List of variants in gene IFT140 reported as pathogenic for retinal disorder

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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_014714.4(IFT140):c.1565G>A (p.Gly522Glu)	rs199826737	0.00009
NM_014714.4(IFT140):c.2399+1G>T	rs376586707	0.00006
NM_014714.4(IFT140):c.1990G>A (p.Glu664Lys)	rs387907192	0.00004
NM_014714.4(IFT140):c.3214C>T (p.Arg1072Ter)	rs1432688490	0.00001
NM_014714.4(IFT140):c.4196T>C (p.Leu1399Pro)	rs559371453	0.00001
NM_014714.4(IFT140):c.1597_1598insA (p.Phe533fs)
NM_014714.4(IFT140):c.1898_1901del (p.Asn633fs)	rs1555487977
NM_014714.4(IFT140):c.3827G>A (p.Gly1276Glu)	rs779007169

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