List of variants in gene IFT43 reported as likely benign for Cranioectodermal dysplasia 3; Short-rib thoracic dysplasia 18 with polydactyly; Retinitis pigmentosa 81

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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: 15

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HGVS	dbSNP	gnomAD frequency
NM_001102564.3(IFT43):c.136C>T (p.Leu46=)	rs151137087	0.00052
NM_001102564.3(IFT43):c.383G>A (p.Arg128Gln)	rs138684775	0.00045
NM_001102564.3(IFT43):c.369-18G>A	rs199590828	0.00040
NM_001102564.3(IFT43):c.516C>T (p.Val172=)	rs372647793	0.00033
NM_001102564.3(IFT43):c.201C>T (p.Ser67=)	rs140127543	0.00026
NM_001102564.3(IFT43):c.16G>C (p.Asp6His)	rs201966792	0.00019
NM_001102564.3(IFT43):c.395A>T (p.Tyr132Phe)	rs201692401	0.00016
NM_001102564.3(IFT43):c.445-15T>C	rs745766333	0.00008
NM_001102564.3(IFT43):c.570G>A (p.Glu190=)	rs201394224	0.00004
NM_001102564.3(IFT43):c.501C>A (p.Val167=)	rs1248117843	0.00003
NM_001102564.3(IFT43):c.195T>A (p.Gly65=)	rs766606545	0.00001
NM_001102564.3(IFT43):c.368+17A>T	rs759453395	0.00001
NM_001102564.3(IFT43):c.147+18dup	rs747593685
NM_001102564.3(IFT43):c.215+18A>G
NM_001102564.3(IFT43):c.369-8del	rs536027245

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