ClinVar Miner

List of variants studied for Danon disease

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 238
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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.(?_120431313)_(120469179_?)dup
NC_000023.11:g.(?_120431313)_(120470223_?)del
NC_000023.11:g.(?_120441710)_(120449148_?)del
NM_001122606.1(LAMP2):c.*1723A>G rs142200759
NM_001122606.1(LAMP2):c.*1740A>G rs42885
NM_001122606.1(LAMP2):c.*1832C>T rs1045953
NM_001122606.1(LAMP2):c.*1924A>T rs761928368
NM_001122606.1(LAMP2):c.*192dup rs113549733
NM_001122606.1(LAMP2):c.*2019A>G rs943561186
NM_001122606.1(LAMP2):c.*2122A>G rs765371462
NM_001122606.1(LAMP2):c.*2124del rs754879365
NM_001122606.1(LAMP2):c.*2199A>G rs2748
NM_001122606.1(LAMP2):c.*2209A>T rs113285013
NM_001122606.1(LAMP2):c.*2333A>G rs778592348
NM_001122606.1(LAMP2):c.*409G>A rs5957380
NM_001122606.1(LAMP2):c.*410T>C rs41300908
NM_001122606.1(LAMP2):c.*508_*511GTTA[1] rs764018077
NM_001122606.1(LAMP2):c.*620_*622GTT[3] rs199705754
NM_001122606.1(LAMP2):c.*838C>A rs1057515737
NM_001122606.1(LAMP2):c.*848T>C rs185627568
NM_001122606.1(LAMP2):c.*850T>C rs975386272
NM_001122606.1(LAMP2):c.1094-1005dup rs373005118
NM_001122606.1(LAMP2):c.1094-1025C>T rs1024440041
NM_001122606.1(LAMP2):c.1094-1065A>G rs755434692
NM_001122606.1(LAMP2):c.1094-1080C>T rs141881232
NM_001122606.1(LAMP2):c.1094-1108A>G rs73612906
NM_001122606.1(LAMP2):c.1094-1341C>G rs188897063
NM_001122606.1(LAMP2):c.1094-1383T>C rs5957381
NM_001122606.1(LAMP2):c.1094-1506A>T rs1004327482
NM_001122606.1(LAMP2):c.1094-159A>C rs1057515739
NM_001122606.1(LAMP2):c.1094-1601T>C rs5957382
NM_001122606.1(LAMP2):c.1094-1626G>T rs2285548
NM_001122606.1(LAMP2):c.1094-173T>C rs150119198
NM_001122606.1(LAMP2):c.1094-1844G>A rs763861761
NM_001122606.1(LAMP2):c.1094-1976A>C rs887326511
NM_001122606.1(LAMP2):c.1094-2005G>A rs1057515743
NM_001122606.1(LAMP2):c.1094-2044A>G rs1057515744
NM_001122606.1(LAMP2):c.1094-2111A>G rs41312757
NM_001122606.1(LAMP2):c.1094-2211A>G rs5957383
NM_001122606.1(LAMP2):c.1094-2220T>C rs750939378
NM_001122606.1(LAMP2):c.1094-237A>G rs10127182
NM_001122606.1(LAMP2):c.1094-2400A>C rs8160
NM_001122606.1(LAMP2):c.1094-2492C>T rs41300191
NM_001122606.1(LAMP2):c.1094-2664A>G rs745798436
NM_001122606.1(LAMP2):c.1094-2717G>A rs1556078130
NM_001122606.1(LAMP2):c.1094-2739T>C rs752231323
NM_001122606.1(LAMP2):c.1094-2790G>A rs1029569080
NM_001122606.1(LAMP2):c.1094-2804C>A rs1006753991
NM_001122606.1(LAMP2):c.1094-302A>G rs10127185
NM_001122606.1(LAMP2):c.1094-436A>G rs12395643
NM_001122606.1(LAMP2):c.1094-502T>C rs13441024
NM_001122606.1(LAMP2):c.1094-514T>C rs765214315
NM_001122606.1(LAMP2):c.1094-535G>A rs767123866
NM_001122606.1(LAMP2):c.1094-549A>G rs756504749
NM_001122606.1(LAMP2):c.1094-549AT[8] rs753399289
NM_001122606.1(LAMP2):c.1094-549AT[9] rs753399289
NM_001122606.1(LAMP2):c.1094-692C>G rs200014321
NM_001122606.1(LAMP2):c.1133T>A (p.Ile378Asn) rs1057515738
NM_002294.2(LAMP2):c.(?_398)-60_(741_?)+68del
NM_002294.2(LAMP2):c.(?_929)_(1233_?)del
NM_002294.3(LAMP2):c.*1243A>G
NM_002294.3(LAMP2):c.*1413A>G
NM_002294.3(LAMP2):c.*2147T>C
NM_002294.3(LAMP2):c.*238G>A
NM_002294.3(LAMP2):c.*2476C>T
NM_002294.3(LAMP2):c.*2518A>G
NM_002294.3(LAMP2):c.*2575G>C
NM_002294.3(LAMP2):c.*2746A>G rs3827478
NM_002294.3(LAMP2):c.*2794T>C
NM_002294.3(LAMP2):c.*2955A>G
NM_002294.3(LAMP2):c.*3263T>C
NM_002294.3(LAMP2):c.*3276C>T
NM_002294.3(LAMP2):c.*3413T>C
NM_002294.3(LAMP2):c.*3452T>C
NM_002294.3(LAMP2):c.*3459G>T
NM_002294.3(LAMP2):c.*3488C>T
NM_002294.3(LAMP2):c.*3494A>G
NM_002294.3(LAMP2):c.*3563T>G
NM_002294.3(LAMP2):c.*3583A>G
NM_002294.3(LAMP2):c.*4004C>T
NM_002294.3(LAMP2):c.*4006G>T
NM_002294.3(LAMP2):c.*4664A>G
NM_002294.3(LAMP2):c.*4757A>G
NM_002294.3(LAMP2):c.*975A>G
NM_002294.3(LAMP2):c.-32_-24GTCGCCGCC[1] rs193922648
NM_002294.3(LAMP2):c.-4G>C rs200297370
NM_002294.3(LAMP2):c.1037del (p.Asn346fs)
NM_002294.3(LAMP2):c.1078G>A (p.Gly360Arg)
NM_002294.3(LAMP2):c.1093+1G>A rs727504742
NM_002294.3(LAMP2):c.1093+2450G>A rs149783672
NM_002294.3(LAMP2):c.1093+2514G>A rs144140265
NM_002294.3(LAMP2):c.1093+9C>T rs371259269
NM_002294.3(LAMP2):c.1094-1G>C
NM_002294.3(LAMP2):c.1116C>T (p.Asp372=) rs749338632
NM_002294.3(LAMP2):c.1123T>C (p.Phe375Leu)
NM_002294.3(LAMP2):c.1127T>C (p.Leu376Pro)
NM_002294.3(LAMP2):c.1142T>C (p.Val381Ala) rs139633545
NM_002294.3(LAMP2):c.1160G>C (p.Gly387Ala)
NM_002294.3(LAMP2):c.156A>T (p.Val52=) rs12097
NM_002294.3(LAMP2):c.183+1G>A rs727503120
NM_002294.3(LAMP2):c.184-9T>G rs774218764
NM_002294.3(LAMP2):c.205C>T (p.His69Tyr)
NM_002294.3(LAMP2):c.235_243delinsGTGG (p.Cys79fs)
NM_002294.3(LAMP2):c.276C>T (p.Phe92=) rs754577706
NM_002294.3(LAMP2):c.286T>C (p.Phe96Leu)
NM_002294.3(LAMP2):c.293G>A (p.Trp98Ter) rs397516740
NM_002294.3(LAMP2):c.294G>A (p.Trp98Ter) rs876657696
NM_002294.3(LAMP2):c.32G>T (p.Gly11Val) rs3180515
NM_002294.3(LAMP2):c.339C>T (p.Ser113=) rs147369153
NM_002294.3(LAMP2):c.34dup (p.Ser12fs)
NM_002294.3(LAMP2):c.380C>T (p.Pro127Leu)
NM_002294.3(LAMP2):c.424G>C (p.Ala142Pro)
NM_002294.3(LAMP2):c.42C>T (p.Leu14=) rs727503122
NM_002294.3(LAMP2):c.453T>C (p.Phe151=) rs200348335
NM_002294.3(LAMP2):c.467T>C (p.Leu156Ser)
NM_002294.3(LAMP2):c.472A>G (p.Thr158Ala) rs138374063
NM_002294.3(LAMP2):c.517G>A (p.Val173Ile) rs141574558
NM_002294.3(LAMP2):c.520C>A (p.Gln174Lys)
NM_002294.3(LAMP2):c.571A>G (p.Lys191Glu)
NM_002294.3(LAMP2):c.586A>T (p.Thr196Ser) rs138991195
NM_002294.3(LAMP2):c.591G>A (p.Val197=) rs201030806
NM_002294.3(LAMP2):c.59T>G (p.Val20Gly)
NM_002294.3(LAMP2):c.629C>A (p.Thr210Lys)
NM_002294.3(LAMP2):c.64+1G>C
NM_002294.3(LAMP2):c.643A>G (p.Lys215Glu)
NM_002294.3(LAMP2):c.65-2A>G rs397516743
NM_002294.3(LAMP2):c.65-6A>G
NM_002294.3(LAMP2):c.661G>A (p.Gly221Arg) rs145169006
NM_002294.3(LAMP2):c.704C>T (p.Ala235Val)
NM_002294.3(LAMP2):c.731C>G (p.Thr244Ser)
NM_002294.3(LAMP2):c.733C>G (p.Gln245Glu)
NM_002294.3(LAMP2):c.741+11C>T rs149155417
NM_002294.3(LAMP2):c.742-16TCT[2] rs730880476
NM_002294.3(LAMP2):c.742-7_742-5del rs779710402
NM_002294.3(LAMP2):c.745G>A (p.Ala249Thr)
NM_002294.3(LAMP2):c.755T>G (p.Ile252Ser) rs141541387
NM_002294.3(LAMP2):c.763_768delinsTGAAGT (p.Asn255_Pro256delinsTer)
NM_002294.3(LAMP2):c.80A>G (p.Tyr27Cys)
NM_002294.3(LAMP2):c.815T>C (p.Leu272Pro)
NM_002294.3(LAMP2):c.824A>G (p.Asn275Ser) rs397516747
NM_002294.3(LAMP2):c.842A>G (p.Tyr281Cys) rs397516748
NM_002294.3(LAMP2):c.864+1G>T rs727503119
NM_002294.3(LAMP2):c.865-8del rs746330494
NM_002294.3(LAMP2):c.877C>T (p.Arg293Ter) rs727503118
NM_002294.3(LAMP2):c.912T>G (p.Tyr304Ter) rs876657648
NM_002294.3(LAMP2):c.927C>T (p.Ser309=) rs73219144
NM_002294.3(LAMP2):c.928+6C>T
NM_002294.3(LAMP2):c.928G>A (p.Val310Ile) rs104894858
NM_002294.3(LAMP2):c.928G>T (p.Val310Phe)
NM_002294.3(LAMP2):c.929-1G>A rs727504262
NM_002294.3(LAMP2):c.958T>A (p.Tyr320Asn)
NM_002294.3(LAMP2):c.960C>T (p.Tyr320=) rs371959861
NM_013995.2(LAMP2):c.-103G>C rs1057515747
NM_013995.2(LAMP2):c.-136C>G
NM_013995.2(LAMP2):c.-154T>C rs999307628
NM_013995.2(LAMP2):c.-168dup rs760941179
NM_013995.2(LAMP2):c.-26_-15dup rs1556124241
NM_013995.2(LAMP2):c.-33C>T rs368403767
NM_013995.2(LAMP2):c.1000G>C (p.Glu334Gln) rs766962315
NM_013995.2(LAMP2):c.1013C>G (p.Ser338Ter) rs1060502305
NM_013995.2(LAMP2):c.1015G>C (p.Val339Leu) rs1602532154
NM_013995.2(LAMP2):c.1020del (p.Gly341fs) rs727504597
NM_013995.2(LAMP2):c.1048C>G (p.Leu350Val) rs1057515745
NM_013995.2(LAMP2):c.1069G>A (p.Val357Met) rs886038907
NM_013995.2(LAMP2):c.1091C>T (p.Thr364Ile) rs183781327
NM_013995.2(LAMP2):c.1142T>C (p.Val381Ala) rs1301008847
NM_013995.2(LAMP2):c.1189G>A (p.Val397Ile) rs730880488
NM_013995.2(LAMP2):c.1189G>T (p.Val397Leu) rs730880488
NM_013995.2(LAMP2):c.1201A>G (p.Arg401Gly) rs777128122
NM_013995.2(LAMP2):c.121del (p.Cys41fs) rs727504600
NM_013995.2(LAMP2):c.128_129dup (p.Ala44fs) rs730880344
NM_013995.2(LAMP2):c.137G>A (p.Trp46Ter) rs1569371591
NM_013995.2(LAMP2):c.138G>A (p.Trp46Ter) rs1271031981
NM_013995.2(LAMP2):c.14del (p.Arg5fs) rs1183994410
NM_013995.2(LAMP2):c.150C>T (p.Phe50=) rs1057521701
NM_013995.2(LAMP2):c.156_157delinsTT (p.Arg53Cys) rs1556114013
NM_013995.2(LAMP2):c.157C>T (p.Arg53Cys) rs752321157
NM_013995.2(LAMP2):c.188C>T (p.Thr63Ile) rs1358581771
NM_013995.2(LAMP2):c.190_191del (p.Val64fs) rs1569371330
NM_013995.2(LAMP2):c.204C>G (p.Asp68Glu) rs376215728
NM_013995.2(LAMP2):c.205_218del (p.His69fs) rs1602540152
NM_013995.2(LAMP2):c.232A>G (p.Ile78Val) rs748676358
NM_013995.2(LAMP2):c.23C>T (p.Pro8Leu) rs878854484
NM_013995.2(LAMP2):c.260A>C (p.Lys87Thr) rs1556112678
NM_013995.2(LAMP2):c.263T>C (p.Ile88Thr) rs1569371283
NM_013995.2(LAMP2):c.29C>T (p.Pro10Leu) rs769378984
NM_013995.2(LAMP2):c.30G>A (p.Pro10=) rs11540224
NM_013995.2(LAMP2):c.339C>G (p.Ser113Arg) rs147369153
NM_013995.2(LAMP2):c.36_42del (p.Gly13fs) rs1436181133
NM_013995.2(LAMP2):c.385G>A (p.Ala129Thr) rs149276836
NM_013995.2(LAMP2):c.415_469dup (p.Ser157Ter) rs1569369940
NM_013995.2(LAMP2):c.416A>T (p.Glu139Val) rs1602536486
NM_013995.2(LAMP2):c.440T>A (p.Leu147Ter) rs137852527
NM_013995.2(LAMP2):c.443A>G (p.Asn148Ser) rs766491800
NM_013995.2(LAMP2):c.463del (p.Ser155fs) rs193922649
NM_013995.2(LAMP2):c.504C>T (p.Tyr168=) rs150520869
NM_013995.2(LAMP2):c.515T>C (p.Leu172Pro) rs371174243
NM_013995.2(LAMP2):c.519A>G (p.Val173=) rs1060504543
NM_013995.2(LAMP2):c.520C>T (p.Gln174Ter) rs104894857
NM_013995.2(LAMP2):c.546_548delinsTA (p.Ser183fs) rs1060502302
NM_013995.2(LAMP2):c.566G>A (p.Cys189Tyr) rs750457485
NM_013995.2(LAMP2):c.581C>A (p.Thr194Asn) rs1033442580
NM_013995.2(LAMP2):c.584_588dup (p.Val197fs) rs730880492
NM_013995.2(LAMP2):c.601A>G (p.Ile201Val) rs1362738445
NM_013995.2(LAMP2):c.617C>T (p.Pro206Leu) rs1602535864
NM_013995.2(LAMP2):c.640C>A (p.Pro214Thr) rs776101722
NM_013995.2(LAMP2):c.65-1G>C rs730880496
NM_013995.2(LAMP2):c.696T>A (p.Cys232Ter) rs1556101523
NM_013995.2(LAMP2):c.697C>G (p.Leu233Val) rs772577020
NM_013995.2(LAMP2):c.737A>G (p.Asp246Gly) rs730880482
NM_013995.2(LAMP2):c.73C>T (p.Arg25Trp) rs730880478
NM_013995.2(LAMP2):c.741+1G>A rs1251075016
NM_013995.2(LAMP2):c.74G>A (p.Arg25Gln) rs750118236
NM_013995.2(LAMP2):c.773C>T (p.Thr258Ile) rs111703410
NM_013995.2(LAMP2):c.778C>T (p.His260Tyr) rs778577575
NM_013995.2(LAMP2):c.788del (p.Gly263fs) rs1060502303
NM_013995.2(LAMP2):c.795C>A (p.Cys265Ter) rs730880483
NM_013995.2(LAMP2):c.797G>A (p.Arg266His) rs200934351
NM_013995.2(LAMP2):c.815T>G (p.Leu272Arg) rs1569369217
NM_013995.2(LAMP2):c.843T>G (p.Tyr281Ter) rs1569369194
NM_013995.2(LAMP2):c.851_852del (p.Phe284fs) rs727504648
NM_013995.2(LAMP2):c.864+3_864+6del rs397516751
NM_013995.2(LAMP2):c.864+5G>C rs1352584474
NM_013995.2(LAMP2):c.883dup (p.Tyr295fs) rs1327363415
NM_013995.2(LAMP2):c.887T>G (p.Leu296Arg) rs730880486
NM_013995.2(LAMP2):c.907A>G (p.Met303Val) rs768369360
NM_013995.2(LAMP2):c.928+4A>G rs1602532732
NM_013995.2(LAMP2):c.929-5T>C rs375341409
NM_013995.2(LAMP2):c.961T>C (p.Trp321Arg) rs104894859
NM_013995.2(LAMP2):c.962G>A (p.Trp321Ter) rs1060502306
NM_013995.2(LAMP2):c.973dup (p.Leu325fs) rs1556092459
NM_013995.2(LAMP2):c.980G>T (p.Ser327Ile) rs960241982
NM_013995.2(LAMP2):c.997A>G (p.Lys333Glu) rs1057515746

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