ClinVar Miner

List of variants reported as likely benign for Danon disease

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 41
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HGVS dbSNP
NM_001122606.1(LAMP2):c.*192dup rs113549733
NM_001122606.1(LAMP2):c.1094-1005dup rs373005118
NM_001122606.1(LAMP2):c.1094-1080C>T rs141881232
NM_001122606.1(LAMP2):c.1094-1108A>G rs73612906
NM_001122606.1(LAMP2):c.1094-1383T>C rs5957381
NM_001122606.1(LAMP2):c.1094-1601T>C rs5957382
NM_001122606.1(LAMP2):c.1094-1626G>T rs2285548
NM_001122606.1(LAMP2):c.1094-2211A>G rs5957383
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.1094-302A>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.1094-535G>A rs767123866
NM_001122606.1(LAMP2):c.1094-549AT[9] rs753399289
NM_001122606.1(LAMP2):c.1143A>G (p.Ala381=) rs3827478
NM_002294.2(LAMP2):c.*3248G>A rs5957380
NM_002294.2(LAMP2):c.*3468_*3470delGTT rs199705754
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.*5038A>G rs2748
NM_002294.2(LAMP2):c.*5048A>T rs113285013
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.339C>T (p.Ser113=) rs147369153
NM_002294.2(LAMP2):c.42C>T (p.Leu14=) rs727503122
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.755T>G (p.Ile252Ser) rs141541387
NM_002294.2(LAMP2):c.927C>T (p.Ser309=) rs73219144
NM_013995.2(LAMP2):c.1135A>G (p.Ile379Val) rs140936359
NM_013995.2(LAMP2):c.1142T>C (p.Val381Ala) rs1301008847
NM_013995.2(LAMP2):c.1171G>A (p.Val391Ile) rs144140265
NM_013995.2(LAMP2):c.156A>T (p.Val52=) rs12097
NM_013995.2(LAMP2):c.156_157delinsTT (p.Arg53Cys) rs1556114013
NM_013995.2(LAMP2):c.591G>A (p.Val197=) rs201030806
NM_013995.2(LAMP2):c.661G>A (p.Gly221Arg) rs145169006
NM_013995.2(LAMP2):c.865-12dup rs746330494
NM_013995.2(LAMP2):c.865-8del rs746330494

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