ClinVar Miner

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

Included ClinVar conditions (97):
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Gene type:
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Total variants: 22
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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

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