List of variants in gene combination DNM1, LOC113839516 reported as likely pathogenic for electroclinical syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 8

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_004408.4(DNM1):c.236-2A>C
NM_004408.4(DNM1):c.415G>A (p.Gly139Arg)	rs1564328617
NM_004408.4(DNM1):c.415_423del (p.Gly139_Thr141del)
NM_004408.4(DNM1):c.431C>T (p.Pro144Leu)	rs1588352395
NM_004408.4(DNM1):c.442C>A (p.Gln148Lys)	rs1554772945
NM_004408.4(DNM1):c.443A>G (p.Gln148Arg)	rs1554772959
NM_004408.4(DNM1):c.465_467dup (p.Gln155_Ile156insMet)	rs1057518655
NM_004408.4(DNM1):c.532A>T (p.Asn178Tyr)	rs1834792032

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.