List of variants in gene RECQL4 reported by Mendelics

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: 7

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_004260.4(RECQL4):c.1704+9C>T	rs35876881	0.00365
NM_004260.4(RECQL4):c.1954G>A (p.Val652Met)	rs61754061	0.00285
NM_004260.4(RECQL4):c.308C>T (p.Pro103Leu)	rs199543866	0.00082
NM_004260.4(RECQL4):c.3143A>G (p.Lys1048Arg)	rs202203322	0.00044
NM_004260.4(RECQL4):c.2351G>A (p.Arg784Gln)	rs536096413	0.00020
NM_004260.4(RECQL4):c.1397C>T (p.Pro466Leu)	rs386833844	0.00001
NM_004260.4(RECQL4):c.2518del (p.Leu840fs)	rs2130673117

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.