ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital and "uncertain significance" 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: 14
Download table as spreadsheet
HGVS dbSNP
NM_000109.4(DMD):c.5300_5301delinsGT (p.Lys1767Ser) rs1557303381
NM_000142.5(FGFR3):c.1138G>A rs28931614
NM_000142.5(FGFR3):c.1948A>C (p.Lys650Gln) rs78311289
NM_000163.5(GHR):c.718T>C (p.Tyr240His) rs143814221
NM_000267.3(NF1):c.3916C>T (p.Arg1306Ter) rs376576925
NM_000348.4(SRD5A2):c.586G>A (p.Gly196Ser) rs121434250
NM_000348.4(SRD5A2):c.598G>A (p.Glu200Lys) rs756853742
NM_003865.3(HESX1):c.313T>G (p.Trp105Gly) rs754137696
NM_005149.3(TBX19):c.535C>T (p.Arg179Ter) rs200197424
NM_005912.3(MC4R):c.161T>C (p.Leu54Pro) rs376439188
NM_005912.3(MC4R):c.523G>A (p.Ala175Thr) rs121913563
NM_005912.3(MC4R):c.63_64del (p.Tyr21_Arg22delinsTer) rs770293321
NM_005912.3(MC4R):c.757G>A (p.Val253Ile) rs187152753
NM_005912.3(MC4R):c.806T>A (p.Ile269Asn) rs79783591

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.