ClinVar Miner

List of variants in gene combination CTC1, TRS-AGA2-6 reported as uncertain significance for Dyskeratosis congenita

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_025099.6(CTC1):c.*1540C>T rs755418655 0.00032
NM_025099.6(CTC1):c.*1534G>A rs561385282 0.00021
NM_025099.6(CTC1):c.*1495G>A rs886053600 0.00004
NM_025099.6(CTC1):c.*1553C>T rs986375644 0.00002
NM_025099.6(CTC1):c.*1565A>G rs886053598 0.00001
NM_025099.6(CTC1):c.*1517G>A rs998188449
NM_025099.6(CTC1):c.*1531T>C rs558571255
NM_025099.6(CTC1):c.*1542C>G rs886053599
NM_025099.6(CTC1):c.*1569C>T rs138405975

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