ClinVar Miner

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

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Total variants: 57
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HGVS dbSNP gnomAD frequency
NM_001278293.3(ARL6):c.*225G>C rs4857294 0.92035
NM_025114.4(CEP290):c.853-12_853-11insG rs71082425 0.87640
NM_031885.3(BBS2):c.-239G>A rs2303284 0.19980
NM_152618.3(BBS12):c.*187dup rs386401352 0.19865
NM_015910.6(WDPCP):c.-396T>G rs2278718 0.19689
NM_001178007.1(BBS12):c.-391C>T rs28642232 0.06726
NM_001278293.3(ARL6):c.-240C>T rs116162146 0.01233
NM_015910.7(WDPCP):c.*604_*605del rs886056219 0.01222
NM_001278293.3(ARL6):c.*284C>A rs148380165 0.01054
NM_024685.3(BBS10):c.-71C>T rs569445445 0.00293
NM_005465.7(AKT3):c.*5398_*5402dup rs368945100 0.00273
NM_012210.4(TRIM32):c.*1411_*1414dup rs758130716 0.00030
NM_015910.6(WDPCP):c.-227C>G rs376940318 0.00006
NM_024685.4(BBS10):c.42G>A (p.Ala14=) rs373458861 0.00005
NM_017777.4(MKS1):c.813C>T (p.His271=) rs201961765 0.00003
NM_024685.4(BBS10):c.*177T>G rs189856910 0.00003
NM_031885.5(BBS2):c.-146G>A rs886052153 0.00003
NM_033028.5(BBS4):c.*855_*856del rs748809330 0.00003
NM_024649.5(BBS1):c.877G>A (p.Val293Met) rs769422545 0.00002
NM_015910.6(WDPCP):c.-301G>A rs886056227 0.00001
NM_017777.4(MKS1):c.214G>A (p.Glu72Lys) rs753620277 0.00001
NM_024685.3(BBS10):c.-66C>T rs886049854 0.00001
NM_005465.7(AKT3):c.*5155_*5159dup rs577416381
NM_006642.5(SDCCAG8):c.*214_*217dup rs1057515485
NM_006642.5(SDCCAG8):c.*287A>G rs1057515459
NM_012210.4(TRIM32):c.*811del rs886063382
NM_015910.6(WDPCP):c.-322delT rs886056228
NM_015910.7(WDPCP):c.*138GTTT[1] rs886056221
NM_015910.7(WDPCP):c.*586AG[2] rs886056220
NM_015910.7(WDPCP):c.*624_*625del rs139878372
NM_015910.7(WDPCP):c.-108GCG[6] rs563531309
NM_024649.5(BBS1):c.*562_*563dup rs886048529
NM_024685.4(BBS10):c.*1189dup rs886049840
NM_024685.4(BBS10):c.*1241_*1244del rs886049838
NM_024685.4(BBS10):c.*641AT[2] rs886049845
NM_025114.4(CEP290):c.*139TAAA[1] rs886049876
NM_025114.4(CEP290):c.*19_*22del rs142288119
NM_025114.4(CEP290):c.2484-18GTTTT[4] rs745522483
NM_025114.4(CEP290):c.3309+2_3309+3dup rs886049881
NM_025114.4(CEP290):c.3574-9del rs10717563
NM_025114.4(CEP290):c.442-11del rs199511358
NM_025114.4(CEP290):c.442-22_442-21dup rs199511358
NM_025114.4(CEP290):c.442-22dup rs199511358
NM_025114.4(CEP290):c.5227-14del rs747878752
NM_025114.4(CEP290):c.6522+5dup rs11405846
NM_025114.4(CEP290):c.7209+11_7209+14del rs750259100
NM_031885.3(BBS2):c.-242T>C rs12446354
NM_031885.5(BBS2):c.118-16_118-13del rs758674101
NM_031885.5(BBS2):c.766G>A (p.Gly256Arg) rs886052147
NM_033028.5(BBS4):c.1451-6dup rs770389663
NM_170784.3(MKKS):c.-417-13dup rs528193828
NM_170784.3(MKKS):c.-649+2202_-649+2204dup rs143825746
NM_170784.3(MKKS):c.-649+2292del rs566962031
NM_176824.3(BBS7):c.*1209_*1211del rs886059048
NM_176824.3(BBS7):c.*729del rs3217754
NM_198428.3(BBS9):c.*778_*780dup rs886062289
NM_198428.3(BBS9):c.-37dup rs886062282

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