List of variants in gene combination IFT140, LOC105371046 reported as likely pathogenic for Jeune syndrome

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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: 18

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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.1010-1G>A	rs770185023	0.00006
NM_014714.4(IFT140):c.70C>T (p.His24Tyr)	rs939722027	0.00002
NM_014714.4(IFT140):c.1451C>T (p.Thr484Met)	rs758052634	0.00001
NM_014714.4(IFT140):c.454C>T (p.Leu152Phe)	rs1403669200	0.00001
NM_014714.4(IFT140):c.1009+1G>T
NM_014714.4(IFT140):c.1167del (p.Lys390fs)	rs1085307074
NM_014714.4(IFT140):c.1359+1G>A	rs2034739931
NM_014714.4(IFT140):c.1359_1359+3delinsAC	rs2141816540
NM_014714.4(IFT140):c.146_147+2del	rs2142099151
NM_014714.4(IFT140):c.147+2T>G
NM_014714.4(IFT140):c.148-2A>G	rs775682083
NM_014714.4(IFT140):c.240G>A (p.Trp80Ter)	rs1471379682
NM_014714.4(IFT140):c.370-3_370-1delinsAA	rs2035236903
NM_014714.4(IFT140):c.811-2A>G
NM_014714.4(IFT140):c.874G>A (p.Val292Met)	rs431905521
NM_014714.4(IFT140):c.886G>T (p.Gly296Trp)	rs574450870
NM_014714.4(IFT140):c.903-1G>A	rs1567407044

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