ClinVar Miner

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

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Total variants: 57
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HGVS dbSNP
NM_001009894.3(C12orf29):c.*618_*621TATT[1] rs886049876
NM_001165927.1(MKS1):c.184G>A (p.Glu62Lys) rs753620277
NM_001165927.1(MKS1):c.783C>T (p.His261=) rs201961765
NM_001178007.1(BBS12):c.-391C>T rs28642232
NM_001278293.3(ARL6):c.*225G>C rs4857294
NM_001278293.3(ARL6):c.*284C>A rs148380165
NM_001278293.3(ARL6):c.-240C>T rs116162146
NM_001365068.1(ASTN2):c.2806+24653_2806+24656dup rs758130716
NM_001365068.1(ASTN2):c.2806+25258del rs886063382
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_006642.5(SDCCAG8):c.*62_*66dup rs368945100
NM_015910.6(WDPCP):c.-227C>G rs376940318
NM_015910.6(WDPCP):c.-301G>A rs886056227
NM_015910.6(WDPCP):c.-322delT rs886056228
NM_015910.6(WDPCP):c.-396T>G rs2278718
NM_015910.7(WDPCP):c.*138_*141GTTT[1] rs886056221
NM_015910.7(WDPCP):c.*586_*587AG[2] rs886056220
NM_015910.7(WDPCP):c.*604_*605del rs886056219
NM_015910.7(WDPCP):c.*624_*625del rs139878372
NM_015910.7(WDPCP):c.-108_-106GCG[6] rs563531309
NM_018848.3(MKKS):c.-417-20dup rs528193828
NM_018848.3(MKKS):c.-781del rs566962031
NM_018848.3(MKKS):c.-871_-869dup rs143825746
NM_024649.5(BBS1):c.*562_*563dup rs886048529
NM_024649.5(BBS1):c.877G>A (p.Val293Met) rs769422545
NM_024685.4(BBS10):c.*1189dup rs886049840
NM_024685.4(BBS10):c.*1241_*1244del rs886049838
NM_024685.4(BBS10):c.*177T>G rs189856910
NM_024685.4(BBS10):c.*641_*642AT[2] rs886049845
NM_024685.4(BBS10):c.-66C>T rs886049854
NM_024685.4(BBS10):c.-71C>T rs569445445
NM_024685.4(BBS10):c.42G>A (p.Ala14=) rs373458861
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_025114.4(CEP290):c.853-12_853-11insG rs71082425
NM_031885.3(BBS2):c.-239G>A rs2303284
NM_031885.3(BBS2):c.-242T>C rs12446354
NM_031885.4(BBS2):c.-146G>A rs886052153
NM_031885.4(BBS2):c.118-16_118-13del rs758674101
NM_031885.4(BBS2):c.766G>A (p.Gly256Arg) rs886052147
NM_033028.5(BBS4):c.*855_*856del rs748809330
NM_033028.5(BBS4):c.1451-6dup rs770389663
NM_152618.3(BBS12):c.*187dup rs386401352
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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