ClinVar Miner

List of variants in gene CYLD reported by Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia

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Gene type:
ClinVar version:
Total variants: 29
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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.1112C>A (p.Ser371Ter) rs886040872
NM_001378743.1(CYLD):c.1327C>T (p.Gln443Ter) rs764952788
NM_001378743.1(CYLD):c.1363C>T (p.Gln455Ter) rs886040873
NM_001378743.1(CYLD):c.1537dup (p.Cys513fs) rs886040874
NM_001378743.1(CYLD):c.1599dup (p.Val534fs) rs886040875
NM_001378743.1(CYLD):c.1658_1661del (p.Asn553fs) rs886040876
NM_001378743.1(CYLD):c.1684+3A>C rs886040878
NM_001378743.1(CYLD):c.1684G>C (p.Ala562Pro) rs886040877
NM_001378743.1(CYLD):c.1771A>T (p.Lys591Ter) rs886040879
NM_001378743.1(CYLD):c.1778G>A (p.Gly593Asp) rs886040880
NM_001378743.1(CYLD):c.1950-2_1953del rs886040882
NM_001378743.1(CYLD):c.1950-5_1950-2del rs886040881
NM_001378743.1(CYLD):c.2041G>C (p.Asp681His) rs886040883
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.2242-2A>G rs886040886
NM_001378743.1(CYLD):c.2291_2295del (p.Lys764fs) rs886040887
NM_001378743.1(CYLD):c.2342T>C (p.Leu781Pro) rs886040889
NM_001378743.1(CYLD):c.2350+1G>T rs886040890
NM_001378743.1(CYLD):c.2390_2391del (p.Met796_Tyr797insTer) rs886040891
NM_001378743.1(CYLD):c.2406_2407del (p.Cys802_Tyr803delinsTer) rs886040892
NM_001378743.1(CYLD):c.2515del (p.Ser839fs) rs886040893
NM_001378743.1(CYLD):c.2569C>T (p.Gln857Ter) rs886040894
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.911dup (p.Ala305fs) rs886040869
NM_001378743.1(CYLD):c.968_977del (p.Ser323fs) rs886040870
NM_001378743.1(CYLD):c.987_988dup (p.Gly330fs) rs886040871

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