ClinVar Miner

List of variants reported as pathogenic for Familial multiple trichoepitheliomata

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001378743.1(CYLD):c.1826+2T>G rs1597058708
NM_001378743.1(CYLD):c.2240A>G (p.Glu747Gly) rs121908389
NM_001378743.1(CYLD):c.2240_2241del (p.Glu747fs) rs1597085967
NM_001378743.1(CYLD):c.2806C>T (p.Arg936Ter) rs121908390

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