List of variants studied for central nervous system sarcoma by Mendelics

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

Total variants: 9

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_003072.5(SMARCA4):c.2275-3C>A	rs117611401	0.00243
NM_003072.5(SMARCA4):c.1419+9C>T	rs374635008	0.00128
NM_003072.5(SMARCA4):c.76G>A (p.Ala26Thr)	rs145867502	0.00116
NM_003072.5(SMARCA4):c.4179G>A (p.Glu1393=)	rs201879930	0.00030
NM_003072.5(SMARCA4):c.305G>T (p.Gly102Val)	rs746602808	0.00001
NM_003072.5(SMARCA4):c.-32+34C>T	rs1351249230
NM_003072.5(SMARCA4):c.1351C>T (p.Arg451Cys)	rs2086534839
NM_003072.5(SMARCA4):c.2156G>A (p.Gly719Asp)	rs2088712889
NM_003072.5(SMARCA4):c.2297T>G (p.Val766Gly)	rs201128299

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.