ClinVar Miner

List of variants in gene CPLANE1 studied for Joubert syndrome 1

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 14
Download table as spreadsheet
HGVS dbSNP
NM_023073.3(CPLANE1):c.1394del (p.Leu465fs) rs1280425167
NM_023073.3(CPLANE1):c.1554A>T (p.Arg518Ser) rs886060583
NM_023073.3(CPLANE1):c.1819del (p.Tyr607fs) rs777686211
NM_023073.3(CPLANE1):c.2278C>T (p.Gln760Ter) rs762334514
NM_023073.3(CPLANE1):c.2898del (p.Pro968fs) rs1305821156
NM_023073.3(CPLANE1):c.3104G>C (p.Gly1035Ala) rs1019442092
NM_023073.3(CPLANE1):c.4190-10_4190-9del rs111508546
NM_023073.3(CPLANE1):c.5738-2A>G rs565629362
NM_023073.3(CPLANE1):c.7438dup (p.Arg2480fs) rs886060575
NM_023073.3(CPLANE1):c.792T>C (p.Asp264=) rs886060585
NM_023073.3(CPLANE1):c.8471-3del rs34646696
NM_023073.3(CPLANE1):c.8501+8_8501+12del rs763664569
NM_023073.3(CPLANE1):c.8668G>C (p.Asp2890His) rs761880579
NM_023073.3(CPLANE1):c.8855+1G>A rs863225154

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.