ClinVar Miner

List of variants reported as pathogenic for Leukoencephalopathy with calcifications and cysts by Laboratory of Neurogenetics and Neuroinflammation, Institut Imagine

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Total variants: 44
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HGVS dbSNP gnomAD frequency
NM_183065.4(TMEM107):c.*759C>T rs201787275 0.00162
NR_033294.2(SNORD118):n.24C>T rs368022715 0.00032
NR_033294.2(SNORD118):n.64G>A rs372252345 0.00025
NR_033294.2(SNORD118):n.72A>G rs201558321 0.00006
NR_033294.2(SNORD118):n.57G>A rs886039784 0.00004
NR_033294.2(SNORD118):n.74G>A rs372721948 0.00004
NR_033294.2(SNORD118):n.60_61insT rs757706428 0.00003
NR_033294.2(SNORD118):n.75A>G rs1400162090 0.00002
NR_033294.2(SNORD118):n.56dup rs775673578 0.00001
NR_033294.2(SNORD118):n.61A>G rs750457525 0.00001
NC_000017.11:g.8076886_8076914dup rs1977096738
NC_000017.11:g.8076912C>T rs1167153704
NC_000017.11:g.8076955_8076960del rs1977098048
NC_000017.11:g.8173378_8173659del rs1983743862
NC_000017.11:g.8173448G>C rs75008470
NM_183065.4(TMEM107):c.*751C>T rs117595965
NM_183065.4(TMEM107):c.*760G>T rs116395281
NR_033294.2(SNORD118):n.100T>G rs757122064
NR_033294.2(SNORD118):n.103G>A rs562912181
NR_033294.2(SNORD118):n.104G>A rs201686383
NR_033294.2(SNORD118):n.126C>T rs144429028
NR_033294.2(SNORD118):n.127C>G rs374135155
NR_033294.2(SNORD118):n.130T>C rs754582308
NR_033294.2(SNORD118):n.131C>A rs746503581
NR_033294.2(SNORD118):n.131C>G rs746503581
NR_033294.2(SNORD118):n.20C>T rs545394298
NR_033294.2(SNORD118):n.2T>C rs368446612
NR_033294.2(SNORD118):n.39G>C rs200458465
NR_033294.2(SNORD118):n.39G>T rs200458465
NR_033294.2(SNORD118):n.3C>A rs117735243
NR_033294.2(SNORD118):n.3C>T rs117735243
NR_033294.2(SNORD118):n.42G>A rs148909909
NR_033294.2(SNORD118):n.57G>T rs886039784
NR_033294.2(SNORD118):n.58A>G rs755495846
NR_033294.2(SNORD118):n.58dup rs1983820983
NR_033294.2(SNORD118):n.59T>G rs752108301
NR_033294.2(SNORD118):n.60G>C rs780396107
NR_033294.2(SNORD118):n.73T>G rs754874209
NR_033294.2(SNORD118):n.75A>C rs1400162090
NR_033294.2(SNORD118):n.81G>A rs772667974
NR_033294.2(SNORD118):n.81G>C rs772667974
NR_033294.2(SNORD118):n.82A>G rs779456932
NR_033294.2(SNORD118):n.8G>A rs201266955
NR_033294.2(SNORD118):n.8G>C rs201266955

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