ClinVar Miner

List of variants studied for Bardet-Biedl syndrome 1 by Daryl Scott Lab, Baylor College of Medicine

Included ClinVar conditions (4):

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg)	rs113624356	0.00212
NM_024649.5(BBS1):c.751C>G (p.Leu251Val)	rs951217740	0.00005
NM_024649.5(BBS1):c.1139G>A (p.Arg380Gln)	rs758139447	0.00002
NM_024649.5(BBS1):c.951+1G>T	rs746875134

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