List of variants in gene PARN reported as pathogenic by OMIM

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: 10

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_002582.4(PARN):c.1045C>T (p.Arg349Trp)	rs754368658	0.00001
NM_002582.4(PARN):c.1262A>G (p.Lys421Arg)	rs777090017	0.00001
NM_002582.4(PARN):c.918+1G>T	rs756132866	0.00001
NM_002582.3(PARN):c.962+295_1263-8706del
NM_002582.4(PARN):c.1148C>T (p.Ala383Val)	rs786200999
NM_002582.4(PARN):c.246-2A>G	rs751381953
NM_002582.4(PARN):c.529C>T (p.Gln177Ter)	rs876661305
NM_002582.4(PARN):c.563dup (p.Glu189fs)	rs878853260
NM_002582.4(PARN):c.659+4_659+7del	rs759131762
NM_002582.4(PARN):c.863dup (p.Asn288fs)	rs786201001

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.