ClinVar Miner

List of variants studied for Brooke-Spiegler syndrome; Familial cylindromatosis; Frontotemporal dementia and/or amyotrophic lateral sclerosis 8; Trichoepithelioma, multiple familial, 1

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001378743.1(CYLD):c.100C>A (p.Gln34Lys)
NM_001378743.1(CYLD):c.1027A>G (p.Thr343Ala)
NM_001378743.1(CYLD):c.1112C>A (p.Ser371Ter) rs886040872
NM_001378743.1(CYLD):c.244C>T (p.Leu82Phe)
NM_001378743.1(CYLD):c.2806C>T (p.Arg936Ter) rs121908390

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