ClinVar Miner

List of variants studied for Leukoencephalopathy with calcifications and cysts by Undiagnosed Diseases Network, NIH

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_183065.4(TMEM107):c.*609G>A rs200531412
NR_033294.2(SNORD118):n.131C>G rs746503581
NR_033294.2(SNORD118):n.20C>T rs545394298
NR_033294.2(SNORD118):n.3C>T rs117735243

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