List of variants in gene TMEM67 reported as pathogenic for Joubert syndrome and related disorders

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_153704.6(TMEM67):c.622A>T (p.Arg208Ter)	rs137853108	0.00026
NM_153704.6(TMEM67):c.2498T>C (p.Ile833Thr)	rs267607119	0.00009
NM_153704.6(TMEM67):c.579_580del (p.Gly195fs)	rs386834202	0.00006
NM_153704.6(TMEM67):c.755T>C (p.Met252Thr)	rs202149403	0.00006
NM_153704.6(TMEM67):c.1319G>A (p.Arg440Gln)	rs386834182	0.00004
NM_153704.6(TMEM67):c.1645C>T (p.Arg549Cys)	rs747025617	0.00003
NM_153704.6(TMEM67):c.2439G>A (p.Ala813=)	rs201791586	0.00001
NC_000008.10:g.(94817107_94821067)_(94821390_94822012)del
NM_153704.6(TMEM67):c.1538A>G (p.Tyr513Cys)	rs137853107
NM_153704.6(TMEM67):c.2429_2433del (p.Lys810fs)
NM_153704.6(TMEM67):c.274G>A (p.Gly92Arg)
NM_153704.6(TMEM67):c.50T>A (p.Leu17Ter)	rs1563672487

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