List of variants reported as pathogenic for Developmental and epileptic encephalopathy, 31A 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: 17

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_004408.4(DNM1):c.1261C>T (p.Arg421Ter)	rs200535620	0.00003
NC_000009.11:g.(?_130374683)_(131329276_?)del
NC_000009.11:g.(?_130980490)_(130996406_?)del
NM_004408.4(DNM1):c.1075G>A (p.Gly359Arg)	rs1554774587
NM_004408.4(DNM1):c.1076G>C (p.Gly359Ala)	rs587777862
NM_004408.4(DNM1):c.1195A>T (p.Arg399Ter)	rs2131175203
NM_004408.4(DNM1):c.128G>A (p.Gly43Asp)	rs1833622746
NM_004408.4(DNM1):c.1321C>T (p.Gln441Ter)
NM_004408.4(DNM1):c.139G>A (p.Val47Met)	rs869312702
NM_004408.4(DNM1):c.1626del (p.Trp542fs)
NM_004408.4(DNM1):c.197G>C (p.Arg66Pro)
NM_004408.4(DNM1):c.2296C>T (p.Gln766Ter)	rs1829434336
NM_004408.4(DNM1):c.2299dup (p.Ser767fs)	rs2131297826
NM_004408.4(DNM1):c.2434dup (p.Ala812fs)	rs747024881
NM_004408.4(DNM1):c.375C>G (p.Tyr125Ter)
NM_004408.4(DNM1):c.709C>T (p.Arg237Trp)	rs760270633
NM_004408.4(DNM1):c.767del (p.Arg256fs)	rs2131158061

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.