ClinVar Miner

List of variants reported as benign for Bardet-Biedl syndrome 1

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Total variants: 62
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HGVS dbSNP gnomAD frequency
NM_024649.5(BBS1):c.-72C>G rs1791688 0.99902
NM_033028.5(BBS4):c.77-6G>A rs8033604 0.94438
NM_033028.5(BBS4):c.76+19G>T rs4777527 0.94399
NM_176824.3(BBS7):c.1891-12C>A rs2706793 0.79185
NM_024649.5(BBS1):c.*7A>G rs8432 0.66464
NM_015910.7(WDPCP):c.1915+13G>A rs992214 0.63738
NM_033028.5(BBS4):c.1061T>C (p.Ile354Thr) rs2277598 0.52665
NM_152618.3(BBS12):c.1157G>A (p.Arg386Gln) rs309370 0.42071
NM_176824.3(BBS7):c.1890+16G>A rs1507994 0.40768
NM_024649.5(BBS1):c.*955G>A rs1791686 0.33323
NM_024649.5(BBS1):c.1180+116T>C rs3819247 0.24920
NM_024649.5(BBS1):c.724-8G>C rs10896125 0.24158
NM_024649.5(BBS1):c.*840A>G rs3741360 0.23322
NM_024649.5(BBS1):c.518+55C>T rs2276406 0.21160
NM_024649.5(BBS1):c.378G>A (p.Leu126=) rs2298806 0.21158
NM_024649.5(BBS1):c.1608+95C>T rs2305532 0.21152
NM_031885.5(BBS2):c.367A>G (p.Ile123Val) rs11373 0.20545
NM_152618.3(BBS12):c.1410C>T (p.Cys470=) rs13135445 0.19015
NM_024649.5(BBS1):c.1413C>T (p.Leu471=) rs3816492 0.17957
NM_198428.3(BBS9):c.1363G>A (p.Ala455Thr) rs11773504 0.17589
NM_152618.3(BBS12):c.1380G>C (p.Val460=) rs13135766 0.16051
NM_152618.3(BBS12):c.1399G>A (p.Asp467Asn) rs13135778 0.15902
NM_152618.3(BBS12):c.1872A>G (p.Gln624=) rs13102440 0.15807
NM_152618.3(BBS12):c.1286G>C (p.Ser429Thr) rs7665271 0.03441
NM_031885.5(BBS2):c.1659+3A>G rs6499838 0.03415
NM_152618.3(BBS12):c.1209G>A (p.Val403=) rs17006092 0.03229
NM_024649.5(BBS1):c.700G>A (p.Glu234Lys) rs35520756 0.03206
NM_152618.3(BBS12):c.1062G>C (p.Val354=) rs34296401 0.03153
NM_152618.3(BBS12):c.1847G>A (p.Ser616Asn) rs28507107 0.02805
NM_024649.5(BBS1):c.*428G>C rs41302425 0.02701
NM_152618.3(BBS12):c.1381A>C (p.Asn461His) rs10027479 0.02523
NM_024649.5(BBS1):c.1349G>A (p.Arg450Gln) rs77298332 0.02147
NM_031885.5(BBS2):c.1511C>T (p.Ala504Val) rs16957538 0.02076
NM_031885.5(BBS2):c.612+12C>A rs77019529 0.01713
NM_198428.3(BBS9):c.1546C>A (p.Pro516Thr) rs73688160 0.01649
NM_024649.5(BBS1):c.*1215T>C rs115354748 0.01605
NM_031885.5(BBS2):c.1413A>C (p.Val471=) rs35294865 0.01415
NM_198428.3(BBS9):c.2299-20A>C rs17727583 0.01007
NM_015910.7(WDPCP):c.2063A>G (p.Asn688Ser) rs61734468 0.00905
NM_198428.3(BBS9):c.1562G>A (p.Arg521Gln) rs34218557 0.00872
NM_152618.3(BBS12):c.714T>G (p.Asn238Lys) rs17006082 0.00860
NM_024685.4(BBS10):c.424G>A (p.Asp142Asn) rs142863601 0.00738
NM_176824.3(BBS7):c.186C>T (p.Pro62=) rs35194418 0.00662
NM_024649.5(BBS1):c.*187C>T rs148117167 0.00609
NM_176824.3(BBS7):c.1505A>G (p.His502Arg) rs114718913 0.00589
NM_152618.3(BBS12):c.116T>C (p.Ile39Thr) rs138036823 0.00577
NM_176824.3(BBS7):c.1512-7A>T rs115987385 0.00545
NM_024649.5(BBS1):c.1020C>G (p.Ser340=) rs35209408 0.00470
NM_152618.3(BBS12):c.1451G>A (p.Arg484Lys) rs35690634 0.00435
NM_031885.5(BBS2):c.805-20A>G rs41280892 0.00423
NM_198428.3(BBS9):c.1246G>A (p.Val416Met) rs61764067 0.00375
NM_198428.3(BBS9):c.2216C>T (p.Ala739Val) rs116483694 0.00287
NM_024649.5(BBS1):c.831-5C>T rs56177555 0.00285
NM_024649.5(BBS1):c.24T>C (p.Asp8=) rs55848325 0.00267
NM_031885.5(BBS2):c.1422G>A (p.Ser474=) rs117033008 0.00250
NM_198428.3(BBS9):c.2632+9C>A rs148654647 0.00242
NM_198428.3(BBS9):c.1648A>G (p.Ile550Val) rs150399299 0.00219
NM_198428.3(BBS9):c.2470C>T (p.Arg824Cys) rs146752751 0.00076
NM_024649.5(BBS1):c.1695+10G>A rs200276861 0.00029
NM_024649.5(BBS1):c.1036G>A (p.Val346Ile) rs201872547 0.00005
NM_015910.7(WDPCP):c.1448G>A (p.Arg483Gln) rs544657165 0.00001
NM_024649.5(BBS1):c.433-5C>T rs542052064 0.00001

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