List of variants in gene PJVK reported as uncertain significance for Autosomal recessive nonsyndromic hearing loss 59

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: 39

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001042702.5(PJVK):c.-45T>A	rs74435413	0.00950
NM_001042702.5(PJVK):c.-303G>A	rs114119504	0.00949
NM_001042702.5(PJVK):c.-263G>A	rs116368316	0.00948
NM_001042702.5(PJVK):c.-84C>T	rs183157169	0.00330
NM_001042702.5(PJVK):c.250T>A (p.Ser84Thr)	rs200507933	0.00124
NM_001042702.5(PJVK):c.86A>G (p.Asp29Gly)	rs200502817	0.00104
NM_001042702.5(PJVK):c.766+8T>C	rs185220846	0.00078
NM_001042702.5(PJVK):c.-73C>T	rs573551830	0.00077
NM_001042702.5(PJVK):c.-234C>T	rs555344314	0.00067
NM_001042702.5(PJVK):c.*2A>C	rs200811582	0.00042
NM_001042702.5(PJVK):c.-22-6T>A	rs144704250	0.00026
NM_001042702.5(PJVK):c.298G>A (p.Val100Ile)	rs200516108	0.00018
NM_001042702.5(PJVK):c.-201C>G	rs796484753	0.00016
NM_001042702.5(PJVK):c.794G>A (p.Arg265His)	rs199841343	0.00016
NM_001042702.5(PJVK):c.-112G>T	rs886055208	0.00013
NM_001042702.5(PJVK):c.405A>C (p.Thr135=)	rs373800401	0.00009
NM_001042702.5(PJVK):c.946A>C (p.Asn316His)	rs776028922	0.00008
NM_001042702.5(PJVK):c.*20G>A	rs200368104	0.00005
NM_001042702.5(PJVK):c.-82C>T	rs886055209	0.00005
NM_001042702.5(PJVK):c.216T>C (p.Ile72=)	rs200686247	0.00005
NM_001042702.5(PJVK):c.-64C>T	rs886055210	0.00004
NM_001042702.5(PJVK):c.297C>T (p.Asp99=)	rs375853744	0.00004
NM_001042702.5(PJVK):c.437G>A (p.Arg146His)	rs369805509	0.00004
NM_001042702.5(PJVK):c.-124G>A	rs886055207	0.00003
NM_001042702.5(PJVK):c.212-12C>A	rs199967536	0.00003
NM_001042702.5(PJVK):c.-232A>G	rs1351130857	0.00001
NM_001042702.5(PJVK):c.-283C>G	rs886055206	0.00001
NM_001042702.5(PJVK):c.548G>A (p.Arg183Gln)	rs760036509	0.00001
NM_001042702.5(PJVK):c.778A>G (p.Met260Val)	rs201237972	0.00001
NM_001042702.5(PJVK):c.-49G>T	rs886055211
NM_001042702.5(PJVK):c.370G>A (p.Val124Met)
NM_001042702.5(PJVK):c.450C>T (p.Ser150=)	rs1684057503
NM_001042702.5(PJVK):c.505T>A (p.Cys169Ser)
NM_001042702.5(PJVK):c.525T>G (p.Ala175=)	rs1684063153
NM_001042702.5(PJVK):c.753C>A (p.Ile251=)	rs886055212
NM_001042702.5(PJVK):c.793C>G (p.Arg265Gly)	rs17304212
NM_001042702.5(PJVK):c.793C>T (p.Arg265Cys)	rs17304212
NM_001042702.5(PJVK):c.880C>A (p.His294Asn)	rs2154126353
NM_001042702.5(PJVK):c.887G>C (p.Arg296Pro)	rs532114292

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.