ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from ClinVar Staff, National Center for Biotechnology Information (NCBI) and "pathogenic" from any submitter

Minimum review status of the submission from ClinVar Staff, National Center for Biotechnology Information (NCBI): Collection method of the submission from ClinVar Staff, National Center for Biotechnology Information (NCBI):
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 12
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000528.4(MAN2B1):c.2426T>C (p.Leu809Pro) rs80338681 0.00006
NM_000153.4(GALC):c.2041G>A (p.Val681Met) rs200607029 0.00004
NM_000528.4(MAN2B1):c.1067C>G (p.Pro356Arg) rs121434333 0.00001
NM_000528.4(MAN2B1):c.1351G>T (p.Gly451Cys) rs368899357 0.00001
NM_000528.4(MAN2B1):c.598C>A (p.His200Asn) rs772108001 0.00001
NM_000528.4(MAN2B1):c.685C>T (p.Arg229Trp) rs763257568 0.00001
NM_000528.4(MAN2B1):c.215A>T (p.His72Leu) rs387906261
NM_000528.4(MAN2B1):c.2248C>T (p.Arg750Trp) rs80338680
NM_000528.4(MAN2B1):c.2398G>C (p.Gly800Arg) rs398123456
NM_001312909.2(FAM111A):c.1531T>C (p.Tyr511His) rs587777012
NM_001312909.2(FAM111A):c.1706G>A (p.Arg569His) rs587777011
NM_032578.4(MYPN):c.2882C>T (p.Pro961Leu) rs864621995

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.