List of variants in gene combination IFT140, LOC105371046 reported as likely pathogenic by Invitae

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
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.1359+1G>A	rs2034739931
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.370-3_370-1delinsAA	rs2035236903
NM_014714.4(IFT140):c.811-2A>G
NM_014714.4(IFT140):c.903-1G>A	rs1567407044

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