ClinVar Miner

List of variants in gene IFT172 reported as likely pathogenic for Bardet-Biedl syndrome

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)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_015662.3(IFT172):c.986C>T (p.Thr329Met)	rs568736482	0.00003
NM_015662.3(IFT172):c.296G>A (p.Trp99Ter)	rs1668654133

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