List of variants studied for multiple congenital anomalies/dysmorphic syndrome by Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS

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_004560.4(ROR2):c.1324C>T (p.Arg442Ter)	rs267607016	0.00001
NM_006623.4(PHGDH):c.357-1G>A	rs766427173	0.00001
NM_002485.5(NBN):c.935T>A (p.Leu312Ter)	rs371480039
NM_002834.5(PTPN11):c.1382C>G (p.Ala461Gly)	rs397509344
NM_004560.4(ROR2):c.623-11G>A	rs1350375399
NM_005592.4(MUSK):c.112G>T (p.Asp38Tyr)	rs1412657094
NM_015443.4:c.1431+1_1432-1del
NM_020964.3(EPG5):c.4665del (p.Glu1555fs)	rs1057519318
NM_133433.4(NIPBL):c.3868GAA[3] (p.Glu1293del)	rs773996562

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.