List of variants reported as benign for Bardet-Biedl syndrome 2 by Natera, Inc.

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

Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_031885.5(BBS2):c.209G>A (p.Ser70Asn)	rs4784677	0.99534
NM_031885.5(BBS2):c.367A>G (p.Ile123Val)	rs11373	0.20545
NM_031885.5(BBS2):c.1659+3A>G	rs6499838	0.03415
NM_031885.5(BBS2):c.1511C>T (p.Ala504Val)	rs16957538	0.02076
NM_031885.5(BBS2):c.1413A>C (p.Val471=)	rs35294865	0.01415
NM_031885.5(BBS2):c.1422G>A (p.Ser474=)	rs117033008	0.00250
NM_031885.5(BBS2):c.865A>G (p.Ile289Val)	rs150384293	0.00113
NM_031885.5(BBS2):c.126T>G (p.Ile42Met)	rs139945733	0.00061
NM_031885.5(BBS2):c.2079G>A (p.Gln693=)	rs150797250	0.00034
NM_031885.5(BBS2):c.1134A>G (p.Pro378=)	rs185178790	0.00001
NM_031885.5(BBS2):c.266A>G (p.Tyr89Cys)	rs560910758

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