List of variants in gene BBS12 reported as uncertain significance 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: 4

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HGVS	dbSNP	gnomAD frequency
NM_152618.3(BBS12):c.1499T>C (p.Val500Ala)	rs145392789	0.00022
NM_152618.3(BBS12):c.1237C>G (p.Leu413Val)	rs758217005	0.00012
NM_152618.3(BBS12):c.1139C>T (p.Thr380Ile)	rs752254471	0.00001
NM_152618.3(BBS12):c.1504G>T (p.Ala502Ser)	rs142593414	0.00001

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