List of variants in gene NTHL1 reported as not provided by GenomeConnect - Invitae Patient Insights Network

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: 9

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_002528.7(NTHL1):c.244C>T (p.Gln82Ter)	rs150766139	0.00138
NM_002528.7(NTHL1):c.835C>T (p.Gln279Ter)	rs146347092	0.00023
NM_002528.7(NTHL1):c.149C>T (p.Pro50Leu)	rs139165943	0.00019
NM_002528.7(NTHL1):c.763C>T (p.Arg255Cys)	rs779992803	0.00005
NM_002528.7(NTHL1):c.445C>T (p.Arg149Trp)	rs376048896	0.00004
NM_002528.7(NTHL1):c.169C>T (p.Arg57Cys)	rs767591879	0.00003
NM_002528.7(NTHL1):c.680G>A (p.Gly227Asp)	rs1055874267	0.00001
NM_002528.7(NTHL1):c.172G>T (p.Val58Leu)	rs1177326558
NM_002528.7(NTHL1):c.574T>G (p.Tyr192Asp)	rs2084300211

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.