ClinVar Miner

List of variants reported as pathogenic for Cylindromatosis, familial by OMIM

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Total variants: 6
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CYLD, 4-BP DEL, 1950-1GATA
NM_015247.2(CYLD):c.2252del (p.Cys751fs)
NM_015247.2(CYLD):c.2272C>T (p.Arg758Ter) rs121908388
NM_015247.2(CYLD):c.2806C>T (p.Arg936Ter) rs121908390
NM_015247.2(CYLD):c.561dup (p.Gln188fs)

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