ClinVar Miner

List of variants reported as uncertain significance for Danon disease by Illumina Laboratory Services, Illumina

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Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_002294.3(LAMP2):c.*586A>G rs41312757 0.00248
NM_002294.3(LAMP2):c.*4963del rs754879365 0.00097
NM_002294.3(LAMP2):c.*853G>A rs763861761 0.00088
NM_002294.3(LAMP2):c.*1413A>G rs773379092 0.00076
NM_002294.3(LAMP2):c.*3488C>T rs773236667 0.00074
NM_002294.3(LAMP2):c.*4757A>G rs767652057 0.00040
NM_002294.3(LAMP2):c.*4961A>G rs765371462 0.00039
NM_002294.3(LAMP2):c.*1632A>G rs755434692 0.00037
NM_002294.3(LAMP2):c.*5172A>G rs778592348 0.00024
NM_013995.2(LAMP2):c.-136C>G rs944875305 0.00020
NM_002294.3(LAMP2):c.*2476C>T rs776684734 0.00013
NM_002294.3(LAMP2):c.*975A>G rs1179268991 0.00011
NM_002294.3(LAMP2):c.*4763A>T rs761928368 0.00009
NM_002294.3(LAMP2):c.*1191A>T rs1004327482 0.00007
NM_002294.3(LAMP2):c.*4004C>T rs1001857275 0.00007
NM_002294.3(LAMP2):c.*4006G>T rs905784906 0.00007
NM_002294.3(LAMP2):c.*3689T>C rs975386272 0.00006
NM_002294.3(LAMP2):c.*721A>C rs887326511 0.00006
NM_002294.3(LAMP2):c.*1672C>T rs1024440041 0.00005
NM_002294.3(LAMP2):c.*2538A>C rs1057515739 0.00005
NM_013995.2(LAMP2):c.-154T>C rs999307628 0.00005
NM_002294.3(LAMP2):c.*4664A>G rs894257602 0.00004
NM_002294.3(LAMP2):c.*2147T>C rs1314194515 0.00003
NM_002294.3(LAMP2):c.*4858A>G rs943561186 0.00003
NM_002294.3(LAMP2):c.601A>G (p.Ile201Val) rs1362738445 0.00003
NM_002294.3(LAMP2):c.*3263T>C rs1164559557 0.00002
NM_002294.3(LAMP2):c.1160G>C (p.Gly387Ala) rs2058522449 0.00002
NM_002294.3(LAMP2):c.*238G>A rs2058520973 0.00001
NM_002294.3(LAMP2):c.*3276C>T rs1043524915 0.00001
NM_002294.3(LAMP2):c.*2148AT[8] rs753399289
NM_002294.3(LAMP2):c.*2736T>A rs1057515738
NM_002294.3(LAMP2):c.*2955A>G rs1275264834
NM_002294.3(LAMP2):c.*3347GTTA[1] rs764018077
NM_002294.3(LAMP2):c.*3413T>C rs1180263874
NM_002294.3(LAMP2):c.*3563T>G rs2058504321
NM_002294.3(LAMP2):c.*3677C>A rs1057515737
NM_002294.3(LAMP2):c.*653A>G rs1057515744
NM_002294.3(LAMP2):c.*692G>A rs1057515743
NM_002294.3(LAMP2):c.-103G>C rs1057515747
NM_002294.3(LAMP2):c.1048C>G (p.Leu350Val) rs1057515745
NM_002294.3(LAMP2):c.629C>A (p.Thr210Lys) rs2058604992
NM_002294.3(LAMP2):c.997A>G (p.Lys333Glu) rs1057515746
NM_013995.2(LAMP2):c.-168dup rs760941179

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