ClinVar Miner

Variants with conflicting interpretations "affects" from National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center and "likely pathogenic" from any submitter

Minimum review status of the submission from National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center: Collection method of the submission from National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 15
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000441.2(SLC26A4):c.1226G>A (p.Arg409His) rs111033305 0.00006
NM_000441.2(SLC26A4):c.1229C>T (p.Thr410Met) rs111033220 0.00004
NM_000441.2(SLC26A4):c.2162C>T (p.Thr721Met) rs121908363 0.00003
NM_000441.2(SLC26A4):c.1667A>G (p.Tyr556Cys) rs763006761 0.00002
NM_000441.2(SLC26A4):c.1975G>C (p.Val659Leu) rs200455203 0.00001
NM_000441.2(SLC26A4):c.2007C>A (p.Asp669Glu) rs749013429 0.00001
NM_000441.2(SLC26A4):c.2048T>C (p.Phe683Ser) rs1060499808 0.00001
NM_000441.2(SLC26A4):c.578C>T (p.Thr193Ile) rs111033348 0.00001
NM_000441.2(SLC26A4):c.1174A>T (p.Asn392Tyr) rs201562855
NM_000441.2(SLC26A4):c.1579A>C (p.Thr527Pro) rs1554360358
NM_000441.2(SLC26A4):c.1586T>G (p.Ile529Ser) rs786204739
NM_000441.2(SLC26A4):c.269C>T (p.Ser90Leu) rs370588279
NM_000441.2(SLC26A4):c.367C>T (p.Pro123Ser) rs984967571
NM_000441.2(SLC26A4):c.397T>A (p.Ser133Thr) rs121908365
NM_000441.2(SLC26A4):c.416G>C (p.Gly139Ala) rs756272252

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.