List of variants in gene combination BIVM-ERCC5, ERCC5 reported as pathogenic for autosomal recessive disease

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 17

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000123.4(ERCC5):c.2620G>A (p.Ala874Thr)	rs121434576	0.00004
NM_000123.4(ERCC5):c.2878G>T (p.Glu960Ter)	rs121434570	0.00003
NM_000123.4(ERCC5):c.526C>T (p.Gln176Ter)	rs121434573	0.00001
NM_000123.4(ERCC5):c.787C>T (p.Arg263Ter)	rs121434572	0.00001
NM_000123.4(ERCC5):c.1115_1118del (p.Arg372fs)	rs786200919
NM_000123.4(ERCC5):c.1494del (p.Asp499fs)	rs786200920
NM_000123.4(ERCC5):c.1855C>T (p.Gln619Ter)	rs1882701423
NM_000123.4(ERCC5):c.1975del (p.Ser659fs)	rs1882806435
NM_000123.4(ERCC5):c.215C>A (p.Pro72His)	rs121434574
NM_000123.4(ERCC5):c.2573T>C (p.Leu858Pro)	rs121434575
NM_000123.4(ERCC5):c.2751del (p.Lys917fs)	rs752661599
NM_000123.4(ERCC5):c.2766dup (p.Leu923fs)	rs760232640
NM_000123.4(ERCC5):c.2775del (p.Gly926fs)	rs2140538834
NM_000123.4(ERCC5):c.2904G>C (p.Trp968Cys)	rs267607280
NM_000123.4(ERCC5):c.406C>T (p.Gln136Ter)	rs121434577
NM_000123.4(ERCC5):c.83C>A (p.Ala28Asp)	rs267607281
NM_000123.4(ERCC5):c.840_841dup (p.Val281fs)	rs1595382501

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.