List of variants in gene RECQL4 reported as uncertain significance by Eurofins NTD LLC (GA)

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: 29

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_004260.4(RECQL4):c.308C>T (p.Pro103Leu)	rs199543866	0.00082
NM_004260.4(RECQL4):c.3600G>A (p.Thr1200=)	rs35225938	0.00064
NM_004260.4(RECQL4):c.2543G>A (p.Arg848His)	rs368989729	0.00049
NM_004260.4(RECQL4):c.2967G>A (p.Met989Ile)	rs200018416	0.00031
NM_004260.4(RECQL4):c.1872C>T (p.Val624=)	rs201815449	0.00026
NM_004260.4(RECQL4):c.1159G>A (p.Gly387Arg)	rs202043854	0.00024
NM_004260.4(RECQL4):c.2545G>A (p.Val849Met)	rs201661055	0.00019
NM_004260.4(RECQL4):c.1391-4G>T	rs190388213	0.00016
NM_004260.4(RECQL4):c.1685G>A (p.Arg562Gln)	rs375562152	0.00016
NM_004260.4(RECQL4):c.2728G>A (p.Val910Ile)	rs374225917	0.00013
NM_004260.4(RECQL4):c.2538A>G (p.Val846=)	rs746303718	0.00009
NM_004260.4(RECQL4):c.1151G>A (p.Arg384Gln)	rs376045624	0.00008
NM_004260.4(RECQL4):c.862G>A (p.Gly288Arg)	rs199706417	0.00006
NM_004260.4(RECQL4):c.1570C>T (p.Pro524Ser)	rs374965803	0.00004
NM_004260.4(RECQL4):c.1789C>T (p.Pro597Ser)	rs764839023	0.00004
NM_004260.4(RECQL4):c.431G>A (p.Gly144Asp)	rs758010588	0.00004
NM_004260.4(RECQL4):c.1124G>A (p.Arg375His)	rs398124115	0.00002
NM_004260.4(RECQL4):c.1936C>T (p.Arg646Cys)	rs398124116	0.00002
NM_004260.4(RECQL4):c.2416G>A (p.Gly806Arg)	rs767102398	0.00002
NM_004260.4(RECQL4):c.836G>A (p.Ser279Asn)	rs780327528	0.00002
NM_004260.4(RECQL4):c.969C>T (p.Ser323=)	rs745658597	0.00002
NM_004260.4(RECQL4):c.2585C>T (p.Ser862Leu)	rs781636798	0.00001
NM_004260.4(RECQL4):c.2976G>C (p.Leu992=)	rs775795557	0.00001
NM_004260.4(RECQL4):c.3246C>T (p.Phe1082=)	rs748604051	0.00001
NM_004260.4(RECQL4):c.1573T>C (p.Cys525Arg)	rs886043101
NM_004260.4(RECQL4):c.213+6del	rs535285068
NM_004260.4(RECQL4):c.3128T>A (p.Leu1043Ter)	rs398124118
NM_004260.4(RECQL4):c.3424G>C (p.Asp1142His)	rs61755067
NM_004260.4(RECQL4):c.3624C>A (p.Arg1208=)	rs56341125

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.