ClinVar Miner

List of variants in gene ERCC4 reported as benign

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 73
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HGVS dbSNP gnomAD frequency
NM_005236.3(ERCC4):c.1812-103G>A rs31869 0.99857
NM_005236.3(ERCC4):c.974-7G>A rs254942 0.97995
NM_005236.3(ERCC4):c.793-160C>T rs3136112 0.41763
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.1102+307G>A rs3136124 0.20388
NM_005236.3(ERCC4):c.974-303T>G rs3136118 0.11723
NM_005236.3(ERCC4):c.1811+234G>A rs3136152 0.10898
NM_005236.3(ERCC4):c.1102+219G>A rs3136122 0.09227
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.208-311C>G rs3136055 0.05513
NM_005236.3(ERCC4):c.1244G>A (p.Arg415Gln) rs1800067 0.05364
NM_005236.3(ERCC4):c.2017+223G>A rs3136207 0.05298
NM_005236.3(ERCC4):c.*1421G>T rs76447723 0.04451
NM_005236.3(ERCC4):c.1905-241T>C rs3136205 0.03940
NM_005236.3(ERCC4):c.1904+156A>C rs3136164 0.03898
NM_005236.3(ERCC4):c.1103-317C>T rs3136139 0.03889
NM_005236.3(ERCC4):c.1103-90T>C rs10492765 0.03880
NM_005236.3(ERCC4):c.389-36C>G rs3136091 0.03046
NM_005236.3(ERCC4):c.1102+237C>G rs3136123 0.03043
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.389-200G>A rs3136089 0.01544
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.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.*3327A>G rs535056033 0.00111
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.2647G>A (p.Glu883Lys) rs201652412 0.00012
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
NM_005236.3(ERCC4):c.2423C>G (p.Ala808Gly) rs746576915 0.00004
GRCh37/hg19 16p13.12(chr16:13915807-14072099)x1
NC_000016.10:g.13919809A>C rs6498486
NM_005236.3(ERCC4):c.*2577del rs61422086
NM_005236.3(ERCC4):c.*2744T>A rs12325236
NM_005236.3(ERCC4):c.*3913G>C rs112259692
NM_005236.3(ERCC4):c.*3953del rs397778750
NM_005236.3(ERCC4):c.*810G>A rs2276465
NM_005236.3(ERCC4):c.1103-311C>G rs3136140
NM_005236.3(ERCC4):c.1213+11dup
NM_005236.3(ERCC4):c.1213+220G>A rs3136146
NM_005236.3(ERCC4):c.1391A>T (p.Lys464Ile) rs780488548
NM_005236.3(ERCC4):c.1905-215_1905-213del rs3136206
NM_005236.3(ERCC4):c.241G>T (p.Val81Phe) rs55761944
NM_005236.3(ERCC4):c.974-122C>A rs3136120
NM_005236.3(ERCC4):c.974-7_974-6inv

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