ClinVar Miner

List of variants in gene PJVK studied for auditory system disease

Included ClinVar conditions (549):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 49
Download table as spreadsheet
HGVS dbSNP
NM_001042702.4(PJVK):c.-112G>T rs886055208
NM_001042702.4(PJVK):c.-124G>A rs886055207
NM_001042702.4(PJVK):c.-201C>G rs796484753
NM_001042702.4(PJVK):c.-22-6T>A rs144704250
NM_001042702.4(PJVK):c.-234C>T rs555344314
NM_001042702.4(PJVK):c.-263G>A rs116368316
NM_001042702.4(PJVK):c.-283C>G rs886055206
NM_001042702.4(PJVK):c.-303G>A rs114119504
NM_001042702.4(PJVK):c.-45T>A rs74435413
NM_001042702.4(PJVK):c.-49G>T rs886055211
NM_001042702.4(PJVK):c.-64C>T rs886055210
NM_001042702.4(PJVK):c.-73C>T rs573551830
NM_001042702.4(PJVK):c.-82C>T rs886055209
NM_001042702.4(PJVK):c.158C>G (p.Ser53Ter) rs538027448
NM_001042702.4(PJVK):c.162_172del (p.Pro55fs) rs1559366084
NM_001042702.4(PJVK):c.250T>A (p.Ser84Thr) rs200507933
NM_001042702.4(PJVK):c.298G>A (p.Val100Ile) rs200516108
NM_001042702.4(PJVK):c.406C>T (p.Arg136Ter) rs367688416
NM_001042702.4(PJVK):c.548G>A (p.Arg183Gln) rs760036509
NM_001042702.4(PJVK):c.753C>A (p.Ile251=) rs886055212
NM_001042702.4(PJVK):c.778A>G (p.Met260Val) rs201237972
NM_001042702.4(PJVK):c.794G>A (p.Arg265His) rs199841343
NM_001042702.5(PJVK):c.*20G>A
NM_001042702.5(PJVK):c.*2A>C rs200811582
NM_001042702.5(PJVK):c.-232A>G
NM_001042702.5(PJVK):c.-84C>T
NM_001042702.5(PJVK):c.113T>C (p.Val38Ala)
NM_001042702.5(PJVK):c.113dup (p.Lys41fs) rs1559365985
NM_001042702.5(PJVK):c.122del (p.Lys41fs) rs1559366000
NM_001042702.5(PJVK):c.161C>T (p.Thr54Ile) rs118203988
NM_001042702.5(PJVK):c.212-12C>A rs199967536
NM_001042702.5(PJVK):c.216T>C (p.Ile72=)
NM_001042702.5(PJVK):c.297C>T (p.Asp99=)
NM_001042702.5(PJVK):c.405A>C (p.Thr135=) rs373800401
NM_001042702.5(PJVK):c.437G>A (p.Arg146His) rs369805509
NM_001042702.5(PJVK):c.450C>T (p.Ser150=)
NM_001042702.5(PJVK):c.499C>T (p.Arg167Ter) rs118203989
NM_001042702.5(PJVK):c.525T>G (p.Ala175=)
NM_001042702.5(PJVK):c.547C>T (p.Arg183Trp) rs111706634
NM_001042702.5(PJVK):c.726del (p.Phe242fs) rs1559371613
NM_001042702.5(PJVK):c.766+8T>C rs185220846
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.86A>G (p.Asp29Gly) rs200502817
NM_001042702.5(PJVK):c.874G>A (p.Gly292Arg) rs79399438
NM_001042702.5(PJVK):c.887G>A (p.Arg296Gln)
NM_001042702.5(PJVK):c.887G>C (p.Arg296Pro)
NM_001042702.5(PJVK):c.905ACA[1] (p.Asn303del) rs1559372512
NM_001042702.5(PJVK):c.988del (p.Val330fs) rs1559372640

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.