List of variants in gene IFT140 reported as likely 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: 27

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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.3939C>A (p.Cys1313Ter)	rs1002670900	0.00006
NM_014714.4(IFT140):c.1901+1G>T	rs375910993	0.00003
NM_014714.4(IFT140):c.2578-2A>G	rs2040685752	0.00001
NM_014714.4(IFT140):c.2598C>G (p.Tyr866Ter)	rs144513458	0.00001
NM_014714.4(IFT140):c.3214C>T (p.Arg1072Ter)	rs1432688490	0.00001
NM_014714.4(IFT140):c.3788C>T (p.Pro1263Leu)	rs775044452	0.00001
NM_014714.4(IFT140):c.3874-1G>A	rs749563050	0.00001
NM_014714.4(IFT140):c.4040+1G>A	rs748523056	0.00001
NM_014714.4(IFT140):c.1525-2_1525-1del
NM_014714.4(IFT140):c.1862delinsAGA (p.Arg621fs)	rs2033706353
NM_014714.4(IFT140):c.1963C>T (p.Gln655Ter)
NM_014714.4(IFT140):c.2038C>T (p.Gln680Ter)	rs2141540660
NM_014714.4(IFT140):c.2068-2A>G	rs1489989834
NM_014714.4(IFT140):c.2200-1G>C
NM_014714.4(IFT140):c.2214_2217del (p.Asp738fs)	rs1415763185
NM_014714.4(IFT140):c.2577+25G>A	rs1423102192
NM_014714.4(IFT140):c.2628C>A (p.Asn876Lys)	rs2040683256
NM_014714.4(IFT140):c.2650C>G (p.Arg884Gly)	rs554196965
NM_014714.4(IFT140):c.2654G>A (p.Trp885Ter)
NM_014714.4(IFT140):c.2655del (p.Trp885fs)	rs762111572
NM_014714.4(IFT140):c.2671del (p.Gln890_Val891insTer)	rs2141179932
NM_014714.4(IFT140):c.2767_2768+2del	rs769075694
NM_014714.4(IFT140):c.3236dup (p.Gln1080fs)
NM_014714.4(IFT140):c.3271-2A>C
NM_014714.4(IFT140):c.3408_3409del (p.His1136fs)	rs765669703
NM_014714.4(IFT140):c.4078dup (p.Cys1360fs)

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