ClinVar Miner

List of variants in gene RECQL4 reported by OMIM

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 14
Download table as spreadsheet
NM_004260.3(RECQL4):c.1391-1G>A rs117642173
NM_004260.3(RECQL4):c.1573del (p.Cys525fs) rs386833845
NM_004260.3(RECQL4):c.1650_1656del (p.Ala551fs) rs786200887
NM_004260.3(RECQL4):c.1704+1G>A rs760363252
NM_004260.3(RECQL4):c.1919_1924del (p.Leu640_Ala642delinsPro) rs786200890
NM_004260.3(RECQL4):c.2059-1G>C rs386833849
NM_004260.3(RECQL4):c.2059-1G>T rs386833849
NM_004260.3(RECQL4):c.2269C>T (p.Gln757Ter) rs137853229
NM_004260.3(RECQL4):c.2492_2493del (p.His831fs) rs752729755
NM_004260.3(RECQL4):c.3056-2A>C rs786200889
NM_004260.3(RECQL4):c.3061C>T (p.Arg1021Trp) rs137853232
NM_004260.3(RECQL4):c.806G>A (p.Trp269Ter) rs137853231
RECQL4, IVS7, 1-BP DEL, +2

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.