ClinVar Miner

List of variants in gene combination SNORD118, TMEM107 reported as uncertain significance for leukoencephalopathy with calcifications and cysts

Included ClinVar conditions (1):
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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_183065.4(TMEM107):c.*617C>T rs117735243
NM_183065.4(TMEM107):c.*634C>T rs545394298
NM_183065.4(TMEM107):c.*674G>T
NM_183065.4(TMEM107):c.*686A>C
NM_183065.4(TMEM107):c.*718G>A rs201686383
NM_183065.4(TMEM107):c.*733G>T rs186890613
NM_183065.4(TMEM107):c.*745C>G rs746503581

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