ClinVar Miner

List of variants reported as likely benign for Xeroderma pigmentosum by Sema4, Sema4

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ClinVar version:
Total variants: 119
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HGVS dbSNP gnomAD frequency
NM_005236.3(ERCC4):c.1135C>T (p.Pro379Ser) rs1799802 0.00471
NM_004628.5(XPC):c.2066C>T (p.Thr689Met) rs3731152 0.00315
NM_004628.5(XPC):c.2782A>C (p.Lys928Gln) rs3731177 0.00285
NM_000107.3(DDB2):c.1228G>A (p.Ala410Thr) rs143049891 0.00270
NM_000122.2(ERCC3):c.1008G>A (p.Gly336=) rs115924997 0.00248
NM_000400.4(ERCC2):c.699C>T (p.Phe233=) rs141816180 0.00248
NM_000400.4(ERCC2):c.687C>T (p.Ala229=) rs34021577 0.00234
NM_000122.2(ERCC3):c.2111C>T (p.Ser704Leu) rs4150521 0.00227
NM_005236.3(ERCC4):c.1812-5T>C rs2020952 0.00215
NM_006502.3(POLH):c.1572A>C (p.Gln524His) rs138752565 0.00198
NM_005236.3(ERCC4):c.2117T>C (p.Ile706Thr) rs1800069 0.00190
NM_006502.3(POLH):c.2024C>A (p.Ser675Tyr) rs151095678 0.00178
NM_000107.3(DDB2):c.127+5T>G rs199965459 0.00148
NM_000400.4(ERCC2):c.1632C>T (p.Tyr544=) rs147605089 0.00146
NM_000107.3(DDB2):c.644T>C (p.Met215Thr) rs4647750 0.00133
NM_004628.5(XPC):c.1497G>A (p.Ala499=) rs150344169 0.00123
NM_000380.4(XPA):c.700G>T (p.Val234Leu) rs3176749 0.00118
NM_000400.4(ERCC2):c.1789C>T (p.Leu597=) rs138038607 0.00113
NM_004628.5(XPC):c.2250+6G>A rs201446851 0.00111
NM_000400.4(ERCC2):c.1266C>T (p.Asp422=) rs142702501 0.00102
NM_005236.3(ERCC4):c.1563C>G (p.Ser521Arg) rs41552412 0.00099
NM_005236.3(ERCC4):c.974-6T>C rs201181735 0.00091
NM_000122.2(ERCC3):c.2080G>A (p.Ala694Thr) rs151216904 0.00085
NM_004628.5(XPC):c.2496T>C (p.Ile832=) rs201597537 0.00083
NM_000400.4(ERCC2):c.633C>T (p.Tyr211=) rs112910027 0.00073
NM_000400.4(ERCC2):c.138C>T (p.Thr46=) rs141391238 0.00068
NM_006502.3(POLH):c.815T>C (p.Ile272Thr) rs147712217 0.00055
NM_000122.2(ERCC3):c.2334G>A (p.Lys778=) rs147499527 0.00050
NM_000122.2(ERCC3):c.1528-9G>A rs368660980 0.00048
NM_006502.3(POLH):c.2028C>T (p.Ala676=) rs140971385 0.00045
NM_000400.4(ERCC2):c.1866C>T (p.Gly622=) rs16979773 0.00044
NM_004628.5(XPC):c.2088G>A (p.Val696=) rs182189497 0.00042
NM_000107.3(DDB2):c.1053T>C (p.Ile351=) rs61741581 0.00039
NM_004628.5(XPC):c.779+11C>T rs199838876 0.00033
NM_000400.4(ERCC2):c.545C>T (p.Ala182Val) rs142936491 0.00029
NM_006502.3(POLH):c.1299C>A (p.Ala433=) rs140331414 0.00029
NM_000400.4(ERCC2):c.1842C>T (p.Tyr614=) rs148319713 0.00025
NM_000122.2(ERCC3):c.2226G>A (p.Arg742=) rs376593226 0.00024
NM_000400.4(ERCC2):c.1278G>A (p.Pro426=) rs148469762 0.00023
NM_000400.4(ERCC2):c.1905G>A (p.Ala635=) rs145835916 0.00022
NM_000400.4(ERCC2):c.1119-5G>A rs369538318 0.00021
NM_005236.3(ERCC4):c.2694T>C (p.Tyr898=) rs138296474 0.00021
NM_005236.3(ERCC4):c.738G>A (p.Ser246=) rs146650135 0.00021
NM_006502.3(POLH):c.1473G>A (p.Gln491=) rs142864589 0.00021
NM_000122.2(ERCC3):c.2218-5G>A rs201054106 0.00016
NM_000400.4(ERCC2):c.601C>T (p.His201Tyr) rs1799792 0.00016
NM_000400.4(ERCC2):c.988C>T (p.Leu330=) rs146022050 0.00016
NM_000400.4(ERCC2):c.1518C>A (p.Ser506=) rs544159896 0.00015
NM_005236.3(ERCC4):c.2517C>T (p.Pro839=) rs200715555 0.00014
NM_000400.4(ERCC2):c.1815C>T (p.Ser605=) rs368708674 0.00012
NM_005236.3(ERCC4):c.2647G>A (p.Glu883Lys) rs201652412 0.00012
NM_000400.4(ERCC2):c.156G>A (p.Leu52=) rs202156896 0.00011
NM_000400.4(ERCC2):c.1962C>T (p.Phe654=) rs762985501 0.00011
NM_000400.4(ERCC2):c.297C>T (p.Gly99=) rs200953364 0.00010
NM_004628.5(XPC):c.413-4A>G rs367977379 0.00010
NM_000400.4(ERCC2):c.1903-11C>T rs370777762 0.00009
NM_004628.5(XPC):c.1509C>T (p.Ser503=) rs760867012 0.00009
NM_004628.5(XPC):c.2238C>T (p.Ala746=) rs375170067 0.00009
NM_005236.3(ERCC4):c.1983A>G (p.Ala661=) rs373237850 0.00009
NM_000122.2(ERCC3):c.1053G>C (p.Val351=) rs373666495 0.00008
NM_000122.2(ERCC3):c.1155C>T (p.Asp385=) rs371396764 0.00008
NM_000400.4(ERCC2):c.873G>A (p.Gly291=) rs552090174 0.00008
NM_004628.5(XPC):c.2730T>C (p.Asp910=) rs372394855 0.00007
NM_000107.3(DDB2):c.870T>C (p.Pro290=) rs376783024 0.00006
NM_000122.2(ERCC3):c.2106G>A (p.Ala702=) rs114508982 0.00006
NM_000122.2(ERCC3):c.429C>T (p.Leu143=) rs908044728 0.00006
NM_000400.4(ERCC2):c.1584C>A (p.Ser528=) rs199551160 0.00006
NM_004628.5(XPC):c.2067G>A (p.Thr689=) rs765391700 0.00006
NM_000107.3(DDB2):c.264+8A>G rs374094218 0.00004
NM_000400.4(ERCC2):c.1426G>A (p.Val476Ile) rs531021258 0.00004
NM_005236.3(ERCC4):c.906T>C (p.Asp302=) rs148003381 0.00004
NM_006502.3(POLH):c.1491G>A (p.Ser497=) rs145050695 0.00004
NM_000107.3(DDB2):c.930C>T (p.Ser310=) rs549041558 0.00003
NM_000122.2(ERCC3):c.1026C>T (p.Cys342=) rs752026166 0.00003
NM_000122.2(ERCC3):c.2218-6C>T rs200733704 0.00003
NM_000400.4(ERCC2):c.1146G>C (p.Leu382=) rs372468267 0.00003
NM_005236.3(ERCC4):c.2046A>G (p.Gln682=) rs565249189 0.00003
NM_000400.4(ERCC2):c.294G>C (p.Glu98Asp) rs145947678 0.00002
NM_004628.5(XPC):c.465A>G (p.Arg155=) rs370322435 0.00002
NM_006502.3(POLH):c.1406C>T (p.Ala469Val) rs200438344 0.00002
NM_006502.3(POLH):c.1833A>G (p.Lys611=) rs748367351 0.00002
NM_006502.3(POLH):c.1959T>C (p.Tyr653=) rs201357691 0.00002
NM_000107.3(DDB2):c.915C>G (p.Thr305=) rs758199547 0.00001
NM_000122.2(ERCC3):c.1371C>T (p.Ile457=) rs769083884 0.00001
NM_000122.2(ERCC3):c.1497T>C (p.Asn499=) rs1479882729 0.00001
NM_000122.2(ERCC3):c.1911C>G (p.Ala637=) rs1258857605 0.00001
NM_000380.4(XPA):c.429G>A (p.Glu143=) rs753411843 0.00001
NM_000400.4(ERCC2):c.284A>G (p.Glu95Gly) rs571718677 0.00001
NM_000400.4(ERCC2):c.978C>T (p.Ala326=) rs746258199 0.00001
NM_004628.5(XPC):c.1015T>C (p.Leu339=) rs1479935789 0.00001
NM_004628.5(XPC):c.1149G>A (p.Gly383=) rs761062571 0.00001
NM_004628.5(XPC):c.15C>T (p.Arg5=) rs773629528 0.00001
NM_004628.5(XPC):c.1647C>T (p.His549=) rs190103795 0.00001
NM_004628.5(XPC):c.507G>T (p.Thr169=) rs1286285107 0.00001
NM_005236.3(ERCC4):c.228G>A (p.Leu76=) rs61760162 0.00001
NM_000107.3(DDB2):c.540A>G (p.Thr180=) rs1440844986
NM_000122.2(ERCC3):c.111G>T (p.Ala37=) rs749971925
NM_000122.2(ERCC3):c.1449G>T (p.Leu483=) rs1684874632
NM_000122.2(ERCC3):c.1947G>A (p.Gly649=) rs1218748702
NM_000122.2(ERCC3):c.2112G>A (p.Ser704=) rs114710997
NM_000122.2(ERCC3):c.2112G>T (p.Ser704=) rs114710997
NM_000122.2(ERCC3):c.411C>G (p.Thr137=) rs774188273
NM_000122.2(ERCC3):c.882A>G (p.Glu294=) rs1486201257
NM_000380.4(XPA):c.15C>T (p.Asp5=) rs553043532
NM_000380.4(XPA):c.174C>A (p.Gly58=) rs748832661
NM_000380.4(XPA):c.219A>C (p.Gly73=) rs927707804
NM_000380.4(XPA):c.33G>T (p.Ala11=) rs778465643
NM_000380.4(XPA):c.674-12dup rs770101529
NM_004628.5(XPC):c.1000C>T (p.Pro334Ser) rs200338014
NM_005236.3(ERCC4):c.1788G>T (p.Ala596=) rs374303503
NM_005236.3(ERCC4):c.975T>G (p.Gly325=) rs1192175161
NM_006502.3(POLH):c.1000C>G (p.Arg334Gly) rs9333548
NM_006502.3(POLH):c.1247CTC[2] (p.Pro418del) rs747834463
NM_006502.3(POLH):c.1656C>G (p.Pro552=) rs148589983
NM_006502.3(POLH):c.1896A>G (p.Gln632=) rs139476900
NM_006502.3(POLH):c.1977G>A (p.Leu659=) rs1768186117
NM_006502.3(POLH):c.424T>C (p.Leu142=) rs997248275
NM_006502.3(POLH):c.723G>A (p.Gly241=) rs781009488
NM_006502.3(POLH):c.884+20dup rs199876593

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