List of variants reported as benign for Van der Woude syndrome 2 by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 28

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NC_000001.11:g.24364274T>A	rs545809	0.26083
NM_198173.3(GRHL3):c.1746C>T (p.Val582=)	rs12030057	0.24193
NM_198173.3(GRHL3):c.1110C>G (p.Val370=)	rs11576645	0.17876
NM_198173.3(GRHL3):c.165C>G (p.Asp55Glu)	rs2486668	0.17201
NM_198173.3(GRHL3):c.479T>C (p.Val160Ala)	rs34637004	0.03450
NM_198173.3(GRHL3):c.1451A>G (p.Asn484Ser)	rs116396279	0.03385
NM_198174.3(GRHL3):c.1696G>A (p.Glu566Lys)	rs6694170	0.03111
NM_198173.3(GRHL3):c.1361C>T (p.Thr454Met)	rs41268753	0.02239
NM_198173.3(GRHL3):c.1439C>A (p.Pro480His)	rs142369311	0.01091
NM_198173.3(GRHL3):c.686+13C>T	rs41268749	0.01043
NM_198173.3(GRHL3):c.1368C>T (p.Pro456=)	rs114678222	0.01024
NM_198173.3(GRHL3):c.800C>G (p.Ala267Gly)	rs34593559	0.00737
NM_198173.3(GRHL3):c.1363C>G (p.Pro455Ala)	rs141193530	0.00535
NM_198173.3(GRHL3):c.1430C>T (p.Ser477Leu)	rs114518869	0.00431
NM_198173.3(GRHL3):c.507T>C (p.Asp169=)	rs35868286	0.00307
NM_198173.3(GRHL3):c.471C>T (p.Ala157=)	rs139093980	0.00185
NM_198173.3(GRHL3):c.1385A>G (p.Asn462Ser)	rs143169996	0.00100
NM_198173.3(GRHL3):c.781G>A (p.Val261Ile)	rs145470039	0.00098
NM_198174.3(GRHL3):c.1718G>A (p.Arg573His)	rs151326764	0.00082
NM_198174.3(GRHL3):c.1767G>A (p.Val589=)	rs200103413	0.00071
NM_198173.3(GRHL3):c.1469G>A (p.Arg490His)	rs138381915	0.00058
NM_198173.3(GRHL3):c.606A>T (p.Pro202=)	rs144957254	0.00048
NM_198173.3(GRHL3):c.1047+9T>G	rs201436767	0.00040
NM_198173.3(GRHL3):c.612+9G>A	rs201895291	0.00033
NM_198173.3(GRHL3):c.205-3C>A	rs200425622	0.00030
NM_198173.3(GRHL3):c.221G>A (p.Arg74Gln)	rs534391501	0.00018
NM_198173.3(GRHL3):c.204+13C>G	rs6660854
NM_198173.3(GRHL3):c.204+14del	rs767057383

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.