ClinVar Miner

List of variants studied for Brooke-Spiegler syndrome by OMIM

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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CYLD, 1-BP DEL, 2172A
CYLD, 1-BP DEL, 2253G
CYLD, 1-BP DUP, 1392T
CYLD, 1-BP DUP, 561T
CYLD, 2-BP DEL, 2241AG
CYLD, 4-BP DEL, 1950-1GATA
CYLD, IVS12AS, T-G, +2
CYLD, NT2469, G-A, +1
NM_015247.2(CYLD):c.2240A>G (p.Glu747Gly) rs121908389
NM_015247.2(CYLD):c.2272C>T (p.Arg758Ter) rs121908388
NM_015247.2(CYLD):c.2806C>T (p.Arg936Ter) rs121908390

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