ClinVar Miner

List of variants in gene TMEM67 reported as pathogenic for COACH syndrome 1; Joubert syndrome 6; Meckel syndrome, type 3; Bardet-Biedl syndrome 14; Nephronophthisis 11

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_153704.6(TMEM67):c.1843T>C (p.Cys615Arg)	rs201893408	0.00009
NM_153704.6(TMEM67):c.1321C>T (p.Arg441Cys)	rs752362727	0.00002

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