ClinVar Miner

List of variants reported as pathogenic for Dyskeratosis congenita by Bone Marrow Failure laboratory,Queen Mary University London

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Total variants: 3
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NM_002582.4(PARN):c.1148C>T (p.Ala383Val) rs786200999
NM_002582.4(PARN):c.918+1G>T rs756132866

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