List of variants in gene IFT140 reported by Blueprint Genetics

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: 15

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HGVS	dbSNP	gnomAD frequency
NM_014714.4(IFT140):c.1574G>C (p.Cys525Ser)	rs112545558	0.00122
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.3939C>A (p.Cys1313Ter)	rs1002670900	0.00006
NM_014714.4(IFT140):c.1984G>A (p.Val662Ile)	rs199758112	0.00005
NM_014714.4(IFT140):c.3713C>T (p.Ala1238Val)	rs757122561	0.00002
NM_014714.4(IFT140):c.3581A>G (p.Gln1194Arg)	rs754978656	0.00001
NM_014714.4(IFT140):c.3767C>T (p.Ser1256Phe)	rs1325819285	0.00001
NM_014714.4(IFT140):c.4040+1G>A	rs748523056	0.00001
NM_014714.4(IFT140):c.1862delinsAGA (p.Arg621fs)	rs2033706353
NM_014714.4(IFT140):c.2243A>G (p.His748Arg)	rs2033204478
NM_014714.4(IFT140):c.2607C>G (p.Cys869Trp)	rs2040684314
NM_014714.4(IFT140):c.2655del (p.Trp885fs)	rs762111572
NM_014714.4(IFT140):c.2767_2768+2del	rs769075694
NM_014714.4(IFT140):c.4208GGC[4] (p.Arg1405dup)	rs754312950

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