List of variants in gene combination IFT172, LOC126806173 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: 4

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HGVS	dbSNP	gnomAD frequency
NM_015662.3(IFT172):c.3793G>T (p.Glu1265Ter)	rs999731005	0.00001
NM_015662.3(IFT172):c.3712-2A>T
NM_015662.3(IFT172):c.3822-2_3822-1del
NM_015662.3(IFT172):c.3880del (p.Arg1294fs)

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