ClinVar Miner

List of variants reported as benign for Xeroderma pigmentosum, group F; Cockayne syndrome; Fanconi anemia complementation group Q by Invitae

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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_005236.3(ERCC4):c.974-7G>A rs254942 0.97995
NM_005236.3(ERCC4):c.2505T>C (p.Ser835=) rs1799801 0.24619
NM_005236.3(ERCC4):c.207+11G>A rs762521 0.22979
NM_005236.3(ERCC4):c.1984T>C (p.Ser662Pro) rs2020955 0.06391
NM_005236.3(ERCC4):c.1244G>A (p.Arg415Gln) rs1800067 0.05364
NM_005236.3(ERCC4):c.33C>T (p.Ala11=) rs3136042 0.01420
NM_005236.3(ERCC4):c.1884A>G (p.Glu628=) rs2020958 0.01408
NM_005236.3(ERCC4):c.2624A>G (p.Glu875Gly) rs1800124 0.01216
NM_005236.3(ERCC4):c.2655G>A (p.Thr885=) rs16963255 0.01026
NM_005236.3(ERCC4):c.252C>T (p.Leu84=) rs3136056 0.00941
NM_005236.3(ERCC4):c.2463A>G (p.Pro821=) rs2020953 0.00706
NM_005236.3(ERCC4):c.2617A>G (p.Ile873Val) rs2020957 0.00625
NM_005236.3(ERCC4):c.1135C>T (p.Pro379Ser) rs1799802 0.00471
NM_005236.3(ERCC4):c.1446A>G (p.Glu482=) rs114077770 0.00403
NM_005236.3(ERCC4):c.2724C>T (p.Val908=) rs3136225 0.00290
NM_005236.3(ERCC4):c.1812-5T>C rs2020952 0.00215
NM_005236.3(ERCC4):c.2117T>C (p.Ile706Thr) rs1800069 0.00190
NM_005236.3(ERCC4):c.974-6T>C rs201181735 0.00091
NM_005236.3(ERCC4):c.973+11A>T rs185779788 0.00013
NM_005236.3(ERCC4):c.793-13A>T rs201159142 0.00011
NM_005236.3(ERCC4):c.2545C>G (p.Gln849Glu) rs374186605 0.00008
NM_005236.3(ERCC4):c.389-5C>T rs377224276 0.00006
NC_000016.10:g.13919809A>C rs6498486
NM_005236.3(ERCC4):c.241G>T (p.Val81Phe) rs55761944

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