List of variants in gene DNAAF6 studied for ciliopathy

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_173494.2(DNAAF6):c.244G>A (p.Glu82Lys)	rs147979953	0.00121
NM_173494.2(DNAAF6):c.502C>T (p.Arg168Cys)	rs775335375	0.00004
NM_173494.2(DNAAF6):c.290G>T (p.Gly97Val)	rs765827471	0.00001
NM_173494.2(DNAAF6):c.125A>G (p.Glu42Gly)
NM_173494.2(DNAAF6):c.322_332del (p.Glu108Valfs)	rs1928059485
NM_173494.2(DNAAF6):c.332+1G>A	rs2147829163
NM_173494.2(DNAAF6):c.355C>T (p.Gln119Ter)	rs1057519569
NM_173494.2(DNAAF6):c.357_363del (p.Val120fs)	rs1057519568
NM_173494.2(DNAAF6):c.430-1G>A

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