ClinVar Miner

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

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 37
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HGVS dbSNP
NM_001122606.1(LAMP2):c.*2124del rs754879365
NM_001122606.1(LAMP2):c.1094-1025C>T rs1024440041
NM_001122606.1(LAMP2):c.1094-1065A>G rs755434692
NM_001122606.1(LAMP2):c.1094-1341C>G rs188897063
NM_001122606.1(LAMP2):c.1094-1506A>T rs1004327482
NM_001122606.1(LAMP2):c.1094-159A>C rs1057515739
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.1094-2220T>C rs750939378
NM_001122606.1(LAMP2):c.1094-2664A>G rs745798436
NM_001122606.1(LAMP2):c.1094-514T>C rs765214315
NM_001122606.1(LAMP2):c.1094-549A>G rs756504749
NM_001122606.1(LAMP2):c.1094-549AT[8] 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.*3249T>C rs41300908
NM_002294.2(LAMP2):c.*3351_*3354delGTTA rs764018077
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.*4763A>T rs761928368
NM_002294.2(LAMP2):c.*4858A>G rs943561186
NM_002294.2(LAMP2):c.*4961A>G rs765371462
NM_002294.2(LAMP2):c.*5172A>G rs778592348
NM_002294.2(LAMP2):c.-103G>C rs1057515747
NM_002294.2(LAMP2):c.-154T>C rs999307628
NM_002294.2(LAMP2):c.-4G>C rs200297370
NM_002294.2(LAMP2):c.1048C>G (p.Leu350Val) rs1057515745
NM_002294.2(LAMP2):c.157C>T (p.Arg53Cys) rs752321157
NM_002294.2(LAMP2):c.339C>T (p.Ser113=) rs147369153
NM_002294.2(LAMP2):c.997A>G (p.Lys333Glu) rs1057515746
NM_013995.2(LAMP2):c.-168dup rs760941179
NM_013995.2(LAMP2):c.591G>A (p.Val197=) rs201030806

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