ClinVar Miner

List of variants in gene combination BIVM-ERCC5, ERCC5 reported as benign for DNA repair disease

Included ClinVar conditions (106):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 26
Download table as spreadsheet
HGVS dbSNP
NM_000123.3(ERCC5):c.*84G>A rs873601
NM_000123.3(ERCC5):c.*89G>A rs4150390
NM_000123.3(ERCC5):c.-200G>C rs76752300
NM_000123.3(ERCC5):c.-242T>C rs2296147
NM_000123.3(ERCC5):c.-419A>G rs751402
NM_000123.3(ERCC5):c.-72C>T rs2296148
NM_000123.3(ERCC5):c.-74G>A rs3218736
NM_000123.3(ERCC5):c.138T>C (p.His46=) rs1047768
NM_000123.3(ERCC5):c.1440C>T (p.His480=) rs4150316
NM_000123.3(ERCC5):c.1586G>C (p.Cys529Ser) rs2227869
NM_000123.3(ERCC5):c.2100C>A (p.Leu700=) rs2228959
NM_000123.3(ERCC5):c.2636A>G (p.Asn879Ser) rs4150342
NM_000123.3(ERCC5):c.264+7G>A rs2020915
NM_000123.3(ERCC5):c.2879+14C>T rs4150360
NM_000123.3(ERCC5):c.3157= (p.Arg1053=) rs9514066
NM_000123.3(ERCC5):c.3239G>A (p.Arg1080Gln) rs4150388
NM_000123.3(ERCC5):c.3310G>C (p.Asp1104His) rs17655
NM_000123.3(ERCC5):c.429C>G (p.Leu143=) rs4140390
NM_000123.3(ERCC5):c.433G>A (p.Val145Ile) rs4987063
NM_000123.3(ERCC5):c.640C>T (p.Arg214Cys) rs56255799
NM_000123.3(ERCC5):c.641G>A (p.Arg214His) rs146833751
NM_000123.3(ERCC5):c.760A>G (p.Met254Val) rs1047769
NM_000123.3(ERCC5):c.767A>G (p.Gln256Arg) rs4150313
NM_000123.3(ERCC5):c.960C>T (p.Asp320=) rs4150314
NM_000123.4(ERCC5):c.1974A>G (p.Gln658=) rs55686372
NM_000123.4(ERCC5):c.2457G>A (p.Arg819=) rs73573973

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.