ClinVar Miner

List of variants studied for Brooke-Spiegler syndrome by OMIM

Included ClinVar conditions (4):
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Total variants: 11
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HGVS dbSNP
CYLD, 1-BP DEL, 2172A
CYLD, 4-BP DEL, 1950-1GATA
NM_001042355.2(CYLD):c.2229_2230AG[1] (p.Glu744fs) rs1597085967
NM_015247.2(CYLD):c.1392dup (p.Gly465fs) rs1597052041
NM_015247.2(CYLD):c.1826+2T>G rs1597058708
NM_015247.2(CYLD):c.2240A>G (p.Glu747Gly) rs121908389
NM_015247.2(CYLD):c.2252del (p.Cys751fs) rs1597088499
NM_015247.2(CYLD):c.2272C>T (p.Arg758Ter) rs121908388
NM_015247.2(CYLD):c.2469+1G>A rs1597091470
NM_015247.2(CYLD):c.2806C>T (p.Arg936Ter) rs121908390
NM_015247.2(CYLD):c.561dup (p.Gln188fs) rs1596971597

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