354delGTTA rs764018077
NM_002294.2(LAMP2):c.*33A>G rs745798436
NM_002294.2(LAMP2):c.*3468_*3470delGTT rs199705754
NM_002294.2(LAMP2):c.*3677C>A rs1057515737
NM_002294.2(LAMP2):c.*3687T>C rs185627568
NM_002294.2(LAMP2):c.*3689T>C rs975386272
NM_002294.2(LAMP2):c.*4562A>G rs142200759
NM_002294.2(LAMP2):c.*4579A>G rs42885
NM_002294.2(LAMP2):c.*4671C>T rs1045953
NM_002294.2(LAMP2):c.*4763A>T rs761928368
NM_002294.2(LAMP2):c.*477T>C rs750939378
NM_002294.2(LAMP2):c.*4858A>G rs943561186
NM_002294.2(LAMP2):c.*486A>G rs5957383
NM_002294.2(LAMP2):c.*4961A>G rs765371462
NM_002294.2(LAMP2):c.*4963delG rs754879365
NM_002294.2(LAMP2):c.*5038A>G rs2748
NM_002294.2(LAMP2):c.*5048A>T rs113285013
NM_002294.2(LAMP2):c.*5172A>G rs778592348
NM_002294.2(LAMP2):c.*586A>G rs41312757
NM_002294.2(LAMP2):c.*653A>G rs1057515744
NM_002294.2(LAMP2):c.*692G>A rs1057515743
NM_002294.2(LAMP2):c.*721A>C rs887326511
NM_002294.2(LAMP2):c.*853G>A rs763861761
NM_002294.2(LAMP2):c.-103G>C rs1057515747
NM_002294.2(LAMP2):c.-154T>C rs999307628
NM_002294.2(LAMP2):c.-168dupC rs760941179
NM_002294.2(LAMP2):c.-23_-15delGTCGCCGCC rs193922648
NM_002294.2(LAMP2):c.-4G>C rs200297370
NM_002294.2(LAMP2):c.1013C>G (p.Ser338Ter) rs1060502305
NM_002294.2(LAMP2):c.1020delT (p.Gly341Glufs) rs727504597
NM_002294.2(LAMP2):c.1048C>G (p.Leu350Val) rs1057515745
NM_002294.2(LAMP2):c.1091C>T (p.Thr364Ile) rs183781327
NM_002294.2(LAMP2):c.1093+1G>A rs727504742
NM_002294.2(LAMP2):c.1093+2450G>A rs149783672
NM_002294.2(LAMP2):c.1093+2478A>G rs140936359
NM_002294.2(LAMP2):c.1093+2485T>C rs1301008847
NM_002294.2(LAMP2):c.1093+2544A>G rs777128122
NM_002294.2(LAMP2):c.1126C>A (p.Leu376Ile)
NM_002294.2(LAMP2):c.1140G>A (p.Ala380=) rs1029569080
NM_002294.2(LAMP2):c.1142T>C (p.Val381Ala) rs139633545
NM_002294.2(LAMP2):c.1191T>C (p.Phe397=) rs752231323
NM_002294.2(LAMP2):c.1213G>A (p.Ala405Thr) rs1556078130
NM_002294.2(LAMP2):c.121delT (p.Cys41Alafs) rs727504600
NM_002294.2(LAMP2):c.128_129dupAT (p.Ala44Metfs) rs730880344
NM_002294.2(LAMP2):c.137G>A (p.Trp46Ter)
NM_002294.2(LAMP2):c.138G>A (p.Trp46Ter)
NM_002294.2(LAMP2):c.156A>T (p.Val52=) rs12097
NM_002294.2(LAMP2):c.156_157delACinsTT (p.Arg53Cys) rs1556114013
NM_002294.2(LAMP2):c.157C>T (p.Arg53Cys) rs752321157
NM_002294.2(LAMP2):c.183+1G>A rs727503120
NM_002294.2(LAMP2):c.191delT (p.Val64Glufs) rs397516738
NM_002294.2(LAMP2):c.204C>G (p.Asp68Glu) rs376215728
NM_002294.2(LAMP2):c.217_218insA (p.Thr73Asnfs) rs397516739
NM_002294.2(LAMP2):c.23C>T (p.Pro8Leu) rs878854484
NM_002294.2(LAMP2):c.263T>C (p.Ile88Thr)
NM_002294.2(LAMP2):c.264A>T (p.Ile88=) rs779524035
NM_002294.2(LAMP2):c.276C>T (p.Phe92=) rs754577706
NM_002294.2(LAMP2):c.293G>A (p.Trp98Ter) rs397516740
NM_002294.2(LAMP2):c.339C>G (p.Ser113Arg) rs147369153
NM_002294.2(LAMP2):c.339C>T (p.Ser113=) rs147369153
NM_002294.2(LAMP2):c.385G>A (p.Ala129Thr) rs149276836
NM_002294.2(LAMP2):c.415_469dup (p.Ser157Terfs)
NM_002294.2(LAMP2):c.42C>T (p.Leu14=) rs727503122
NM_002294.2(LAMP2):c.443A>G (p.Asn148Ser)
NM_002294.2(LAMP2):c.463delA (p.Ser155Valfs) rs193922649
NM_002294.2(LAMP2):c.472A>G (p.Thr158Ala) rs138374063
NM_002294.2(LAMP2):c.504C>T (p.Tyr168=) rs150520869
NM_002294.2(LAMP2):c.517G>A (p.Val173Ile) rs141574558
NM_002294.2(LAMP2):c.519A>G (p.Val173=) rs1060504543
NM_002294.2(LAMP2):c.520C>T (p.Gln174Ter) rs104894857
NM_002294.2(LAMP2):c.566G>A (p.Cys189Tyr) rs750457485
NM_002294.2(LAMP2):c.581C>A (p.Thr194Asn)
NM_002294.2(LAMP2):c.586A>T (p.Thr196Ser) rs138991195
NM_002294.2(LAMP2):c.588_589insCAACA (p.Val197Glnfs) rs730880492
NM_002294.2(LAMP2):c.591G>A (p.Val197=) rs201030806
NM_002294.2(LAMP2):c.65-2A>G rs397516743
NM_002294.2(LAMP2):c.661G>A (p.Gly221Arg) rs145169006
NM_002294.2(LAMP2):c.696T>A (p.Cys232Ter) rs1556101523
NM_002294.2(LAMP2):c.697C>G (p.Leu233Val) rs772577020
NM_002294.2(LAMP2):c.73C>T (p.Arg25Trp) rs730880478
NM_002294.2(LAMP2):c.741+1G>A
NM_002294.2(LAMP2):c.742-10_742-8delTCT rs730880476
NM_002294.2(LAMP2):c.755T>G (p.Ile252Ser) rs141541387
NM_002294.2(LAMP2):c.773C>T (p.Thr258Ile) rs111703410
NM_002294.2(LAMP2):c.778C>T (p.His260Tyr) rs778577575
NM_002294.2(LAMP2):c.788delG (p.Gly263Alafs) rs1060502303
NM_002294.2(LAMP2):c.795C>A (p.Cys265Ter) rs730880483
NM_002294.2(LAMP2):c.815T>G (p.Leu272Arg)
NM_002294.2(LAMP2):c.824A>G (p.Asn275Ser) rs397516747
NM_002294.2(LAMP2):c.843T>G (p.Tyr281Ter)
NM_002294.2(LAMP2):c.851_852delTT (p.Phe284Cysfs) rs727504648
NM_002294.2(LAMP2):c.864+1G>T rs727503119
NM_002294.2(LAMP2):c.864+3_864+6delGAGT rs397516751
NM_002294.2(LAMP2):c.864+5G>C
NM_002294.2(LAMP2):c.865-1G>C rs397516752
NM_002294.2(LAMP2):c.865-8delT rs746330494
NM_002294.2(LAMP2):c.865-8dupT rs746330494
NM_002294.2(LAMP2):c.877C>T (p.Arg293Ter) rs727503118
NM_002294.2(LAMP2):c.912T>G (p.Tyr304Ter) rs876657648
NM_002294.2(LAMP2):c.927C>T (p.Ser309=) rs73219144
NM_002294.2(LAMP2):c.928G>A (p.Val310Ile) rs104894858
NM_002294.2(LAMP2):c.929-1G>A rs727504262
NM_002294.2(LAMP2):c.929-5T>C rs375341409
NM_002294.2(LAMP2):c.962G>A (p.Trp321Ter) rs1060502306
NM_002294.2(LAMP2):c.973dupC (p.Leu325Profs) rs1556092459
NM_002294.2(LAMP2):c.980G>T (p.Ser327Ile)
NM_002294.2(LAMP2):c.997A>G (p.Lys333Glu) rs1057515746
NM_002294.2(LAMP2):c.999delA (p.Glu334Serfs) rs727504557
NM_002294.2:c.(?_929)_(1233_?)del
NM_002294.2:c.190_191del
NM_013995.2(LAMP2):c.1189G>A (p.Val397Ile) rs730880488
NM_013995.2(LAMP2):c.1189G>T (p.Val397Leu)

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