List of variants studied for DNA repair disease by Genome Diagnostics Laboratory, Amsterdam University Medical Center

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 17

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000123.4(ERCC5):c.1586G>C (p.Cys529Ser)	rs2227869	0.04366
NM_000123.4(ERCC5):c.1440C>T (p.His480=)	rs4150316	0.03429
NM_000123.4(ERCC5):c.767A>G (p.Gln256Arg)	rs4150313	0.02531
NM_000135.4(FANCA):c.3859G>A (p.Val1287Ile)	rs17227354	0.02526
NM_000123.4(ERCC5):c.429C>G (p.Leu143=)	rs4140390	0.02517
NM_000123.4(ERCC5):c.760A>G (p.Met254Val)	rs1047769	0.02485
NM_000123.4(ERCC5):c.960C>T (p.Asp320=)	rs4150314	0.00931
NM_000123.4(ERCC5):c.945C>T (p.His315=)	rs34061299	0.00370
NM_005732.4(RAD50):c.280A>C (p.Ile94Leu)	rs28903085	0.00300
NM_000123.4(ERCC5):c.2778C>G (p.Gly926=)	rs9518857	0.00270
NM_006502.3(POLH):c.626G>T (p.Gly209Val)	rs2307456	0.00253
NM_000123.4(ERCC5):c.3177C>T (p.Gly1059=)	rs148856875	0.00196
NM_000123.4(ERCC5):c.1789G>C (p.Val597Leu)	rs4150319	0.00158
NM_000123.4(ERCC5):c.2818G>A (p.Val940Met)	rs146344855	0.00113
NM_000123.4(ERCC5):c.1110T>A (p.Arg370=)	rs150791877	0.00094
NM_000123.4(ERCC5):c.2353C>T (p.Gln785Ter)	rs1244074570
NM_006502.3(POLH):c.1247CTC[2] (p.Pro418del)	rs747834463

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.