List of variants reported as pathogenic for Brooke-Spiegler syndrome

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_001378743.1(CYLD):c.2299A>T (p.Lys767Ter)	rs886040888	0.00001
NM_001378743.1(CYLD):c.1392dup (p.Gly465fs)	rs1597052041
NM_001378743.1(CYLD):c.1537dup (p.Cys513fs)	rs886040874
NM_001378743.1(CYLD):c.1599dup (p.Val534fs)	rs886040875
NM_001378743.1(CYLD):c.2108G>A (p.Arg703Lys)	rs886040884
NM_001378743.1(CYLD):c.2138_2139dup (p.Phe714fs)	rs886040885
NM_001378743.1(CYLD):c.2172del (p.Val725fs)	rs2506802256
NM_001378743.1(CYLD):c.2240A>G (p.Glu747Gly)	rs121908389
NM_001378743.1(CYLD):c.2252del (p.Cys751fs)	rs1597088499
NM_001378743.1(CYLD):c.2272C>T (p.Arg758Ter)	rs121908388
NM_001378743.1(CYLD):c.2806C>T (p.Arg936Ter)	rs121908390
NM_001378743.1(CYLD):c.968_977del (p.Ser323fs)	rs886040870

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