ClinVar Miner

List of variants reported as benign for Bardet-Biedl syndrome 2 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_031885.5(BBS2):c.367A>G (p.Ile123Val) rs11373 0.20545
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.1511C>T (p.Ala504Val) rs16957538 0.02076
NM_031885.5(BBS2):c.612+12C>A rs77019529 0.01713
NM_031885.5(BBS2):c.1413A>C (p.Val471=) rs35294865 0.01415
NM_031885.5(BBS2):c.*316A>G rs17341965 0.00814
NM_031885.5(BBS2):c.865A>G (p.Ile289Val) rs150384293 0.00113
NM_031885.3(BBS2):c.-225C>T rs117744577 0.00111
NM_031885.5(BBS2):c.2079G>A (p.Gln693=) rs150797250 0.00034
NM_031885.3(BBS2):c.-191G>T rs16964239
NM_031885.5(BBS2):c.-137C>G rs77438708

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