ClinVar Miner

List of variants reported as benign for Xeroderma pigmentosum, group F

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Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_005236.3(ERCC4):c.974-7G>A rs254942 0.97995
NM_005236.3(ERCC4):c.*484G>T rs3743538 0.36827
NM_005236.3(ERCC4):c.1905-35T>C rs1799799 0.36580
NM_005236.3(ERCC4):c.*2513C>A rs11075223 0.29307
NM_005236.3(ERCC4):c.*3032G>T rs4781562 0.27315
NM_005236.3(ERCC4):c.2505T>C (p.Ser835=) rs1799801 0.24619
NM_005236.3(ERCC4):c.*971C>G rs2276466 0.24309
NM_005236.3(ERCC4):c.*726G>C rs2276464 0.24180
NM_005236.3(ERCC4):c.*3195G>A rs4781563 0.23275
NM_005236.3(ERCC4):c.*2577C>A rs56012340 0.23225
NM_005236.3(ERCC4):c.207+11G>A rs762521 0.22979
NM_005236.3(ERCC4):c.1905-28G>A rs1799800 0.22729
NM_005236.3(ERCC4):c.*2174A>G rs9925509 0.07847
NM_005236.3(ERCC4):c.*3493T>C rs79560972 0.07396
NM_005236.3(ERCC4):c.1984T>C (p.Ser662Pro) rs2020955 0.06391
NM_005236.3(ERCC4):c.*3801C>T rs113403633 0.06215
NM_005236.3(ERCC4):c.1244G>A (p.Arg415Gln) rs1800067 0.05364
NM_005236.3(ERCC4):c.*1421G>T rs76447723 0.04451
NM_005236.3(ERCC4):c.*11C>T rs9929524 0.02645
NM_005236.3(ERCC4):c.*674G>C rs1651204 0.02273
NM_005236.3(ERCC4):c.*3125A>G rs115183774 0.02088
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.*1880C>T rs112776898 0.01335
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.*2539A>G rs115526695 0.00547
NM_005236.3(ERCC4):c.*1472C>T rs112742002 0.00528
NM_005236.3(ERCC4):c.1446A>G (p.Glu482=) rs114077770 0.00403
NM_005236.3(ERCC4):c.*3327A>G rs535056033 0.00111
NM_005236.3(ERCC4):c.389-5C>T rs377224276 0.00006
NM_005236.3(ERCC4):c.*2744T>A rs12325236
NM_005236.3(ERCC4):c.*3913G>C rs112259692
NM_005236.3(ERCC4):c.*810G>A rs2276465

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