List of variants reported as benign for Bardet-Biedl syndrome 1 by Natera, Inc.

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_024649.5(BBS1):c.*7A>G	rs8432	0.66464
NM_024649.5(BBS1):c.724-8G>C	rs10896125	0.24158
NM_024649.5(BBS1):c.378G>A (p.Leu126=)	rs2298806	0.21158
NM_024649.5(BBS1):c.1413C>T (p.Leu471=)	rs3816492	0.17957
NM_024649.5(BBS1):c.700G>A (p.Glu234Lys)	rs35520756	0.03206
NM_024649.5(BBS1):c.1349G>A (p.Arg450Gln)	rs77298332	0.02147
NM_024649.5(BBS1):c.1020C>G (p.Ser340=)	rs35209408	0.00470
NM_024649.5(BBS1):c.831-5C>T	rs56177555	0.00285
NM_024649.5(BBS1):c.24T>C (p.Asp8=)	rs55848325	0.00267
NM_024649.5(BBS1):c.1695+10G>A	rs200276861	0.00029
NM_024649.5(BBS1):c.1036G>A (p.Val346Ile)	rs201872547	0.00005
NM_024649.5(BBS1):c.433-5C>T	rs542052064	0.00001

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