List of variants reported as uncertain significance for Xeroderma pigmentosum by Illumina Laboratory Services, Illumina

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 32

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HGVS	dbSNP	gnomAD frequency
NM_006502.3(POLH):c.4531_4532del	rs767288700	0.00029
NM_000107.3(DDB2):c.-31G>C	rs375840702	0.00007
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.2161G>A (p.Glu721Lys)	rs886058048
NM_004628.5(XPC):c.537-16dup	rs755812525
NM_006502.3(POLH):c.2042_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.*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_177417.3(KLC3):c.66_67insT	rs886054493

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