ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from CSER _CC_NCGL, University of Washington and "pathogenic" from any submitter

Minimum review status of the submission from CSER _CC_NCGL, University of Washington: Collection method of the submission from CSER _CC_NCGL, University of Washington:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 20
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_014270.5(SLC7A9):c.544G>A (p.Ala182Thr) rs79389353 0.00238
NM_001127701.1(SERPINA1):c.187C>T (p.Arg63Cys) rs28931570 0.00137
NM_001127701.1(SERPINA1):c.839A>T (p.Asp280Val) rs121912714 0.00033
NM_000527.5(LDLR):c.910G>A (p.Asp304Asn) rs121908030 0.00006
NM_000257.4(MYH7):c.1988G>A (p.Arg663His) rs371898076 0.00005
NM_001005242.3(PKP2):c.1237C>T (p.Arg413Ter) rs372827156 0.00005
NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr) rs3218716 0.00003
NM_000527.5(LDLR):c.862G>A (p.Glu288Lys) rs368657165 0.00003
NM_001005242.3(PKP2):c.2014-1G>C rs193922674 0.00003
NM_004006.3(DMD):c.1812+1G>A rs373286166 0.00003
NM_000256.3(MYBPC3):c.2374T>C (p.Trp792Arg) rs187830361 0.00002
NM_000540.3(RYR1):c.14918C>T (p.Pro4973Leu) rs146876145 0.00002
NM_000179.3(MSH6):c.892C>T (p.Arg298Ter) rs146816935 0.00001
NM_000256.3(MYBPC3):c.3642G>A (p.Trp1214Ter) rs368765949 0.00001
NM_000264.5(PTCH1):c.395-1G>A rs368869806 0.00001
NM_000312.4(PROC):c.631C>T (p.Arg211Trp) rs121918143 0.00001
NM_000527.5(LDLR):c.301G>A (p.Glu101Lys) rs144172724 0.00001
NM_000059.4(BRCA2):c.5855T>A (p.Leu1952Ter) rs375064902
NM_000527.5(LDLR):c.2475C>G (p.Asn825Lys) rs374045590
NM_007294.4(BRCA1):c.4468G>T (p.Glu1490Ter) rs138608489

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.