ClinVar Miner

List of variants in gene ERCC4 studied for not provided

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Gene type:
ClinVar version:
Total variants: 132
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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.1905-35T>C rs1799799 0.36580
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.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.1984T>C (p.Ser662Pro) rs2020955 0.06391
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.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.389-200G>A rs3136089 0.01544
NC_000016.10:g.13919990C>G rs3136040 0.01331
NM_005236.3(ERCC4):c.2624A>G (p.Glu875Gly) rs1800124 0.01216
NM_005236.3(ERCC4):c.1904+190G>A rs3136165 0.01167
NM_005236.3(ERCC4):c.389-206C>T rs112309788 0.01057
NM_005236.3(ERCC4):c.793-69G>T rs10048099 0.01053
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.2617A>G (p.Ile873Val) rs2020957 0.00625
NM_005236.3(ERCC4):c.1213+214G>A rs74009237 0.00605
NM_005236.3(ERCC4):c.1905-140A>T rs112050686 0.00509
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.2117T>C (p.Ile706Thr) rs1800069 0.00190
NM_005236.3(ERCC4):c.325G>A (p.Ala109Thr) rs148791570 0.00107
NM_005236.3(ERCC4):c.1563C>G (p.Ser521Arg) rs41552412 0.00099
NM_005236.3(ERCC4):c.974-6T>C rs201181735 0.00091
NM_005236.3(ERCC4):c.1727G>C (p.Arg576Thr) rs1800068 0.00082
NM_005236.3(ERCC4):c.532G>T (p.Val178Leu) rs149927607 0.00070
NM_005236.3(ERCC4):c.2677A>G (p.Asn893Asp) rs201926295 0.00036
NM_005236.3(ERCC4):c.217A>G (p.Ile73Val) rs141591400 0.00033
NM_005236.3(ERCC4):c.211T>C (p.Tyr71His) rs145315496 0.00027
NM_005236.3(ERCC4):c.1102G>A (p.Glu368Lys) rs148933357 0.00024
NM_005236.3(ERCC4):c.738G>A (p.Ser246=) rs146650135 0.00021
NM_005236.3(ERCC4):c.2517C>T (p.Pro839=) rs200715555 0.00014
NM_005236.3(ERCC4):c.579G>A (p.Trp193Ter) rs753325454 0.00014
NM_005236.3(ERCC4):c.2395C>T (p.Arg799Trp) rs121913049 0.00013
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.1201C>T (p.Leu401Phe) rs147458778 0.00009
NM_005236.3(ERCC4):c.1619C>T (p.Ser540Leu) rs368830992 0.00009
NM_005236.3(ERCC4):c.1860C>G (p.Leu620=) rs758451676 0.00009
NM_005236.3(ERCC4):c.1983A>G (p.Ala661=) rs373237850 0.00009
NM_005236.3(ERCC4):c.703G>A (p.Ala235Thr) rs141101671 0.00009
NM_005236.3(ERCC4):c.1284G>A (p.Ala428=) rs3136151 0.00007
NM_005236.3(ERCC4):c.1853G>A (p.Arg618His) rs760922582 0.00007
NM_005236.3(ERCC4):c.2734G>A (p.Gly912Arg) rs150077735 0.00007
NM_005236.3(ERCC4):c.2218C>T (p.Arg740Cys) rs376688194 0.00006
NM_005236.3(ERCC4):c.2603A>C (p.His868Pro) rs368064765 0.00006
NM_005236.3(ERCC4):c.2725G>A (p.Val909Ile) rs140726146 0.00006
NM_005236.3(ERCC4):c.1001C>T (p.Ser334Leu) rs750883282 0.00005
NM_005236.3(ERCC4):c.1549G>A (p.Glu517Lys) rs150291286 0.00005
NM_005236.3(ERCC4):c.396G>T (p.Leu132Phe) rs1261870926 0.00005
NM_005236.3(ERCC4):c.938T>C (p.Leu313Pro) rs150244523 0.00005
NM_005236.3(ERCC4):c.1942G>A (p.Gly648Ser) rs369471816 0.00003
NM_005236.3(ERCC4):c.2102G>A (p.Arg701His) rs762543560 0.00003
NM_005236.3(ERCC4):c.2339C>G (p.Ser780Cys) rs766596368 0.00003
NM_005236.3(ERCC4):c.286A>C (p.Ser96Arg) rs775257742 0.00003
NM_005236.3(ERCC4):c.2118T>C (p.Ile706=) rs777766206 0.00002
NM_005236.3(ERCC4):c.256C>T (p.Arg86Cys) rs769932063 0.00002
NM_005236.3(ERCC4):c.2604C>T (p.His868=) rs370809250 0.00002
NM_005236.3(ERCC4):c.700A>C (p.Asn234His) rs368218302 0.00002
NM_005236.3(ERCC4):c.1449A>G (p.Arg483=) rs1177780470 0.00001
NM_005236.3(ERCC4):c.1493T>C (p.Val498Ala) rs373587423 0.00001
NM_005236.3(ERCC4):c.1544G>A (p.Arg515His) rs766111215 0.00001
NM_005236.3(ERCC4):c.1575C>G (p.Cys525Trp) rs779170299 0.00001
NM_005236.3(ERCC4):c.1632C>T (p.Phe544=) rs1002156756 0.00001
NM_005236.3(ERCC4):c.1655C>T (p.Thr552Ile) rs549865610 0.00001
NM_005236.3(ERCC4):c.1811+10A>G rs1477624759 0.00001
NM_005236.3(ERCC4):c.1976G>A (p.Gly659Asp) rs756811179 0.00001
NM_005236.3(ERCC4):c.2169C>A (p.Cys723Ter) rs2020959 0.00001
NM_005236.3(ERCC4):c.2238C>G (p.Ile746Met) rs1258424638 0.00001
NM_005236.3(ERCC4):c.2323T>G (p.Leu775Val) rs1465340264 0.00001
NM_005236.3(ERCC4):c.2434T>C (p.Leu812=) rs1295720869 0.00001
NM_005236.3(ERCC4):c.448C>T (p.Arg150Cys) rs145402255 0.00001
NM_005236.3(ERCC4):c.473G>A (p.Arg158His) rs1012646362 0.00001
NM_005236.3(ERCC4):c.706T>C (p.Cys236Arg) rs397509403 0.00001
GRCh37/hg19 16p13.12(chr16:13915807-14072099)x1
NM_005236.3(ERCC4):c.1009A>G (p.Ile337Val) rs1333280201
NM_005236.3(ERCC4):c.1069dup (p.Ile357fs) rs34607888
NM_005236.3(ERCC4):c.1081dup (p.Met361fs) rs769120755
NM_005236.3(ERCC4):c.1103-311C>G rs3136140
NM_005236.3(ERCC4):c.1162T>G (p.Leu388Val) rs199505105
NM_005236.3(ERCC4):c.1197_1198insCA (p.Ala400fs) rs779091652
NM_005236.3(ERCC4):c.1213+220G>A rs3136146
NM_005236.3(ERCC4):c.1298T>G (p.Leu433Trp)
NM_005236.3(ERCC4):c.1459A>G (p.Lys487Glu)
NM_005236.3(ERCC4):c.1477A>C (p.Thr493Pro)
NM_005236.3(ERCC4):c.1489A>G (p.Met497Val) rs1057519202
NM_005236.3(ERCC4):c.1523_1525del (p.Gly508del) rs1567247992
NM_005236.3(ERCC4):c.1553_1554del (p.Ile518fs) rs1567248043
NM_005236.3(ERCC4):c.1554A>G (p.Ile518Met)
NM_005236.3(ERCC4):c.1597G>A (p.Glu533Lys) rs2141607751
NM_005236.3(ERCC4):c.1762G>A (p.Val588Ile)
NM_005236.3(ERCC4):c.1811+2C>A
NM_005236.3(ERCC4):c.1838C>G (p.Ser613Ter)
NM_005236.3(ERCC4):c.1845G>C (p.Glu615Asp) rs774347057
NM_005236.3(ERCC4):c.1861A>G (p.Thr621Ala) rs2032331839
NM_005236.3(ERCC4):c.1905-215_1905-213del rs3136206
NM_005236.3(ERCC4):c.2017G>A (p.Gly673Ser)
NM_005236.3(ERCC4):c.2065C>A (p.Arg689Ser) rs149364215
NM_005236.3(ERCC4):c.2291del (p.Ser764fs) rs2032549985
NM_005236.3(ERCC4):c.2303C>G (p.Ser768Cys) rs12928650
NM_005236.3(ERCC4):c.2357C>T (p.Ser786Phe) rs1451008479
NM_005236.3(ERCC4):c.241G>T (p.Val81Phe) rs55761944
NM_005236.3(ERCC4):c.2424A>G (p.Ala808=) rs1269027695
NM_005236.3(ERCC4):c.2550CTT[1] (p.Phe851del) rs1567254204
NM_005236.3(ERCC4):c.2726T>C (p.Val909Ala) rs2141621558
NM_005236.3(ERCC4):c.388+1164_792+795del
NM_005236.3(ERCC4):c.516_517del (p.Thr173fs) rs2032078984
NM_005236.3(ERCC4):c.540_541del (p.Arg180fs) rs2032079495
NM_005236.3(ERCC4):c.580_584+1del rs776329282
NM_005236.3(ERCC4):c.584+1G>A rs2032080620
NM_005236.3(ERCC4):c.755del (p.Leu252fs) rs1057520104
NM_005236.3(ERCC4):c.800G>A (p.Arg267His) rs143479220
NM_005236.3(ERCC4):c.850T>C (p.Leu284=)
NM_005236.3(ERCC4):c.915del (p.Asn308fs) rs772432152
NM_005236.3(ERCC4):c.974-122C>A rs3136120
NM_005236.3(ERCC4):c.974-72A>G rs3136121

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