List of variants in gene combination IFT140, LOC126862260 reported by Dept Of Ophthalmology, Nagoya University

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: 13

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HGVS	dbSNP	gnomAD frequency
NM_014714.4(IFT140):c.2919C>T (p.Ala973=)	rs2235640	0.19119
NM_014714.4(IFT140):c.3079G>A (p.Gly1027Arg)	rs137995818	0.00236
NM_014714.4(IFT140):c.2829G>A (p.Pro943=)	rs141779807	0.00038
NM_014714.4(IFT140):c.2922G>A (p.Ala974=)	rs201864536	0.00018
NM_014714.4(IFT140):c.2935G>A (p.Glu979Lys)	rs146277966	0.00014
NM_014714.4(IFT140):c.2786C>T (p.Thr929Met)	rs757585192	0.00007
NM_014714.4(IFT140):c.2876G>A (p.Arg959Gln)	rs148240226	0.00007
NM_014714.4(IFT140):c.2945G>A (p.Arg982Gln)	rs766316995	0.00001
NM_014714.4(IFT140):c.2772C>G (p.Tyr924Ter)
NM_014714.4(IFT140):c.2963del (p.Val988fs)
NM_014714.4(IFT140):c.3014_3021del (p.Asn1005fs)
NM_014714.4(IFT140):c.3076G>T (p.Val1026Phe)
NM_014714.4(IFT140):c.3135G>A (p.Leu1045=)

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