List of variants studied for embryonal neoplasm by Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 15

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_024426.6(WT1):c.216G>T (p.Gln72His)	rs5030135	0.00036
NM_004304.5(ALK):c.3383G>C (p.Gly1128Ala)	rs113994088
NM_004304.5(ALK):c.3520T>A (p.Phe1174Ile)	rs281864719
NM_004304.5(ALK):c.3520T>C (p.Phe1174Leu)	rs281864719
NM_004304.5(ALK):c.3520T>G (p.Phe1174Val)	rs281864719
NM_004304.5(ALK):c.3522C>A (p.Phe1174Leu)	rs863225281
NM_004304.5(ALK):c.3522C>G (p.Phe1174Leu)	rs863225281
NM_004304.5(ALK):c.3575G>C (p.Arg1192Pro)	rs113994089
NM_004304.5(ALK):c.3685G>A (p.Val1229Met)	rs776228721
NM_004304.5(ALK):c.3718T>G (p.Leu1240Val)	rs863225282
NM_004304.5(ALK):c.3733T>A (p.Phe1245Ile)	rs281864720
NM_004304.5(ALK):c.3734T>G (p.Phe1245Cys)	rs863225283
NM_004304.5(ALK):c.3735C>A (p.Phe1245Leu)	rs863225284
NM_004304.5(ALK):c.3824G>A (p.Arg1275Gln)	rs113994087
NM_004304.5(ALK):c.3833A>C (p.Tyr1278Ser)	rs863225285

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.