List of variants in gene IFT74 reported as pathogenic for Bardet-Biedl syndrome 22

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: 4

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HGVS	dbSNP	gnomAD frequency
NM_025103.4(IFT74):c.1685-1G>T	rs200699377	0.00005
NM_025103.4(IFT74):c.358G>T (p.Glu120Ter)	rs1391036863	0.00001
GRCh38/hg38 9p21.2(chr9:27040565-27060992)
NM_025103.4(IFT74):c.371_372del (p.Gln124fs)	rs2131541114

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