ClinVar Miner

List of variants in gene BIVM-ERCC5, ERCC5 studied for Cockayne syndrome

Included ClinVar conditions (17):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 33
Download table as spreadsheet
HGVS dbSNP
NM_000123.3(ERCC5):c.1110T>A (p.Arg370=) rs150791877
NM_000123.3(ERCC5):c.1115_1118del (p.Arg372fs) rs786200919
NM_000123.3(ERCC5):c.1129del (p.Ala377fs) rs1341902350
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.1494del (p.Asp499fs) rs786200920
NM_000123.3(ERCC5):c.1586G>C (p.Cys529Ser) rs2227869
NM_000123.3(ERCC5):c.1789G>C (p.Val597Leu) rs4150319
NM_000123.3(ERCC5):c.215C>A (p.Pro72His) rs121434574
NM_000123.3(ERCC5):c.2281G>A (p.Ala761Thr) rs142438319
NM_000123.3(ERCC5):c.2353C>T (p.Gln785Ter) rs1244074570
NM_000123.3(ERCC5):c.2375C>T (p.Ala792Val) rs121434571
NM_000123.3(ERCC5):c.2573T>C (p.Leu858Pro) rs121434575
NM_000123.3(ERCC5):c.2620G>A (p.Ala874Thr) rs121434576
NM_000123.3(ERCC5):c.2751del (p.Lys917fs) rs752661599
NM_000123.3(ERCC5):c.2766dup (p.Leu923fs) rs760232640
NM_000123.3(ERCC5):c.2778C>G (p.Gly926=) rs9518857
NM_000123.3(ERCC5):c.2818G>A (p.Val940Met) rs146344855
NM_000123.3(ERCC5):c.2878G>T (p.Glu960Ter) rs121434570
NM_000123.3(ERCC5):c.2879+14C>T rs4150360
NM_000123.3(ERCC5):c.2904G>C (p.Trp968Cys) rs267607280
NM_000123.3(ERCC5):c.3177C>T (p.Gly1059=) rs148856875
NM_000123.3(ERCC5):c.3238C>T (p.Arg1080Ter) rs9514067
NM_000123.3(ERCC5):c.3310G>C (p.Asp1104His) rs17655
NM_000123.3(ERCC5):c.406C>T (p.Gln136Ter) rs121434577
NM_000123.3(ERCC5):c.429C>G (p.Leu143=) rs4140390
NM_000123.3(ERCC5):c.526C>T (p.Gln176Ter) rs121434573
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.787C>T (p.Arg263Ter) rs121434572
NM_000123.3(ERCC5):c.83C>A (p.Ala28Asp) rs267607281
NM_000123.3(ERCC5):c.945C>T (p.His315=) rs34061299
NM_000123.3(ERCC5):c.960C>T (p.Asp320=) rs4150314

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.