ClinVar Miner

List of variants reported as pathogenic for Joubert syndrome 6 by OMIM

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Total variants: 12
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HGVS dbSNP
NM_001142301.1(TMEM67):c.2072_2079+4delinsG rs1554557920
NM_001142301.1(TMEM67):c.408+2T>G rs199821258
NM_153704.6(TMEM67):c.130C>T (p.Gln44Ter) rs267607118
NM_153704.6(TMEM67):c.1538A>G (p.Tyr513Cys) rs137853107
NM_153704.6(TMEM67):c.1634G>A (p.Gly545Glu) rs267607114
NM_153704.6(TMEM67):c.1843T>C (p.Cys615Arg) rs201893408
NM_153704.6(TMEM67):c.2439+5G>C rs756686115
NM_153704.6(TMEM67):c.2461G>C (p.Gly821Arg) rs267607116
NM_153704.6(TMEM67):c.2498T>C (p.Ile833Thr) rs267607119
NM_153704.6(TMEM67):c.622A>T (p.Arg208Ter) rs137853108
NM_153704.6(TMEM67):c.755T>C (p.Met252Thr) rs202149403
TMEM67, PRO358LEU

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