ClinVar Miner

List of variants reported as pathogenic for Leukoencephalopathy with calcifications and cysts by OMIM

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_183065.4(TMEM107):c.*759C>T rs201787275 0.00162
NR_033294.2(SNORD118):n.57G>A rs886039784 0.00004
NC_000017.11:g.8173569_8173597dup rs1555525654
NC_000017.11:g.8173637_8173642del rs886039783
NM_183065.4(TMEM107):c.*755C>T rs75008470
NR_033294.2(SNORD118):n.58A>G rs755495846

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