List of variants reported as pathogenic for Autosomal recessive nonsyndromic hearing loss 66; Nephronophthisis 19; Isolated neonatal sclerosing cholangitis by Fulgent Genetics, Fulgent Genetics

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: 6

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_016356.5(DCDC2):c.349-2A>G	rs760040426	0.00002
NM_016356.5(DCDC2):c.890T>A (p.Leu297Ter)	rs1050411259	0.00001
NM_016356.5(DCDC2):c.123_124del (p.Ser42fs)	rs757704417
NM_016356.5(DCDC2):c.294-2A>G	rs1554121105
NM_016356.5(DCDC2):c.383C>G (p.Ser128Ter)	rs904520404
NM_016356.5(DCDC2):c.529dup (p.Ile177fs)	rs904944428

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.