ClinVar Miner

List of variants reported as uncertain significance for Xeroderma pigmentosum, group F

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ClinVar version:
Total variants: 115
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HGVS dbSNP gnomAD frequency
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.16C>T (p.Pro6Ser) rs61760160 0.00056
NM_005236.3(ERCC4):c.*1858C>T rs775803860 0.00046
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.*2255G>A rs886051675 0.00025
NM_005236.3(ERCC4):c.*384A>G rs886051668 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.*1981C>T rs1047686990 0.00015
NM_005236.3(ERCC4):c.*1774C>T rs772694607 0.00013
NM_005236.3(ERCC4):c.*1256G>C rs373479879 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.1676G>A (p.Gly559Asp) rs370896187 0.00009
NM_005236.3(ERCC4):c.*411C>T rs141279442 0.00008
NM_005236.3(ERCC4):c.1284G>A (p.Ala428=) rs3136151 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.145C>T (p.Leu49Phe) rs552142099 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.2725G>A (p.Val909Ile) rs140726146 0.00006
NM_005236.3(ERCC4):c.*106A>G rs983200560 0.00005
NM_005236.3(ERCC4):c.*3044A>C rs886051679 0.00004
NM_005236.3(ERCC4):c.1917C>A (p.Ser639Arg) rs377213481 0.00004
NM_005236.3(ERCC4):c.*1463C>T rs886051671 0.00003
NM_005236.3(ERCC4):c.1942G>A (p.Gly648Ser) rs369471816 0.00003
NM_005236.3(ERCC4):c.79C>T (p.Leu27Phe) rs587778282 0.00003
NM_005236.3(ERCC4):c.*3443G>A rs1023910862 0.00002
NM_005236.3(ERCC4):c.105C>T (p.Cys35=) rs762885804 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.472C>T (p.Arg158Cys) rs746296279 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.1217A>G (p.Gln406Arg) rs762147159 0.00001
NM_005236.3(ERCC4):c.1493T>C (p.Val498Ala) rs373587423 0.00001
NM_005236.3(ERCC4):c.1647A>C (p.Glu549Asp) rs886051665 0.00001
NM_005236.3(ERCC4):c.2065C>T (p.Arg689Cys) rs149364215 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.228G>A (p.Leu76=) rs61760162 0.00001
NM_005236.3(ERCC4):c.2500G>T (p.Asp834Tyr) rs138583819 0.00001
NM_005236.3(ERCC4):c.275T>G (p.Ile92Ser) rs556330628 0.00001
NM_005236.3(ERCC4):c.367A>G (p.Ile123Val) rs144666685 0.00001
NM_005236.3(ERCC4):c.473G>A (p.Arg158His) rs1012646362 0.00001
NM_005236.3(ERCC4):c.61C>G (p.Gln21Glu) rs748499820 0.00001
NM_005236.3(ERCC4):c.728A>G (p.His243Arg) rs144608823 0.00001
NM_005236.3(ERCC4):c.840G>A (p.Lys280=) rs886051659 0.00001
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.1112A>G (p.Lys371Arg) rs886051662
NM_005236.3(ERCC4):c.12G>A (p.Gly4=) rs781417413
NM_005236.3(ERCC4):c.1366G>A (p.Glu456Lys)
NM_005236.3(ERCC4):c.1432G>A (p.Ala478Thr) rs886051663
NM_005236.3(ERCC4):c.1463A>G (p.Lys488Arg) rs886051664
NM_005236.3(ERCC4):c.1488A>C (p.Gln496His) rs146601373
NM_005236.3(ERCC4):c.1662C>G (p.Ile554Met)
NM_005236.3(ERCC4):c.1793G>A (p.Arg598Lys)
NM_005236.3(ERCC4):c.194A>T (p.Gln65Leu)
NM_005236.3(ERCC4):c.2334G>C (p.Glu778Asp) rs886051666
NM_005236.3(ERCC4):c.2519A>C (p.Glu840Ala) rs761699907
NM_005236.3(ERCC4):c.2594C>T (p.Ser865Phe)
NM_005236.3(ERCC4):c.41C>G (p.Pro14Arg) rs754622238
NM_005236.3(ERCC4):c.476G>A (p.Gly159Asp)
NM_005236.3(ERCC4):c.891T>C (p.Tyr297=) rs886051660
NM_005236.3(ERCC4):c.935C>G (p.Ser312Cys) rs886051661
NM_005236.3(ERCC4):c.961G>C (p.Gly321Arg)

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