ClinVar Miner

List of variants reported as likely benign for Danon disease

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Total variants: 153
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HGVS dbSNP gnomAD frequency
NM_002294.3(LAMP2):c.927C>T (p.Ser309=) rs73219144 0.02702
NM_002294.3(LAMP2):c.1093+2514G>A rs144140265 0.00404
NM_002294.3(LAMP2):c.661G>A (p.Gly221Arg) rs145169006 0.00193
NM_002294.3(LAMP2):c.755T>G (p.Ile252Ser) rs141541387 0.00119
NM_002294.3(LAMP2):c.339C>T (p.Ser113=) rs147369153 0.00066
NM_002294.3(LAMP2):c.1093+2478A>G rs140936359 0.00014
NM_002294.3(LAMP2):c.591G>A (p.Val197=) rs201030806 0.00014
NM_002294.3(LAMP2):c.1093+2485T>C rs1301008847 0.00012
NM_002294.3(LAMP2):c.42C>T (p.Leu14=) rs727503122 0.00009
NM_002294.3(LAMP2):c.264A>T (p.Ile88=) rs779524035 0.00005
NM_002294.3(LAMP2):c.32G>T (p.Gly11Val) rs3180515 0.00005
NM_002294.3(LAMP2):c.771T>C (p.Asn257=) rs138435481 0.00005
NM_002294.3(LAMP2):c.1091C>T (p.Thr364Ile) rs183781327 0.00004
NM_002294.3(LAMP2):c.1093+9C>T rs371259269 0.00004
NM_002294.3(LAMP2):c.1137A>G (p.Ile379Met) rs730880126 0.00004
NM_002294.3(LAMP2):c.299C>T (p.Ala100Val) rs397516741 0.00004
NM_002294.3(LAMP2):c.517G>A (p.Val173Ile) rs141574558 0.00004
NM_002294.3(LAMP2):c.65-13T>A rs727503121 0.00004
NM_002294.3(LAMP2):c.1000G>C (p.Glu334Gln) rs766962315 0.00003
NM_002294.3(LAMP2):c.1083G>A (p.Lys361=) rs1334549485 0.00003
NM_002294.3(LAMP2):c.276C>T (p.Phe92=) rs754577706 0.00003
NM_002294.3(LAMP2):c.472A>G (p.Thr158Ala) rs138374063 0.00003
NM_002294.3(LAMP2):c.519A>G (p.Val173=) rs1060504543 0.00003
NM_002294.3(LAMP2):c.64+20C>G rs1346805727 0.00003
NM_002294.3(LAMP2):c.640C>A (p.Pro214Thr) rs776101722 0.00003
NM_002294.3(LAMP2):c.65-20A>T rs773064698 0.00003
NM_002294.3(LAMP2):c.1094-10C>T rs1278507301 0.00002
NM_002294.3(LAMP2):c.1116C>T (p.Asp372=) rs749338632 0.00002
NM_002294.3(LAMP2):c.184-19A>G rs1255756648 0.00002
NM_002294.3(LAMP2):c.232A>G (p.Ile78Val) rs748676358 0.00002
NM_002294.3(LAMP2):c.453T>C (p.Phe151=) rs200348335 0.00002
NM_002294.3(LAMP2):c.778C>T (p.His260Tyr) rs778577575 0.00002
NM_002294.3(LAMP2):c.929-9T>C rs978513368 0.00002
NM_002294.3(LAMP2):c.960C>T (p.Tyr320=) rs371959861 0.00002
NM_002294.3(LAMP2):c.1068T>C (p.Asn356=) rs769643748 0.00001
NM_002294.3(LAMP2):c.1080A>G (p.Gly360=) rs1476303419 0.00001
NM_002294.3(LAMP2):c.1139C>T (p.Ala380Val) rs747301460 0.00001
NM_002294.3(LAMP2):c.1140G>A (p.Ala380=) rs1029569080 0.00001
NM_002294.3(LAMP2):c.183+9A>G rs753577843 0.00001
NM_002294.3(LAMP2):c.30G>A (p.Pro10=) rs11540224 0.00001
NM_002294.3(LAMP2):c.397+8T>A rs1257675921 0.00001
NM_002294.3(LAMP2):c.415G>A (p.Glu139Lys) rs373007615 0.00001
NM_002294.3(LAMP2):c.461A>G (p.Asn154Ser) rs773525538 0.00001
NM_002294.3(LAMP2):c.462T>C (p.Asn154=) rs772164739 0.00001
NM_002294.3(LAMP2):c.556+13T>A rs1380200946 0.00001
NM_002294.3(LAMP2):c.556+17T>G rs1056255642 0.00001
NM_002294.3(LAMP2):c.556+20C>G rs1253220845 0.00001
NM_002294.3(LAMP2):c.741+10T>C rs1339351790 0.00001
NM_002294.3(LAMP2):c.768C>T (p.Pro256=) rs772901542 0.00001
NM_002294.3(LAMP2):c.885T>C (p.Tyr295=) rs771546093 0.00001
NM_002294.3(LAMP2):c.959A>G (p.Tyr320Cys) rs1292531971 0.00001
NM_002294.3(LAMP2):c.972C>G (p.Pro324=) rs1229203142 0.00001
NM_002294.3(LAMP2):c.*1701dup rs373005118
NM_002294.3(LAMP2):c.*2148AT[9] rs753399289
NM_002294.3(LAMP2):c.*3031dup rs113549733
NM_002294.3(LAMP2):c.*3459GTT[3] rs199705754
NM_002294.3(LAMP2):c.1002G>A (p.Glu334=)
NM_002294.3(LAMP2):c.1093+10A>G
NM_002294.3(LAMP2):c.1093+11A>G
NM_002294.3(LAMP2):c.1093+14A>T rs2147278803
NM_002294.3(LAMP2):c.1093+2469C>A rs770877964
NM_002294.3(LAMP2):c.1093+2524T>C rs1602530731
NM_002294.3(LAMP2):c.1093+7A>G
NM_002294.3(LAMP2):c.1093+9C>G rs371259269
NM_002294.3(LAMP2):c.1094-19G>A
NM_002294.3(LAMP2):c.1094-19G>T rs1353282320
NM_002294.3(LAMP2):c.1094-9C>T rs2147273257
NM_002294.3(LAMP2):c.1114GAC[1] (p.Asp373del) rs730880494
NM_002294.3(LAMP2):c.1134C>T (p.Pro378=) rs2147273218
NM_002294.3(LAMP2):c.1140G>T (p.Ala380=) rs1029569080
NM_002294.3(LAMP2):c.1143G>A (p.Val381=) rs2147273199
NM_002294.3(LAMP2):c.1152C>T (p.Ala384=) rs2147273194
NM_002294.3(LAMP2):c.120T>C (p.Thr40=)
NM_002294.3(LAMP2):c.1224G>A (p.Glu408=)
NM_002294.3(LAMP2):c.141G>A (p.Gln47=)
NM_002294.3(LAMP2):c.150C>T (p.Phe50=) rs1057521701
NM_002294.3(LAMP2):c.156_157delinsTT (p.Arg53Cys) rs1556114013
NM_002294.3(LAMP2):c.183+17A>G rs1052902953
NM_002294.3(LAMP2):c.183+8T>C rs997912625
NM_002294.3(LAMP2):c.184-11A>G rs2147286997
NM_002294.3(LAMP2):c.184-9T>G rs774218764
NM_002294.3(LAMP2):c.204C>T (p.Asp68=) rs376215728
NM_002294.3(LAMP2):c.207T>C (p.His69=)
NM_002294.3(LAMP2):c.212C>G (p.Thr71Ser)
NM_002294.3(LAMP2):c.219A>G (p.Thr73=) rs1921054102
NM_002294.3(LAMP2):c.261A>G (p.Lys87=)
NM_002294.3(LAMP2):c.300G>C (p.Ala100=) rs765548221
NM_002294.3(LAMP2):c.300G>T (p.Ala100=) rs765548221
NM_002294.3(LAMP2):c.30G>C (p.Pro10=)
NM_002294.3(LAMP2):c.327T>C (p.Tyr109=) rs1397410765
NM_002294.3(LAMP2):c.333T>C (p.Ile111=) rs397516742
NM_002294.3(LAMP2):c.354C>T (p.Tyr118=) rs1602539967
NM_002294.3(LAMP2):c.370ACA[1] (p.Thr125del) rs760602347
NM_002294.3(LAMP2):c.372A>G (p.Thr124=)
NM_002294.3(LAMP2):c.387T>C (p.Ala129=)
NM_002294.3(LAMP2):c.393T>C (p.Asp131=)
NM_002294.3(LAMP2):c.397+16del
NM_002294.3(LAMP2):c.397+19T>C
NM_002294.3(LAMP2):c.398-14A>G
NM_002294.3(LAMP2):c.426C>T (p.Ala142=) rs2147283103
NM_002294.3(LAMP2):c.429C>T (p.Ile143=) rs1602536478
NM_002294.3(LAMP2):c.42C>G (p.Leu14=) rs727503122
NM_002294.3(LAMP2):c.450T>C (p.Leu150=) rs2147283088
NM_002294.3(LAMP2):c.45T>A (p.Val15=)
NM_002294.3(LAMP2):c.465T>C (p.Ser155=)
NM_002294.3(LAMP2):c.533A>G (p.Gln178Arg) rs775432228
NM_002294.3(LAMP2):c.546G>T (p.Val182=) rs2147282968
NM_002294.3(LAMP2):c.556+10G>A
NM_002294.3(LAMP2):c.557-10C>G
NM_002294.3(LAMP2):c.557-11G>A
NM_002294.3(LAMP2):c.557-20T>A rs2147282562
NM_002294.3(LAMP2):c.562C>T (p.Leu188=)
NM_002294.3(LAMP2):c.576C>T (p.Asp192=) rs1569369724
NM_002294.3(LAMP2):c.579A>G (p.Lys193=)
NM_002294.3(LAMP2):c.582T>C (p.Thr194=) rs1602535931
NM_002294.3(LAMP2):c.600C>T (p.Thr200=) rs2147282502
NM_002294.3(LAMP2):c.609C>A (p.Thr203=) rs1602535881
NM_002294.3(LAMP2):c.636T>C (p.Pro212=)
NM_002294.3(LAMP2):c.64+15C>A
NM_002294.3(LAMP2):c.64+20C>T
NM_002294.3(LAMP2):c.65-20_65-18del
NM_002294.3(LAMP2):c.65-6A>T
NM_002294.3(LAMP2):c.697C>T (p.Leu233=)
NM_002294.3(LAMP2):c.6G>A (p.Val2=) rs2147294923
NM_002294.3(LAMP2):c.741+10_741+11insTT
NM_002294.3(LAMP2):c.741+13A>G
NM_002294.3(LAMP2):c.741+7G>T rs2147282351
NM_002294.3(LAMP2):c.742-11T>C
NM_002294.3(LAMP2):c.742-7_742-5del rs779710402
NM_002294.3(LAMP2):c.742-8T>C
NM_002294.3(LAMP2):c.786A>G (p.Thr262=)
NM_002294.3(LAMP2):c.807T>C (p.Thr269=) rs1211870519
NM_002294.3(LAMP2):c.864+18T>C rs2147281341
NM_002294.3(LAMP2):c.864+7A>G
NM_002294.3(LAMP2):c.864+8A>T rs923254412
NM_002294.3(LAMP2):c.865-12dup rs746330494
NM_002294.3(LAMP2):c.865-18A>T
NM_002294.3(LAMP2):c.865-4del rs781417368
NM_002294.3(LAMP2):c.865-8T>C rs2147279553
NM_002294.3(LAMP2):c.865-8del rs746330494
NM_002294.3(LAMP2):c.876C>T (p.Asn292=)
NM_002294.3(LAMP2):c.907A>T (p.Met303Leu)
NM_002294.3(LAMP2):c.90A>G (p.Glu30=) rs1602540965
NM_002294.3(LAMP2):c.928+11C>T
NM_002294.3(LAMP2):c.928+18C>T
NM_002294.3(LAMP2):c.928+8A>T
NM_002294.3(LAMP2):c.929-12T>C rs2147278991
NM_002294.3(LAMP2):c.929-13C>G
NM_002294.3(LAMP2):c.929-4G>C
NM_002294.3(LAMP2):c.966T>C (p.Asp322=) rs2147278937
NM_002294.3(LAMP2):c.969C>A (p.Ala323=) rs1602532246
NM_002294.3(LAMP2):c.987T>C (p.Tyr329=)
NM_002294.3(LAMP2):c.9C>T (p.Cys3=)

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