List of variants in gene PRKN reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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: 12

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_004562.3(PRKN):c.1310C>T (p.Pro437Leu)	rs149953814	0.00223
NM_004562.3(PRKN):c.766C>T (p.Arg256Cys)	rs150562946	0.00046
NM_004562.3(PRKN):c.1372A>C (p.Met458Leu)	rs182893847	0.00011
NM_004562.3(PRKN):c.701G>A (p.Arg234Gln)	rs144032774	0.00010
NM_004562.3(PRKN):c.730G>A (p.Val244Ile)	rs771259513	0.00004
NM_004562.3(PRKN):c.848T>C (p.Leu283Pro)	rs56154308	0.00003
NM_004562.3(PRKN):c.311G>A (p.Arg104Gln)	rs748892763	0.00001
NM_004562.3(PRKN):c.765C>T (p.Ser255=)	rs778612938	0.00001
GRCh37/hg19 6q26(chr6:162730271-162884856)x3
GRCh37/hg19 6q26(chr6:162730271-163023391)x3
NM_004562.3(PRKN):c.394CCA[3] (p.Pro133dup)	rs747624684
NM_004562.3(PRKN):c.689C>A (p.Ala230Glu)	rs571490973

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.