ClinVar Miner

List of variants reported as benign for Bardet-Biedl syndrome 2 by Genome-Nilou Lab

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Total variants: 6
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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.613-54C>G rs4784675 0.16235
NM_031885.5(BBS2):c.-40T>C rs115078074 0.07623
NM_031885.5(BBS2):c.-42T>G rs78076550 0.07623
NM_031885.5(BBS2):c.1413A>C (p.Val471=) rs35294865 0.01415

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