ClinVar Miner

List of variants in gene BBS12 reported by Advanced Center For Translational And Genetic Medicine, Ann & Robert H. Lurie Children's Hospital Of Chicago

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_152618.3(BBS12):c.1063C>T (p.Arg355Ter)	rs121918327	0.00001
NM_152618.3(BBS12):c.1392_1395del (p.Cys464fs)	rs2150737232
NM_152618.3(BBS12):c.1685del (p.Asn562fs)

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