ClinVar Miner

List of variants reported as likely pathogenic for Jeune thoracic dystrophy; Nephronophthisis

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 19
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_024753.5(TTC21B):c.1386+1G>T rs764514397 0.00002
NM_024753.5(TTC21B):c.1087+1G>A rs776301212 0.00001
NM_024753.5(TTC21B):c.3102-2A>G rs779472675 0.00001
NM_024753.5(TTC21B):c.553-2A>G rs773580610 0.00001
NC_000002.11:g.(?_166767817)_(166806254_?)dup
NM_024753.5(TTC21B):c.1516+1G>A
NM_024753.5(TTC21B):c.1516+2T>G rs748598334
NM_024753.5(TTC21B):c.152-1G>A rs371396651
NM_024753.5(TTC21B):c.152-2A>G rs760214276
NM_024753.5(TTC21B):c.1900-1G>T
NM_024753.5(TTC21B):c.1900-2A>G
NM_024753.5(TTC21B):c.2138+1G>T
NM_024753.5(TTC21B):c.2461+1G>A
NM_024753.5(TTC21B):c.2868+1G>T rs1685487857
NM_024753.5(TTC21B):c.2869-2A>G rs1553508246
NM_024753.5(TTC21B):c.3263+1G>A rs1574070787
NM_024753.5(TTC21B):c.3684+1G>A
NM_024753.5(TTC21B):c.711-2A>C rs1686972152
NM_024753.5(TTC21B):c.895-1G>A rs773008707

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.