List of variants reported as risk factor for embryonal neoplasm

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: 9

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_004304.5(ALK):c.3452C>T (p.Thr1151Met)	rs113994091	0.00004
NM_005612.5(REST):c.831_832del (p.Cys278fs)	rs869025310	0.00001
NM_005612.5(REST):c.965A>G (p.His322Arg)	rs869025312	0.00001
NM_003924.4(PHOX2B):c.299G>T (p.Arg100Leu)	rs104893855
NM_003924.4(PHOX2B):c.590G>A (p.Gly197Asp)	rs104893856
NM_004304.5(ALK):c.3383G>C (p.Gly1128Ala)	rs113994088
NM_004304.5(ALK):c.3575G>C (p.Arg1192Pro)	rs113994089
NM_004304.5(ALK):c.3824G>A (p.Arg1275Gln)	rs113994087
NM_005612.5(REST):c.773_776del (p.Val258fs)	rs869025311

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.