List of variants in gene NTHL1 reported by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 16

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_002528.7(NTHL1):c.113C>T (p.Ala38Val)	rs202082304	0.00305
NM_002528.7(NTHL1):c.503T>C (p.Ile168Thr)	rs1805378	0.00155
NM_002528.7(NTHL1):c.244C>T (p.Gln82Ter)	rs150766139	0.00138
NM_002528.7(NTHL1):c.274C>T (p.Arg92Cys)	rs148104494	0.00086
NM_002528.7(NTHL1):c.44T>C (p.Leu15Pro)	rs781328762	0.00010
NM_002528.7(NTHL1):c.607C>T (p.Leu203=)	rs369076851	0.00009
NM_002528.7(NTHL1):c.37C>T (p.Arg13Trp)	rs3087469	0.00007
NM_002528.7(NTHL1):c.348C>A (p.Pro116=)	rs145185932	0.00004
NM_002528.7(NTHL1):c.445C>T (p.Arg149Trp)	rs376048896	0.00004
NM_002528.7(NTHL1):c.513C>T (p.Val171=)	rs140211154	0.00002
NM_002528.7(NTHL1):c.80A>G (p.Glu27Gly)	rs762937286	0.00002
NM_002528.7(NTHL1):c.491T>C (p.Leu164Pro)	rs1162857718	0.00001
NM_002528.7(NTHL1):c.882C>G (p.Asn294Lys)	rs759356343	0.00001
NM_002528.7(NTHL1):c.211dup (p.Ala71fs)	rs745671590
NM_002528.7(NTHL1):c.264G>T (p.Leu88=)	rs1009261529
NM_002528.7(NTHL1):c.354+7A>T

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.