List of variants in gene combination DNAAF4, DNAAF4-CCPG1 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: 13

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HGVS	dbSNP	gnomAD frequency
NM_130810.4(DNAAF4):c.856G>T (p.Glu286Ter)	rs770136467	0.00002
NM_130810.4(DNAAF4):c.808C>T (p.Arg270Ter)	rs397515621	0.00001
NC_000015.10:g.(?_55430650)_(55432622_?)del
NC_000015.10:g.(?_55430664)_(55432608_?)del
NC_000015.10:g.(?_55450222)_(55450367_?)del
NG_021213.1(DNAAF4):g.80484_83613del
NM_130810.3(DNAAF4):c.784-?_893+?del
NM_130810.4(DNAAF4):c.325G>T (p.Glu109Ter)	rs397515622
NM_130810.4(DNAAF4):c.390_393del (p.Ser131_Val132insTer)
NM_130810.4(DNAAF4):c.583del (p.Lys194_Ile195insTer)	rs753649614
NM_130810.4(DNAAF4):c.589_593del (p.Tyr197fs)	rs2058179740
NM_130810.4(DNAAF4):c.784-1037_894-2012del
NM_130810.4(DNAAF4):c.784_893del (p.Trp262fs)

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