ClinVar Miner

List of variants in gene BBS2 reported as benign for Bardet-Biedl syndrome 2

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Total variants: 19
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NM_031885.3(BBS2):c.-191G>T rs16964239
NM_031885.3(BBS2):c.-225C>T rs117744577
NM_031885.4(BBS2):c.*316A>G rs17341965
NM_031885.4(BBS2):c.-137C>G rs77438708
NM_031885.4(BBS2):c.-40T>C rs115078074
NM_031885.4(BBS2):c.-42T>G rs78076550
NM_031885.4(BBS2):c.1134A>G (p.Pro378=) rs185178790
NM_031885.4(BBS2):c.126T>G (p.Ile42Met) rs139945733
NM_031885.4(BBS2):c.1413A>C (p.Val471=) rs35294865
NM_031885.4(BBS2):c.1422G>A (p.Ser474=) rs117033008
NM_031885.4(BBS2):c.1511C>T (p.Ala504Val) rs16957538
NM_031885.4(BBS2):c.1659+3A>G rs6499838
NM_031885.4(BBS2):c.2079G>A (p.Gln693=) rs150797250
NM_031885.4(BBS2):c.209= (p.Asn70=) rs4784677
NM_031885.4(BBS2):c.266A>G (p.Tyr89Cys) rs560910758
NM_031885.4(BBS2):c.367A>G (p.Ile123Val) rs11373
NM_031885.4(BBS2):c.612+12C>A rs77019529
NM_031885.4(BBS2):c.865A>G (p.Ile289Val) rs150384293

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