ClinVar Miner

List of variants in gene ERCC4 reported as uncertain significance

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 443
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005236.3(ERCC4):c.1135C>T (p.Pro379Ser) rs1799802 0.00471
NM_005236.3(ERCC4):c.2579C>A (p.Ala860Asp) rs4986933 0.00253
NM_005236.3(ERCC4):c.1812-5T>C rs2020952 0.00215
NM_005236.3(ERCC4):c.1488A>T (p.Gln496His) rs146601373 0.00201
NM_005236.3(ERCC4):c.2117T>C (p.Ile706Thr) rs1800069 0.00190
NM_005236.3(ERCC4):c.*2892C>G rs376334296 0.00176
NM_005236.3(ERCC4):c.*1251T>C rs532485638 0.00143
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.*2588A>G rs188840787 0.00092
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.2292C>T (p.Ser764=) rs139406689 0.00060
NM_005236.3(ERCC4):c.*1858C>T rs775803860 0.00046
NM_005236.3(ERCC4):c.1802A>C (p.Lys601Thr) rs138532294 0.00038
NM_005236.3(ERCC4):c.*1288G>A rs143188036 0.00036
NM_005236.3(ERCC4):c.2677A>G (p.Asn893Asp) rs201926295 0.00036
NM_005236.3(ERCC4):c.*2710C>T rs1009636631 0.00035
NM_005236.3(ERCC4):c.217A>G (p.Ile73Val) rs141591400 0.00033
NM_005236.3(ERCC4):c.*1478T>C rs754423213 0.00031
NM_005236.3(ERCC4):c.*2759C>T rs776910274 0.00030
NM_005236.3(ERCC4):c.211T>C (p.Tyr71His) rs145315496 0.00027
NM_005236.3(ERCC4):c.*2255G>A rs886051675 0.00025
NM_005236.3(ERCC4):c.*384A>G rs886051668 0.00024
NM_005236.3(ERCC4):c.1102G>A (p.Glu368Lys) rs148933357 0.00024
NM_005236.3(ERCC4):c.*3130T>C rs189232031 0.00022
NM_005236.3(ERCC4):c.1581A>T (p.Glu527Asp) rs200649435 0.00019
NM_005236.3(ERCC4):c.*3818G>A rs886051683 0.00016
NM_005236.3(ERCC4):c.2427G>A (p.Thr809=) rs2020960 0.00016
NM_005236.3(ERCC4):c.*1981C>T rs1047686990 0.00015
NM_005236.3(ERCC4):c.471A>G (p.Lys157=) rs3136092 0.00014
NM_005236.3(ERCC4):c.*1774C>T rs772694607 0.00013
NM_005236.3(ERCC4):c.1633G>A (p.Gly545Arg) rs773007457 0.00013
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.*1256G>C rs373479879 0.00012
NM_005236.3(ERCC4):c.2186T>C (p.Ile729Thr) rs375860375 0.00012
NM_005236.3(ERCC4):c.*2415A>G rs549968233 0.00011
NM_005236.3(ERCC4):c.*2463C>G rs895959283 0.00011
NM_005236.3(ERCC4):c.1268A>G (p.Tyr423Cys) rs143924094 0.00011
NM_005236.3(ERCC4):c.*2712C>T rs552190642 0.00010
NM_005236.3(ERCC4):c.*539G>A rs565318315 0.00010
NM_005236.3(ERCC4):c.*745A>G rs541739848 0.00010
NM_005236.3(ERCC4):c.1102+13G>T rs199772721 0.00010
NM_005236.3(ERCC4):c.*1676G>A rs960247338 0.00009
NM_005236.3(ERCC4):c.*218A>G rs879319131 0.00009
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.1676G>A (p.Gly559Asp) rs370896187 0.00009
NM_005236.3(ERCC4):c.2290A>G (p.Ser764Gly) rs146764714 0.00009
NM_005236.3(ERCC4):c.537A>G (p.Glu179=) rs373408411 0.00009
NM_005236.3(ERCC4):c.703G>A (p.Ala235Thr) rs141101671 0.00009
NM_005236.3(ERCC4):c.*411C>T rs141279442 0.00008
NM_005236.3(ERCC4):c.2545C>G (p.Gln849Glu) rs374186605 0.00008
NM_005236.3(ERCC4):c.1284G>A (p.Ala428=) rs3136151 0.00007
NM_005236.3(ERCC4):c.1684G>A (p.Asp562Asn) rs55736359 0.00007
NM_005236.3(ERCC4):c.1853G>A (p.Arg618His) rs760922582 0.00007
NM_005236.3(ERCC4):c.1871G>A (p.Arg624Gln) rs180919656 0.00007
NM_005236.3(ERCC4):c.2248C>T (p.Arg750Cys) rs374978891 0.00007
NM_005236.3(ERCC4):c.2288C>T (p.Pro763Leu) rs761087753 0.00007
NM_005236.3(ERCC4):c.2734G>A (p.Gly912Arg) rs150077735 0.00007
NM_005236.3(ERCC4):c.*2423A>G rs886051676 0.00006
NM_005236.3(ERCC4):c.*248G>A rs541600279 0.00006
NM_005236.3(ERCC4):c.1728A>T (p.Arg576Ser) rs765454246 0.00006
NM_005236.3(ERCC4):c.1740T>G (p.Leu580=) rs374556359 0.00006
NM_005236.3(ERCC4):c.2218C>T (p.Arg740Cys) rs376688194 0.00006
NM_005236.3(ERCC4):c.257G>A (p.Arg86His) rs187435008 0.00006
NM_005236.3(ERCC4):c.2603A>C (p.His868Pro) rs368064765 0.00006
NM_005236.3(ERCC4):c.260G>A (p.Arg87His) rs371487368 0.00006
NM_005236.3(ERCC4):c.2725G>A (p.Val909Ile) rs140726146 0.00006
NM_005236.3(ERCC4):c.*106A>G rs983200560 0.00005
NM_005236.3(ERCC4):c.1001C>T (p.Ser334Leu) rs750883282 0.00005
NM_005236.3(ERCC4):c.1193G>A (p.Ser398Asn) rs1238124123 0.00005
NM_005236.3(ERCC4):c.1549G>A (p.Glu517Lys) rs150291286 0.00005
NM_005236.3(ERCC4):c.2125G>A (p.Val709Met) rs373906926 0.00005
NM_005236.3(ERCC4):c.2546A>T (p.Gln849Leu) rs750999717 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.*3044A>C rs886051679 0.00004
NM_005236.3(ERCC4):c.1415C>T (p.Pro472Leu) rs572439259 0.00004
NM_005236.3(ERCC4):c.1648C>T (p.Pro550Ser) rs139197943 0.00004
NM_005236.3(ERCC4):c.1746C>G (p.Asp582Glu) rs775278986 0.00004
NM_005236.3(ERCC4):c.1917C>A (p.Ser639Arg) rs377213481 0.00004
NM_005236.3(ERCC4):c.2009G>A (p.Arg670Gln) rs56129764 0.00004
NM_005236.3(ERCC4):c.2016C>T (p.Ala672=) rs775414253 0.00004
NM_005236.3(ERCC4):c.2156C>A (p.Thr719Asn) rs779096061 0.00004
NM_005236.3(ERCC4):c.2219G>A (p.Arg740His) rs758565772 0.00004
NM_005236.3(ERCC4):c.2392C>G (p.Leu798Val) rs369736388 0.00004
NM_005236.3(ERCC4):c.2423C>G (p.Ala808Gly) rs746576915 0.00004
NM_005236.3(ERCC4):c.799C>T (p.Arg267Cys) rs373570729 0.00004
NM_005236.3(ERCC4):c.991T>A (p.Ser331Thr) rs762052950 0.00004
NM_005236.3(ERCC4):c.*1463C>T rs886051671 0.00003
NM_005236.3(ERCC4):c.1577C>T (p.Pro526Leu) rs149056863 0.00003
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.2105G>A (p.Arg702Gln) rs144058769 0.00003
NM_005236.3(ERCC4):c.2295G>T (p.Lys765Asn) rs1567253853 0.00003
NM_005236.3(ERCC4):c.2339C>G (p.Ser780Cys) rs766596368 0.00003
NM_005236.3(ERCC4):c.2477C>T (p.Ala826Val) rs141790888 0.00003
NM_005236.3(ERCC4):c.2591G>A (p.Arg864His) rs1211543560 0.00003
NM_005236.3(ERCC4):c.286A>C (p.Ser96Arg) rs775257742 0.00003
NM_005236.3(ERCC4):c.346G>A (p.Val116Ile) rs763811136 0.00003
NM_005236.3(ERCC4):c.377A>T (p.Asp126Val) rs941012957 0.00003
NM_005236.3(ERCC4):c.425C>A (p.Ser142Tyr) rs764093404 0.00003
NM_005236.3(ERCC4):c.809T>C (p.Leu270Pro) rs1457864707 0.00003
NM_005236.3(ERCC4):c.934T>G (p.Ser312Ala) rs200596978 0.00003
NM_005236.3(ERCC4):c.989A>C (p.Asp330Ala) rs777183693 0.00003
NM_005236.3(ERCC4):c.*3443G>A rs1023910862 0.00002
NM_005236.3(ERCC4):c.1019G>A (p.Arg340Gln) rs753728949 0.00002
NM_005236.3(ERCC4):c.1379A>T (p.Lys460Met) rs761301503 0.00002
NM_005236.3(ERCC4):c.1654A>G (p.Thr552Ala) rs773850619 0.00002
NM_005236.3(ERCC4):c.2087C>T (p.Pro696Leu) rs752894496 0.00002
NM_005236.3(ERCC4):c.2266G>A (p.Val756Met) rs201501958 0.00002
NM_005236.3(ERCC4):c.2514T>C (p.Leu838=) rs200069811 0.00002
NM_005236.3(ERCC4):c.256C>T (p.Arg86Cys) rs769932063 0.00002
NM_005236.3(ERCC4):c.472C>T (p.Arg158Cys) rs746296279 0.00002
NM_005236.3(ERCC4):c.700A>C (p.Asn234His) rs368218302 0.00002
NM_005236.3(ERCC4):c.875G>A (p.Arg292Gln) rs202243691 0.00002
NM_005236.3(ERCC4):c.*150T>C rs886051667 0.00001
NM_005236.3(ERCC4):c.*1635G>A rs1466776661 0.00001
NM_005236.3(ERCC4):c.*1897A>C rs886051672 0.00001
NM_005236.3(ERCC4):c.*2180G>A rs886051673 0.00001
NM_005236.3(ERCC4):c.*2240A>G rs886051674 0.00001
NM_005236.3(ERCC4):c.*2849G>A rs567543133 0.00001
NM_005236.3(ERCC4):c.*3071T>C rs886051680 0.00001
NM_005236.3(ERCC4):c.*3965G>A rs1177954651 0.00001
NM_005236.3(ERCC4):c.*630C>T rs1408482875 0.00001
NM_005236.3(ERCC4):c.*875A>G rs886051670 0.00001
NM_005236.3(ERCC4):c.1004T>C (p.Met335Thr) rs1458037304 0.00001
NM_005236.3(ERCC4):c.1090A>G (p.Lys364Glu) rs765535723 0.00001
NM_005236.3(ERCC4):c.1110A>T (p.Lys370Asn) rs774643449 0.00001
NM_005236.3(ERCC4):c.1207G>C (p.Gly403Arg) rs751348446 0.00001
NM_005236.3(ERCC4):c.1210C>T (p.Pro404Ser) rs767454772 0.00001
NM_005236.3(ERCC4):c.1212A>G (p.Pro404=) rs752193295 0.00001
NM_005236.3(ERCC4):c.1217A>G (p.Gln406Arg) rs762147159 0.00001
NM_005236.3(ERCC4):c.1265A>T (p.Asp422Val) rs767408205 0.00001
NM_005236.3(ERCC4):c.1301G>A (p.Arg434Lys) rs1473430382 0.00001
NM_005236.3(ERCC4):c.1304T>G (p.Leu435Arg) rs1001540758 0.00001
NM_005236.3(ERCC4):c.1334A>C (p.Lys445Thr) rs368559924 0.00001
NM_005236.3(ERCC4):c.1336G>T (p.Ala446Ser) rs1298488189 0.00001
NM_005236.3(ERCC4):c.1364A>G (p.Lys455Arg) rs759312308 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.1647A>C (p.Glu549Asp) rs886051665 0.00001
NM_005236.3(ERCC4):c.1655C>T (p.Thr552Ile) rs549865610 0.00001
NM_005236.3(ERCC4):c.1787C>A (p.Ala596Glu) rs751782722 0.00001
NM_005236.3(ERCC4):c.1831G>A (p.Gly611Arg) rs749814308 0.00001
NM_005236.3(ERCC4):c.1975G>A (p.Gly659Ser) rs753506602 0.00001
NM_005236.3(ERCC4):c.1976G>A (p.Gly659Asp) rs756811179 0.00001
NM_005236.3(ERCC4):c.1979C>T (p.Thr660Ile) rs779366136 0.00001
NM_005236.3(ERCC4):c.2017+3G>A rs1596634140 0.00001
NM_005236.3(ERCC4):c.2065C>T (p.Arg689Cys) rs149364215 0.00001
NM_005236.3(ERCC4):c.2078G>T (p.Ser693Ile) rs746784825 0.00001
NM_005236.3(ERCC4):c.2101C>T (p.Arg701Cys) rs772728961 0.00001
NM_005236.3(ERCC4):c.2169C>A (p.Cys723Ter) rs2020959 0.00001
NM_005236.3(ERCC4):c.2176C>T (p.Arg726Cys) rs777184889 0.00001
NM_005236.3(ERCC4):c.2178C>T (p.Arg726=) rs1255618541 0.00001
NM_005236.3(ERCC4):c.2199C>T (p.Ile733=) rs372425414 0.00001
NM_005236.3(ERCC4):c.2200G>A (p.Gly734Ser) rs753924297 0.00001
NM_005236.3(ERCC4):c.2238C>G (p.Ile746Met) rs1258424638 0.00001
NM_005236.3(ERCC4):c.2260C>T (p.Arg754Cys) rs535728795 0.00001
NM_005236.3(ERCC4):c.228G>A (p.Leu76=) rs61760162 0.00001
NM_005236.3(ERCC4):c.2323T>G (p.Leu775Val) rs1465340264 0.00001
NM_005236.3(ERCC4):c.232A>T (p.Ile78Leu) rs765712858 0.00001
NM_005236.3(ERCC4):c.2452C>G (p.Gln818Glu) rs774635437 0.00001
NM_005236.3(ERCC4):c.2500G>T (p.Asp834Tyr) rs138583819 0.00001
NM_005236.3(ERCC4):c.2534A>G (p.Asn845Ser) rs377562755 0.00001
NM_005236.3(ERCC4):c.2588G>C (p.Cys863Ser) rs749822053 0.00001
NM_005236.3(ERCC4):c.2590C>T (p.Arg864Cys) rs587778284 0.00001
NM_005236.3(ERCC4):c.259C>T (p.Arg87Cys) rs191886782 0.00001
NM_005236.3(ERCC4):c.2693A>G (p.Tyr898Cys) rs2032564211 0.00001
NM_005236.3(ERCC4):c.2735G>A (p.Gly912Glu) rs2020956 0.00001
NM_005236.3(ERCC4):c.2744A>G (p.Lys915Arg) rs1184352382 0.00001
NM_005236.3(ERCC4):c.275T>G (p.Ile92Ser) rs556330628 0.00001
NM_005236.3(ERCC4):c.326C>T (p.Ala109Val) rs767586458 0.00001
NM_005236.3(ERCC4):c.367A>G (p.Ile123Val) rs144666685 0.00001
NM_005236.3(ERCC4):c.376G>C (p.Asp126His) rs1192940719 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.541G>A (p.Val181Met) rs750673145 0.00001
NM_005236.3(ERCC4):c.728A>G (p.His243Arg) rs144608823 0.00001
NM_005236.3(ERCC4):c.737C>T (p.Ser246Leu) rs370864937 0.00001
NM_005236.3(ERCC4):c.782C>T (p.Pro261Leu) rs765111229 0.00001
NM_005236.3(ERCC4):c.794C>T (p.Thr265Ile) rs1265753536 0.00001
NM_005236.3(ERCC4):c.798C>G (p.Ile266Met) rs746106147 0.00001
NM_005236.3(ERCC4):c.830T>C (p.Leu277Pro) rs2032156137 0.00001
NM_005236.3(ERCC4):c.840G>A (p.Lys280=) rs886051659 0.00001
NM_005236.3(ERCC4):c.947C>T (p.Thr316Met) rs1340754747 0.00001
GRCh37/hg19 16p13.12(chr16:13889247-14163635)x3
NC_000016.10:g.(?_13821951)_(13937868_?)dup
NC_000016.9:g.(?_14031613)_(14031725_?)del
NM_005236.3(ERCC4):c.*1796T>C rs565142105
NM_005236.3(ERCC4):c.*1915A>G rs910231660
NM_005236.3(ERCC4):c.*192T>C rs536552167
NM_005236.3(ERCC4):c.*2072T>G rs2032608833
NM_005236.3(ERCC4):c.*2455G>T rs1406055423
NM_005236.3(ERCC4):c.*248G>T rs541600279
NM_005236.3(ERCC4):c.*2572C>G rs979385159
NM_005236.3(ERCC4):c.*2659T>C rs886051677
NM_005236.3(ERCC4):c.*2825A>T rs2032623031
NM_005236.3(ERCC4):c.*2872A>C rs886051678
NM_005236.3(ERCC4):c.*2879A>C rs181178937
NM_005236.3(ERCC4):c.*3230C>G rs2032630522
NM_005236.3(ERCC4):c.*3282C>G rs2032631201
NM_005236.3(ERCC4):c.*3319G>A rs567578149
NM_005236.3(ERCC4):c.*3542T>C rs886051681
NM_005236.3(ERCC4):c.*3753C>G rs886051682
NM_005236.3(ERCC4):c.*3921A>C rs773246781
NM_005236.3(ERCC4):c.*712A>G rs2032580067
NM_005236.3(ERCC4):c.*859A>C rs886051669
NM_005236.3(ERCC4):c.1003A>G (p.Met335Val)
NM_005236.3(ERCC4):c.1009A>G (p.Ile337Val) rs1333280201
NM_005236.3(ERCC4):c.1013A>G (p.Asn338Ser)
NM_005236.3(ERCC4):c.1027G>A (p.Val343Ile) rs755219554
NM_005236.3(ERCC4):c.1031A>G (p.Tyr344Cys) rs145851520
NM_005236.3(ERCC4):c.1031A>T (p.Tyr344Phe) rs145851520
NM_005236.3(ERCC4):c.1045G>A (p.Ala349Thr) rs201410515
NM_005236.3(ERCC4):c.1066A>G (p.Lys356Glu)
NM_005236.3(ERCC4):c.1112A>G (p.Lys371Arg) rs886051662
NM_005236.3(ERCC4):c.1114G>A (p.Glu372Lys) rs2032238318
NM_005236.3(ERCC4):c.1148C>T (p.Ala383Val)
NM_005236.3(ERCC4):c.1162T>G (p.Leu388Val) rs199505105
NM_005236.3(ERCC4):c.1192A>G (p.Ser398Gly) rs2141605947
NM_005236.3(ERCC4):c.1204G>C (p.Gly402Arg)
NM_005236.3(ERCC4):c.1235G>A (p.Ser412Asn)
NM_005236.3(ERCC4):c.1243C>G (p.Arg415Gly) rs374470560
NM_005236.3(ERCC4):c.1283C>T (p.Ala428Val)
NM_005236.3(ERCC4):c.1285G>A (p.Glu429Lys) rs2032259728
NM_005236.3(ERCC4):c.1289C>A (p.Ala430Asp)
NM_005236.3(ERCC4):c.1298T>G (p.Leu433Trp)
NM_005236.3(ERCC4):c.1339G>C (p.Glu447Gln)
NM_005236.3(ERCC4):c.1346T>C (p.Val449Ala)
NM_005236.3(ERCC4):c.1351A>G (p.Met451Val)
NM_005236.3(ERCC4):c.1366G>A (p.Glu456Lys)
NM_005236.3(ERCC4):c.1376C>T (p.Ser459Leu)
NM_005236.3(ERCC4):c.1391A>T (p.Lys464Ile) rs780488548
NM_005236.3(ERCC4):c.1400A>G (p.Lys467Arg)
NM_005236.3(ERCC4):c.1404A>C (p.Arg468Ser)
NM_005236.3(ERCC4):c.1432G>A (p.Ala478Thr) rs886051663
NM_005236.3(ERCC4):c.1459A>G (p.Lys487Glu)
NM_005236.3(ERCC4):c.1463A>G (p.Lys488Arg) rs886051664
NM_005236.3(ERCC4):c.1469G>A (p.Arg490Gln)
NM_005236.3(ERCC4):c.1477A>C (p.Thr493Pro)
NM_005236.3(ERCC4):c.1484C>T (p.Thr495Ile) rs2141607404
NM_005236.3(ERCC4):c.1488A>C (p.Gln496His) rs146601373
NM_005236.3(ERCC4):c.1489A>G (p.Met497Val) rs1057519202
NM_005236.3(ERCC4):c.1522G>A (p.Gly508Arg) rs2141607524
NM_005236.3(ERCC4):c.1523_1525del (p.Gly508del) rs1567247992
NM_005236.3(ERCC4):c.1541A>G (p.Tyr514Cys)
NM_005236.3(ERCC4):c.1553_1554del (p.Ile518fs) rs1567248043
NM_005236.3(ERCC4):c.1554A>G (p.Ile518Met)
NM_005236.3(ERCC4):c.1558_1563del (p.Ser520_Ser521del) rs2141607630
NM_005236.3(ERCC4):c.1559G>A (p.Ser520Asn)
NM_005236.3(ERCC4):c.1597G>A (p.Glu533Lys) rs2141607751
NM_005236.3(ERCC4):c.1622A>G (p.Asp541Gly)
NM_005236.3(ERCC4):c.1630T>C (p.Phe544Leu)
NM_005236.3(ERCC4):c.1633G>C (p.Gly545Arg)
NM_005236.3(ERCC4):c.1657A>G (p.Ile553Val) rs376216413
NM_005236.3(ERCC4):c.1662C>G (p.Ile554Met)
NM_005236.3(ERCC4):c.1681A>T (p.Ser561Cys) rs1443581940
NM_005236.3(ERCC4):c.1691A>G (p.Tyr564Cys) rs765254949
NM_005236.3(ERCC4):c.1693G>A (p.Ala565Thr)
NM_005236.3(ERCC4):c.1694C>T (p.Ala565Val)
NM_005236.3(ERCC4):c.1732G>A (p.Val578Met)
NM_005236.3(ERCC4):c.1739T>C (p.Leu580Pro) rs2032274770
NM_005236.3(ERCC4):c.1762G>A (p.Val588Ile)
NM_005236.3(ERCC4):c.1763T>C (p.Val588Ala)
NM_005236.3(ERCC4):c.1765C>G (p.Arg589Gly) rs147105770
NM_005236.3(ERCC4):c.1787C>T (p.Ala596Val)
NM_005236.3(ERCC4):c.1793G>A (p.Arg598Lys)
NM_005236.3(ERCC4):c.1799G>A (p.Gly600Glu) rs1336284412
NM_005236.3(ERCC4):c.1805C>T (p.Pro602Leu)
NM_005236.3(ERCC4):c.1811G>C (p.Arg604Thr)
NM_005236.3(ERCC4):c.1817A>T (p.Tyr606Phe)
NM_005236.3(ERCC4):c.1828T>C (p.Tyr610His)
NM_005236.3(ERCC4):c.1840A>G (p.Thr614Ala)
NM_005236.3(ERCC4):c.1845G>C (p.Glu615Asp) rs774347057
NM_005236.3(ERCC4):c.1852C>T (p.Arg618Cys)
NM_005236.3(ERCC4):c.1853G>T (p.Arg618Leu)
NM_005236.3(ERCC4):c.1856A>G (p.Tyr619Cys)
NM_005236.3(ERCC4):c.1861A>G (p.Thr621Ala) rs2032331839
NM_005236.3(ERCC4):c.1870C>A (p.Arg624=) rs766395322
NM_005236.3(ERCC4):c.1870C>T (p.Arg624Trp) rs766395322
NM_005236.3(ERCC4):c.1883A>C (p.Glu628Ala)
NM_005236.3(ERCC4):c.1900A>G (p.Ile634Val)
NM_005236.3(ERCC4):c.1902A>G (p.Ile634Met)
NM_005236.3(ERCC4):c.1903A>C (p.Arg635=)
NM_005236.3(ERCC4):c.1905-6C>G rs2141616963
NM_005236.3(ERCC4):c.1921G>C (p.Val641Leu) rs770771750
NM_005236.3(ERCC4):c.1923_1924delinsGT (p.Val642Phe)
NM_005236.3(ERCC4):c.194A>T (p.Gln65Leu)
NM_005236.3(ERCC4):c.1990G>A (p.Asp664Asn) rs1428509012
NM_005236.3(ERCC4):c.1997C>T (p.Ser666Phe)
NM_005236.3(ERCC4):c.1999A>G (p.Thr667Ala)
NM_005236.3(ERCC4):c.199G>A (p.Ala67Thr)
NM_005236.3(ERCC4):c.2000C>A (p.Thr667Asn)
NM_005236.3(ERCC4):c.2017G>A (p.Gly673Ser)
NM_005236.3(ERCC4):c.2026G>C (p.Glu676Gln) rs2141619663
NM_005236.3(ERCC4):c.2050A>G (p.Ile684Val)
NM_005236.3(ERCC4):c.2062A>T (p.Met688Leu)
NM_005236.3(ERCC4):c.207+5G>C rs766355378
NM_005236.3(ERCC4):c.207+6G>T rs2141937518
NM_005236.3(ERCC4):c.2075G>A (p.Arg692Gln)
NM_005236.3(ERCC4):c.208-3T>C rs773956647
NM_005236.3(ERCC4):c.208-3T>G
NM_005236.3(ERCC4):c.208G>A (p.Glu70Lys)
NM_005236.3(ERCC4):c.2104C>T (p.Arg702Trp)
NM_005236.3(ERCC4):c.2108G>T (p.Gly703Val) rs774900622
NM_005236.3(ERCC4):c.2110A>G (p.Ile704Val)
NM_005236.3(ERCC4):c.2114A>T (p.Asp705Val) rs2032542117
NM_005236.3(ERCC4):c.2123C>T (p.Pro708Leu)
NM_005236.3(ERCC4):c.2129C>A (p.Thr710Asn) rs1442567731
NM_005236.3(ERCC4):c.2143G>T (p.Asp715Tyr) rs2141619950
NM_005236.3(ERCC4):c.214T>C (p.Phe72Leu) rs2141939855
NM_005236.3(ERCC4):c.2164A>G (p.Met722Val) rs754771000
NM_005236.3(ERCC4):c.2177G>A (p.Arg726His) rs368096448
NM_005236.3(ERCC4):c.2191G>A (p.Asp731Asn)
NM_005236.3(ERCC4):c.2212A>G (p.Asn738Asp) rs2032546331
NM_005236.3(ERCC4):c.2227A>G (p.Ser743Gly)
NM_005236.3(ERCC4):c.2236A>G (p.Ile746Val) rs756050702
NM_005236.3(ERCC4):c.2249G>A (p.Arg750His) rs748870665
NM_005236.3(ERCC4):c.2252A>G (p.Tyr751Cys)
NM_005236.3(ERCC4):c.2277T>G (p.Ile759Met)
NM_005236.3(ERCC4):c.2283T>G (p.Phe761Leu) rs2141620363
NM_005236.3(ERCC4):c.2286C>G (p.Asp762Glu) rs1403769639
NM_005236.3(ERCC4):c.2291del (p.Ser764fs) rs2032549985
NM_005236.3(ERCC4):c.2303C>G (p.Ser768Cys) rs12928650
NM_005236.3(ERCC4):c.2308A>T (p.Thr770Ser) rs2032550979
NM_005236.3(ERCC4):c.2317G>C (p.Gly773Arg)
NM_005236.3(ERCC4):c.2334G>C (p.Glu778Asp) rs886051666
NM_005236.3(ERCC4):c.2357C>T (p.Ser786Phe) rs1451008479
NM_005236.3(ERCC4):c.2369T>C (p.Leu790Pro)
NM_005236.3(ERCC4):c.2369T>G (p.Leu790Arg)
NM_005236.3(ERCC4):c.2377C>G (p.Leu793Val)
NM_005236.3(ERCC4):c.2386C>A (p.Pro796Thr)
NM_005236.3(ERCC4):c.2387C>T (p.Pro796Leu) rs1303709169
NM_005236.3(ERCC4):c.2419C>A (p.His807Asn)
NM_005236.3(ERCC4):c.241G>A (p.Val81Ile) rs55761944
NM_005236.3(ERCC4):c.2448_2449insCAACAAAGCACAAAG (p.Leu816_Lys817insGlnGlnSerThrLys)
NM_005236.3(ERCC4):c.2449A>C (p.Lys817Gln)
NM_005236.3(ERCC4):c.2471A>T (p.Asp824Val)
NM_005236.3(ERCC4):c.2474C>T (p.Ala825Val) rs765253522
NM_005236.3(ERCC4):c.247C>T (p.His83Tyr)
NM_005236.3(ERCC4):c.2480C>A (p.Thr827Lys)
NM_005236.3(ERCC4):c.2491A>G (p.Ile831Val)
NM_005236.3(ERCC4):c.2504C>A (p.Ser835Tyr)
NM_005236.3(ERCC4):c.2505_2506inv (p.Glu836Lys)
NM_005236.3(ERCC4):c.250C>T (p.Leu84Phe) rs2141939932
NM_005236.3(ERCC4):c.2519A>C (p.Glu840Ala) rs761699907
NM_005236.3(ERCC4):c.2524G>T (p.Glu842Ter)
NM_005236.3(ERCC4):c.2539G>T (p.Gly847Cys)
NM_005236.3(ERCC4):c.2550CTT[1] (p.Phe851del) rs1567254204
NM_005236.3(ERCC4):c.2561A>G (p.Lys854Arg)
NM_005236.3(ERCC4):c.2575A>T (p.Asn859Tyr) rs2032559742
NM_005236.3(ERCC4):c.2585A>G (p.Asn862Ser)
NM_005236.3(ERCC4):c.2594C>T (p.Ser865Phe)
NM_005236.3(ERCC4):c.2603A>G (p.His868Arg) rs368064765
NM_005236.3(ERCC4):c.2612A>G (p.Lys871Arg)
NM_005236.3(ERCC4):c.2619C>G (p.Ile873Met) rs759042927
NM_005236.3(ERCC4):c.2620G>A (p.Ala874Thr) rs2032561804
NM_005236.3(ERCC4):c.2621C>T (p.Ala874Val) rs766946690
NM_005236.3(ERCC4):c.262G>A (p.Val88Ile)
NM_005236.3(ERCC4):c.2633C>T (p.Ala878Val)
NM_005236.3(ERCC4):c.2634_2637del (p.Leu879fs)
NM_005236.3(ERCC4):c.2641C>G (p.Gln881Glu)
NM_005236.3(ERCC4):c.2650C>T (p.Leu884Phe)
NM_005236.3(ERCC4):c.2654C>T (p.Thr885Met)
NM_005236.3(ERCC4):c.2656A>G (p.Ser886Gly)
NM_005236.3(ERCC4):c.2674G>A (p.Ala892Thr) rs2141621448
NM_005236.3(ERCC4):c.2707A>G (p.Thr903Ala)
NM_005236.3(ERCC4):c.2708C>G (p.Thr903Ser)
NM_005236.3(ERCC4):c.2726T>C (p.Val909Ala) rs2141621558
NM_005236.3(ERCC4):c.2738A>G (p.Lys913Arg) rs2032565777
NM_005236.3(ERCC4):c.2749T>C (p.Ter917Arg)
NM_005236.3(ERCC4):c.278C>T (p.Thr93Ile)
NM_005236.3(ERCC4):c.290G>A (p.Arg97His)
NM_005236.3(ERCC4):c.293A>G (p.Tyr98Cys)
NM_005236.3(ERCC4):c.313G>C (p.Gly105Arg)
NM_005236.3(ERCC4):c.314G>C (p.Gly105Ala)
NM_005236.3(ERCC4):c.317T>G (p.Val106Gly)
NM_005236.3(ERCC4):c.321A>G (p.Ile107Met)
NM_005236.3(ERCC4):c.336G>T (p.Arg112Ser)
NM_005236.3(ERCC4):c.404G>A (p.Arg135Lys) rs772606808
NM_005236.3(ERCC4):c.409C>G (p.His137Asp)
NM_005236.3(ERCC4):c.413G>A (p.Arg138Lys) rs1567243693
NM_005236.3(ERCC4):c.421G>A (p.Glu141Lys)
NM_005236.3(ERCC4):c.431A>G (p.Gln144Arg)
NM_005236.3(ERCC4):c.449G>C (p.Arg150Pro)
NM_005236.3(ERCC4):c.450_451delinsTT (p.Leu151Phe) rs2141944730
NM_005236.3(ERCC4):c.457C>T (p.Arg153Cys) rs1307031587
NM_005236.3(ERCC4):c.458G>A (p.Arg153His)
NM_005236.3(ERCC4):c.475G>A (p.Gly159Ser) rs181993439
NM_005236.3(ERCC4):c.476G>A (p.Gly159Asp)
NM_005236.3(ERCC4):c.484A>G (p.Lys162Glu) rs2032078220
NM_005236.3(ERCC4):c.499A>G (p.Asn167Asp) rs2032078374
NM_005236.3(ERCC4):c.503C>G (p.Ala168Gly) rs2020961
NM_005236.3(ERCC4):c.503C>T (p.Ala168Val) rs2020961
NM_005236.3(ERCC4):c.514G>C (p.Asp172His) rs1405781900
NM_005236.3(ERCC4):c.520G>A (p.Gly174Ser)
NM_005236.3(ERCC4):c.520G>C (p.Gly174Arg)
NM_005236.3(ERCC4):c.523T>G (p.Phe175Val)
NM_005236.3(ERCC4):c.529C>T (p.His177Tyr)
NM_005236.3(ERCC4):c.532G>A (p.Val178Met)
NM_005236.3(ERCC4):c.540_541del (p.Arg180fs) rs2032079495
NM_005236.3(ERCC4):c.550A>G (p.Asn184Asp)
NM_005236.3(ERCC4):c.553C>A (p.Leu185Ile)
NM_005236.3(ERCC4):c.576G>C (p.Leu192=) rs2141944936
NM_005236.3(ERCC4):c.580_584+1del rs776329282
NM_005236.3(ERCC4):c.584+1G>A rs2032080620
NM_005236.3(ERCC4):c.652A>G (p.Met218Val)
NM_005236.3(ERCC4):c.661A>G (p.Thr221Ala)
NM_005236.3(ERCC4):c.671C>T (p.Ala224Val) rs2141946160
NM_005236.3(ERCC4):c.685A>G (p.Ile229Val)
NM_005236.3(ERCC4):c.712A>G (p.Lys238Glu) rs2032105702
NM_005236.3(ERCC4):c.730A>C (p.Asn244His)
NM_005236.3(ERCC4):c.732C>G (p.Asn244Lys)
NM_005236.3(ERCC4):c.736T>A (p.Ser246Thr)
NM_005236.3(ERCC4):c.745G>T (p.Val249Leu)
NM_005236.3(ERCC4):c.751G>A (p.Asp251Asn) rs2032106630
NM_005236.3(ERCC4):c.769G>T (p.Ala257Ser) rs962536419
NM_005236.3(ERCC4):c.776G>A (p.Gly259Glu)
NM_005236.3(ERCC4):c.790A>G (p.Lys264Glu) rs1463126902
NM_005236.3(ERCC4):c.800G>A (p.Arg267His) rs143479220
NM_005236.3(ERCC4):c.800G>T (p.Arg267Leu) rs143479220
NM_005236.3(ERCC4):c.811G>T (p.Asp271Tyr)
NM_005236.3(ERCC4):c.820T>C (p.Trp274Arg)
NM_005236.3(ERCC4):c.823C>T (p.His275Tyr) rs2141948413
NM_005236.3(ERCC4):c.848C>A (p.Ser283Tyr)
NM_005236.3(ERCC4):c.870A>G (p.Ile290Met) rs1237587281
NM_005236.3(ERCC4):c.889T>A (p.Tyr297Asn) rs778480216
NM_005236.3(ERCC4):c.889T>C (p.Tyr297His)
NM_005236.3(ERCC4):c.890A>G (p.Tyr297Cys) rs996851583
NM_005236.3(ERCC4):c.891T>C (p.Tyr297=) rs886051660
NM_005236.3(ERCC4):c.913A>T (p.Thr305Ser) rs772385411
NM_005236.3(ERCC4):c.924T>A (p.Asn308Lys)
NM_005236.3(ERCC4):c.935C>G (p.Ser312Cys) rs886051661
NM_005236.3(ERCC4):c.937C>G (p.Leu313Val)
NM_005236.3(ERCC4):c.946A>G (p.Thr316Ala)
NM_005236.3(ERCC4):c.950A>G (p.Glu317Gly) rs773938568
NM_005236.3(ERCC4):c.961G>C (p.Gly321Arg)
NM_005236.3(ERCC4):c.979C>T (p.Leu327=) rs2141949782
NM_005236.3(ERCC4):c.985C>T (p.Leu329Phe)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.