List of variants in gene combination IFT140, LOC105371046 reported as pathogenic by Laboratory of Medical Genetics (UMR_S 1112), INSERM/Strasbourg University

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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: 5

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HGVS	dbSNP	gnomAD frequency
NM_014714.4(IFT140):c.634G>A (p.Gly212Arg)	rs201188361	0.00008
NM_014714.4(IFT140):c.1319T>C (p.Leu440Pro)	rs1555491448	0.00001
NM_014714.4(IFT140):c.454C>T (p.Leu152Phe)	rs1403669200	0.00001
NM_014714.3(IFT140):c.(?_-1)_(147+1_148-1)del
NM_014714.4(IFT140):c.874G>A (p.Val292Met)	rs431905521

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