ClinVar Miner

List of variants in gene CYLD reported as pathogenic for not provided

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Gene type:
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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_001378743.1(CYLD):c.1094C>A (p.Ser365Ter)
NM_001378743.1(CYLD):c.1111del (p.Ser371fs)
NM_001378743.1(CYLD):c.1112C>A (p.Ser371Ter) rs886040872
NM_001378743.1(CYLD):c.1126dup (p.Tyr376fs)
NM_001378743.1(CYLD):c.1537dup (p.Cys513fs) rs886040874
NM_001378743.1(CYLD):c.1681_1682del (p.Leu561fs) rs1597055529
NM_001378743.1(CYLD):c.1840_1843del (p.Ser614fs)
NM_001378743.1(CYLD):c.1930del (p.Ile644fs)
NM_001378743.1(CYLD):c.2119C>T (p.Gln707Ter)
NM_001378743.1(CYLD):c.2215_2241+289del
NM_001378743.1(CYLD):c.2272C>T (p.Arg758Ter) rs121908388
NM_001378743.1(CYLD):c.2288_2289del (p.Asp762_Phe763insTer)
NM_001378743.1(CYLD):c.2291_2295del (p.Lys764fs) rs886040887
NM_001378743.1(CYLD):c.2516C>G (p.Ser839Ter)
NM_001378743.1(CYLD):c.2713C>T (p.Gln905Ter)
NM_001378743.1(CYLD):c.2806C>T (p.Arg936Ter) rs121908390
NM_001378743.1(CYLD):c.831_834del (p.Asp277fs) rs886040868
NM_001378743.1(CYLD):c.890_892delinsGT (p.Leu297fs)

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