List of variants studied 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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