List of variants in gene TMEM216 reported as pathogenic for Joubert syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 22

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001173990.3(TMEM216):c.398T>G (p.Leu133Ter)	rs755459875	0.00003
NM_001173990.3(TMEM216):c.217C>T (p.Arg73Cys)	rs779526456	0.00001
NM_001173990.3(TMEM216):c.328C>T (p.Gln110Ter)	rs968023665	0.00001
NM_001173990.3(TMEM216):c.87G>A (p.Trp29Ter)	rs1304320833	0.00001
NC_000011.9:g.(?_61160094)_(61161458_?)del
NM_001173990.3(TMEM216):c.118_119del (p.Phe40fs)	rs2135190154
NM_001173990.3(TMEM216):c.135del (p.Gly46fs)
NM_001173990.3(TMEM216):c.196del (p.Tyr66fs)	rs2539892774
NM_001173990.3(TMEM216):c.218G>A (p.Arg73His)	rs201108965
NM_001173990.3(TMEM216):c.218G>T (p.Arg73Leu)	rs201108965
NM_001173990.3(TMEM216):c.222_229+3delinsTTTTTTTGTT	rs2539892835
NM_001173990.3(TMEM216):c.228dup (p.Gly77fs)	rs767384710
NM_001173990.3(TMEM216):c.236del (p.Lys79fs)	rs2539896387
NM_001173990.3(TMEM216):c.248_249del (p.Cys83fs)	rs2539896401
NM_001173990.3(TMEM216):c.249C>A (p.Cys83Ter)	rs2135195989
NM_001173990.3(TMEM216):c.250C>T (p.Gln84Ter)	rs1362597973
NM_001173990.3(TMEM216):c.253C>T (p.Arg85Ter)	rs11230683
NM_001173990.3(TMEM216):c.360dup (p.Asn121fs)	rs2539896690
NM_001173990.3(TMEM216):c.373_374insA (p.Leu125fs)	rs2135196385
NM_001173990.3(TMEM216):c.67del (p.Leu23fs)	rs1565088283
NM_001173990.3(TMEM216):c.75del (p.Phe25_Leu26insTer)	rs2135190077
NM_001173990.3(TMEM216):c.77_78insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGGAAATCCTGTTCTTTCT (p.Leu26_Asn27insPhePhePhePhePhePheXaaXaaXaaXaaLeuValIleArgProProArgProProLysValLeuGlyLeuGlnAlaTer)	rs2539891609

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.