List of variants reported as pathogenic for autosomal recessive disease by Duke University Health System Sequencing Clinic, Duke University Health System

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: 7

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000441.2(SLC26A4):c.1003T>C (p.Phe335Leu)	rs111033212	0.00077
NM_000441.2(SLC26A4):c.626G>T (p.Gly209Val)	rs111033303	0.00039
NM_000271.5(NPC1):c.3182T>C (p.Ile1061Thr)	rs80358259	0.00025
NM_024989.4(PGAP1):c.1396C>T (p.Gln466Ter)	rs143038880	0.00001
NM_000782.5(CYP24A1):c.62del (p.Pro21fs)	rs774432244
NM_005199.5(CHRNG):c.117dup (p.Asn40fs)	rs797044677
NM_024989.4(PGAP1):c.1572T>A (p.Tyr524Ter)	rs869025578

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.