List of variants in gene combination CCDC39, TTC14 reported as pathogenic for ciliopathy

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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: 17

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HGVS	dbSNP	gnomAD frequency
NM_181426.2(CCDC39):c.2596G>T (p.Glu866Ter)	rs757823891	0.00004
NM_181426.2(CCDC39):c.2335C>T (p.Gln779Ter)	rs1717267418	0.00001
NM_181426.2(CCDC39):c.2586+1G>A	rs758362162	0.00001
NM_181426.2(CCDC39):c.2327dup (p.Glu777fs)	rs1717268208
NM_181426.2(CCDC39):c.2350C>T (p.Gln784Ter)	rs2108404522
NM_181426.2(CCDC39):c.2357_2359delinsT (p.Ser786fs)	rs587778821
NM_181426.2(CCDC39):c.2358_2362del (p.Ser786fs)	rs771057685
NM_181426.2(CCDC39):c.2387T>G (p.Leu796Ter)
NM_181426.2(CCDC39):c.2391_2392del (p.Arg798fs)
NM_181426.2(CCDC39):c.2391_2394del (p.Glu797_Arg798insTer)
NM_181426.2(CCDC39):c.2470C>T (p.Gln824Ter)
NM_181426.2(CCDC39):c.2492_2496del (p.Met831fs)
NM_181426.2(CCDC39):c.2497_2498del (p.Gln833fs)	rs1007345781
NM_181426.2(CCDC39):c.2507_2508del (p.Lys836fs)	rs781526810
NM_181426.2(CCDC39):c.2542_2546del (p.Glu848fs)	rs750086296
NM_181426.2(CCDC39):c.2551G>T (p.Glu851Ter)	rs1553800956
NM_181426.2(CCDC39):c.2569C>T (p.Gln857Ter)

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