List of variants in gene BBS4 reported as likely pathogenic by CeGaT Center for Human Genetics Tuebingen

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: 3

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HGVS	dbSNP	gnomAD frequency
NM_033028.5(BBS4):c.883C>T (p.Arg295Ter)	rs775710800	0.00001
NM_033028.5(BBS4):c.322G>A (p.Ala108Thr)	rs1595928075
NM_033028.5(BBS4):c.332+2_332+3insTT	rs753360929

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