ClinVar Miner

List of variants in gene RECQL4 studied for Rapadilino syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 29
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004260.4(RECQL4):c.3127T>C (p.Leu1043=) rs4925828 0.98841
NM_004260.4(RECQL4):c.274T>C (p.Ser92Pro) rs2721190 0.98532
NM_004260.4(RECQL4):c.801G>C (p.Glu267Asp) rs4244612 0.41942
NM_004260.4(RECQL4):c.3236+13C>T rs4244610 0.41215
NM_004260.4(RECQL4):c.1258+18G>A rs4251689 0.38613
NM_004260.4(RECQL4):c.3393+8C>T rs756627 0.37589
NM_004260.4(RECQL4):c.1621-15C>T rs4244611 0.37577
NM_004260.4(RECQL4):c.3014G>A (p.Arg1005Gln) rs4251691 0.36660
NM_004260.4(RECQL4):c.3502+24G>A rs2279243 0.36505
NM_004260.4(RECQL4):c.738C>T (p.Ser246=) rs4244613 0.36043
NM_004260.4(RECQL4):c.1390+2del rs386833843 0.00043
NM_004260.4(RECQL4):c.1576C>T (p.Leu526Phe) rs200732690 0.00041
NM_004260.4(RECQL4):c.1573del (p.Cys525fs) rs386833845 0.00033
NM_004260.4(RECQL4):c.3072del (p.Val1026fs) rs386833852 0.00005
NM_004260.4(RECQL4):c.2476C>T (p.Arg826Ter) rs386833851 0.00004
NM_004260.4(RECQL4):c.3072_3073del (p.Val1026fs) rs771538008 0.00004
NM_004260.4(RECQL4):c.1910T>C (p.Phe637Ser) rs386833848 0.00003
NM_004260.4(RECQL4):c.2492_2493del (p.His831fs) rs752729755 0.00003
NM_004260.4(RECQL4):c.1397C>T (p.Pro466Leu) rs386833844 0.00001
NM_004260.4(RECQL4):c.2059-1G>A rs386833849 0.00001
NM_004260.4(RECQL4):c.1885_1888del (p.Arg629fs) rs386833846
NM_004260.4(RECQL4):c.1887_1890del (p.Glu630fs) rs386833847
NM_004260.4(RECQL4):c.2091T>G (p.Phe697Leu) rs386833850
NM_004260.4(RECQL4):c.2296del (p.Arg766fs) rs1827625671
NM_004260.4(RECQL4):c.3214A>T (p.Arg1072Ter) rs386833853
NM_004260.4(RECQL4):c.3271C>T (p.Gln1091Ter) rs137853230
NM_004260.4(RECQL4):c.3561C>G (p.Tyr1187Ter)
NM_004260.4(RECQL4):c.3599_3600del (p.Thr1200fs) rs386833854
NM_004260.4(RECQL4):c.806G>A (p.Trp269Ter) rs137853231

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.