List of variants in gene CCDC65 reported as pathogenic for ciliopathy

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
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_033124.5(CCDC65):c.658G>T (p.Glu220Ter)	rs776979382	0.00002
NM_033124.5(CCDC65):c.718C>T (p.Arg240Ter)	rs1003676784	0.00001
NM_033124.5(CCDC65):c.195G>A (p.Trp65Ter)
NM_033124.5(CCDC65):c.205dup (p.Leu69fs)
NM_033124.5(CCDC65):c.469dup (p.Arg157fs)
NM_033124.5(CCDC65):c.494del (p.Glu165fs)	rs1555174708
NM_033124.5(CCDC65):c.699del (p.Asn232_Tyr233insTer)
NM_033124.5(CCDC65):c.739del (p.Leu247fs)	rs2137545975
NM_033124.5(CCDC65):c.877_878del (p.Ile293fs)	rs863223325
NM_033124.5(CCDC65):c.904_905del (p.Val302fs)
NM_033124.5(CCDC65):c.913C>T (p.Arg305Ter)
NM_033124.5(CCDC65):c.968_971del (p.Val323fs)

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