List of variants in gene IFT172 reported as likely pathogenic by GeneDx

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: 6

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HGVS	dbSNP	gnomAD frequency
NM_015662.3(IFT172):c.2365C>T (p.Arg789Ter)	rs202024173	0.00001
NM_015662.3(IFT172):c.3111+1G>T	rs759612790	0.00001
NM_015662.3(IFT172):c.3130C>T (p.Arg1044Ter)	rs777676427	0.00001
NM_015662.3(IFT172):c.4630C>T (p.Arg1544Cys)	rs587777079	0.00001
NM_015662.3(IFT172):c.1036C>T (p.Arg346Ter)	rs201862538
NM_015662.3(IFT172):c.4290dup (p.Ile1431fs)	rs1553322497

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