ClinVar Miner

List of variants in gene CTC1 reported as uncertain significance for Dyskeratosis Congenita, Recessive

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_025099.6(CTC1):c.*1997dup rs141982483 0.00036
NM_025099.6(CTC1):c.*1573A>G rs546867578 0.00010
NM_025099.6(CTC1):c.*207T>C rs774013108 0.00001
NM_025099.6(CTC1):c.*1594_*1597del rs886053597
NM_025099.6(CTC1):c.*1599_*1603delinsTGGAGAGAAATA rs886053596
NM_025099.6(CTC1):c.*2364AT[3] rs886053589

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