List of variants in gene PDE6D reported as pathogenic for Joubert syndrome 22

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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: 8

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HGVS	dbSNP	gnomAD frequency
NM_002601.4(PDE6D):c.114del (p.Ser39fs)	rs772392692	0.00001
NC_000002.11:g.(?_232645755)_(232645824_?)del
NM_002601.4(PDE6D):c.140-1G>A	rs587777156
NM_002601.4(PDE6D):c.181C>T (p.Arg61Ter)
NM_002601.4(PDE6D):c.342del (p.Glu114fs)
NM_002601.4(PDE6D):c.367_368insG (p.Leu123fs)	rs1559307932
NM_002601.4(PDE6D):c.46A>T (p.Lys16Ter)	rs2106294164
NM_002601.4(PDE6D):c.66del (p.Arg23fs)	rs2106261987

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