ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital and "benign" from any submitter

Minimum review status of the submission from Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital: Collection method of the submission from Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital:
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_005912.3(MC4R):c.307G>A (p.Val103Ile) rs2229616 0.01559
NM_000348.4(SRD5A2):c.*43G>A rs28383082 0.00951
NM_000492.4(CFTR):c.1727G>C (p.Gly576Ala) rs1800098 0.00519
NM_001110792.2(MECP2):c.1225G>A (p.Glu409Lys) rs56268439 0.00308
NM_152594.3(SPRED1):c.926T>C (p.Val309Ala) rs114636635 0.00188
NM_000306.4(POU1F1):c.370A>G (p.Met124Val) rs143373007 0.00183
NM_001130438.3(SPTAN1):c.6234C>T (p.Ala2078=) rs147132904 0.00175
NM_016729.3(FOLR1):c.493+2T>C rs144637717 0.00175
NM_000492.4(CFTR):c.2820T>G (p.Thr940=) rs60887846 0.00148
NM_001042492.3(NF1):c.3867C>T (p.Phe1289=) rs138186428 0.00088
NM_001110556.2(FLNA):c.4451A>G (p.Gln1484Arg) rs200130356 0.00086
NM_001035.3(RYR2):c.8209-3A>G rs376788358 0.00044
NM_001378120.1(MBD5):c.599G>A (p.Arg200Gln) rs149278000 0.00020
NM_002230.4(JUP):c.352G>A (p.Glu118Lys) rs149004293 0.00011
NM_001134363.3(RBM20):c.3545G>A (p.Arg1182His) rs563762318 0.00006
NM_001042492.3(NF1):c.7211C>T (p.Ala2404Val) rs771706364 0.00001
NM_000314.6(PTEN):c.-975G>C rs587780001
NM_000492.4(CFTR):c.224G>A (p.Arg75Gln) rs1800076
NM_000529.2(MC2R):c.80C>G (p.Pro27Arg) rs28926178
NM_014000.3(VCL):c.2862_2864del (p.Leu955del) rs397517237

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.