ClinVar Miner

List of variants studied for Xeroderma pigmentosum by Illumina Laboratory Services, Illumina

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Total variants: 59
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HGVS dbSNP gnomAD frequency
NM_024334.3(TMEM43):c.*115T>C rs1043943 0.65275
NM_004628.5(XPC):c.2815C>A (p.Gln939Lys) rs2228001 0.64910
NM_004628.5(XPC):c.*96C>G rs2229090 0.22357
NM_024334.3(TMEM43):c.*779A>C rs13069 0.19544
NM_024334.3(TMEM43):c.*1424T>C rs10468 0.19535
NM_004628.5(XPC):c.*618A>G rs2470458 0.16965
NM_024334.3(TMEM43):c.*1374T>C rs8516 0.16859
NM_024334.3(TMEM43):c.*463A>G rs1043953 0.15711
NM_024334.3(TMEM43):c.*719G>T rs3796308 0.05531
NM_024334.3(TMEM43):c.*312A>C rs11920099 0.04223
NM_001204425.2(BIVM-ERCC5):c.1450+6027C>A rs4150248 0.03070
NM_024334.3(TMEM43):c.*277C>T rs11943 0.03059
NM_024334.3(TMEM43):c.*924T>C rs79741000 0.02523
NM_024334.3(TMEM43):c.*217G>A rs116757981 0.02517
NM_006502.3(POLH):c.*1563dup rs201071335 0.01967
NM_001204425.2(BIVM-ERCC5):c.1450+6024A>C rs74109690 0.01436
NM_024334.3(TMEM43):c.*1160A>G rs9842062 0.01099
NM_004628.5(XPC):c.*192T>C rs3731178 0.01085
NM_000122.2(ERCC3):c.-98A>G rs4150398 0.00933
NM_006502.3(POLH):c.*4531_*4532del rs767288700 0.00029
NM_000107.3(DDB2):c.-31G>C rs375840702 0.00007
NM_004628.5(XPC):c.2421-11T>C rs3731167 0.00005
NM_000122.2(ERCC3):c.279C>T (p.Tyr93=) rs146938627 0.00004
NM_000380.4(XPA):c.390-13A>C rs373762653 0.00004
NM_004628.5(XPC):c.*133G>A rs377250919 0.00004
NM_004628.5(XPC):c.*411dup rs886058047 0.00004
NM_000122.2(ERCC3):c.2105C>T (p.Ala702Val) rs563550613 0.00003
NM_004628.5(XPC):c.*428G>A rs886058046 0.00003
NM_000107.3(DDB2):c.1234+9G>A rs756484790 0.00001
NM_006502.3(POLH):c.*1219A>T rs886061447 0.00001
NM_006502.3(POLH):c.1266T>C (p.Leu422=) rs758340317 0.00001
NM_000107.3(DDB2):c.*334_*335del rs4647761
NM_000122.2(ERCC3):c.*242dup rs576058879
NM_000380.4(XPA):c.*234_*235del rs568435573
NM_004628.5(XPC):c.*611T>A rs2470352
NM_004628.5(XPC):c.*684G>C rs1126547
NM_004628.5(XPC):c.2161G>A (p.Glu721Lys) rs886058048
NM_004628.5(XPC):c.537-16dup rs755812525
NM_005236.3(ERCC4):c.*2577del rs61422086
NM_005236.3(ERCC4):c.*3953del rs397778750
NM_006502.3(POLH):c.*2042_*2043dup rs368089629
NM_006502.3(POLH):c.*2043dup rs368089629
NM_006502.3(POLH):c.*2812_*2820delinsCC rs886061460
NM_006502.3(POLH):c.*3051_*3052del rs568828810
NM_006502.3(POLH):c.*4388TATTT[1] rs565512423
NM_006502.3(POLH):c.*4413_*4414dup rs55760315
NM_006502.3(POLH):c.*4414del rs55760315
NM_006502.3(POLH):c.*4414dup rs55760315
NM_006502.3(POLH):c.*4806del rs886061469
NM_006502.3(POLH):c.*4807del rs886061470
NM_006502.3(POLH):c.*4837dup rs60046548
NM_006502.3(POLH):c.*5071AG[2] rs886061473
NM_006502.3(POLH):c.*5142_*5146del rs886061474
NM_006502.3(POLH):c.*5936del rs200163087
NM_006502.3(POLH):c.-87del rs886061432
NM_006502.3(POLH):c.1247CTC[2] (p.Pro418del) rs747834463
NM_006502.3(POLH):c.1870C>G (p.Pro624Ala) rs886061437
NM_024334.3(TMEM43):c.*766CAAAA[1] rs141474582
NM_177417.3(KLC3):c.*66_*67insT rs886054493

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