ClinVar Miner

List of variants studied for Bardet-Biedl syndrome 2 by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 67
Download table as spreadsheet
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.1659+3A>G rs6499838 0.03415
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.*13C>T rs141170836 0.00607
NM_031885.5(BBS2):c.1422G>A (p.Ser474=) rs117033008 0.00250
NM_031885.5(BBS2):c.*34A>G rs199627406 0.00125
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.1380C>T (p.Phe460=) rs141046144 0.00086
NM_031885.5(BBS2):c.126T>G (p.Ile42Met) rs139945733 0.00061
NM_031885.5(BBS2):c.1797+12C>T rs370960689 0.00034
NM_031885.5(BBS2):c.2079G>A (p.Gln693=) rs150797250 0.00034
NM_031885.5(BBS2):c.1104C>T (p.Asn368=) rs141731677 0.00024
NM_031885.3(BBS2):c.-190G>C rs555974619 0.00019
NM_031885.5(BBS2):c.725A>G (p.Asn242Ser) rs199898889 0.00019
NM_031885.5(BBS2):c.*91C>T rs148188874 0.00012
NM_031885.5(BBS2):c.642C>T (p.Gly214=) rs141563594 0.00010
NM_031885.5(BBS2):c.823C>T (p.Arg275Ter) rs121908177 0.00010
NM_031885.3(BBS2):c.-208G>A rs977994154 0.00008
NM_031885.5(BBS2):c.-147G>T rs886052154 0.00006
NM_031885.5(BBS2):c.837C>T (p.Val279=) rs748579225 0.00005
NM_031885.5(BBS2):c.111G>A (p.Thr37=) rs191867233 0.00004
NM_031885.5(BBS2):c.1207C>T (p.Arg403Cys) rs766873519 0.00004
NM_031885.5(BBS2):c.744T>C (p.His248=) rs186893286 0.00004
NM_031885.3(BBS2):c.-177C>T rs567188429 0.00003
NM_031885.3(BBS2):c.-178C>T rs548915387 0.00003
NM_031885.5(BBS2):c.1284C>T (p.His428=) rs757521927 0.00003
NM_031885.5(BBS2):c.1527+12G>A rs376715521 0.00003
NM_031885.5(BBS2):c.58G>A (p.Ala20Thr) rs886052150 0.00003
NM_031885.5(BBS2):c.1894C>T (p.Arg632Cys) rs200021475 0.00002
NM_031885.5(BBS2):c.1910+9T>G rs751604858 0.00002
NM_031885.5(BBS2):c.1934T>C (p.Met645Thr) rs757737589 0.00002
NM_031885.5(BBS2):c.2088T>C (p.Thr696=) rs886052144 0.00002
NM_031885.5(BBS2):c.86C>T (p.Pro29Leu) rs771211831 0.00002
NM_031885.3(BBS2):c.-199A>T rs569642995 0.00001
NM_031885.5(BBS2):c.1134A>G (p.Pro378=) rs185178790 0.00001
NM_031885.5(BBS2):c.1226-11C>T rs371851180 0.00001
NM_031885.5(BBS2):c.1438C>T (p.Arg480Ter) rs778090540 0.00001
NM_031885.5(BBS2):c.1486A>G (p.Ile496Val) rs549070573 0.00001
NM_031885.5(BBS2):c.1662C>G (p.Ile554Met) rs774112668 0.00001
NM_031885.5(BBS2):c.327G>A (p.Ser109=) rs770497817 0.00001
NM_031885.5(BBS2):c.408G>A (p.Ala136=) rs771554929 0.00001
NM_031885.5(BBS2):c.534+7G>C rs886052149 0.00001
NM_031885.5(BBS2):c.603A>C (p.Thr201=) rs768647514 0.00001
NM_031885.5(BBS2):c.78G>A (p.Gly26=) rs759629466 0.00001
NM_031885.3(BBS2):c.-163C>T rs750434595
NM_031885.3(BBS2):c.-191G>T rs16964239
NM_031885.5(BBS2):c.-118C>T rs1042357903
NM_031885.5(BBS2):c.-133C>T rs886052152
NM_031885.5(BBS2):c.-137C>G rs77438708
NM_031885.5(BBS2):c.-161G>A rs886052155
NM_031885.5(BBS2):c.-22C>T rs528287127
NM_031885.5(BBS2):c.-67C>G rs886052151
NM_031885.5(BBS2):c.1118A>G (p.His373Arg) rs886052146
NM_031885.5(BBS2):c.1397+7C>A rs771297840
NM_031885.5(BBS2):c.152A>G (p.His51Arg) rs1964682368
NM_031885.5(BBS2):c.1697A>G (p.Asp566Gly) rs1964156754
NM_031885.5(BBS2):c.1895G>A (p.Arg632His) rs138043021
NM_031885.5(BBS2):c.1902G>T (p.Met634Ile) rs886052145
NM_031885.5(BBS2):c.247T>C (p.Leu83=) rs1567584842
NM_031885.5(BBS2):c.266A>G (p.Tyr89Cys) rs560910758
NM_031885.5(BBS2):c.634A>G (p.Met212Val) rs886052148

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.