ClinVar Miner

List of variants studied for Bardet-Biedl syndrome by Laboratory of Medical Genetics, INSERM

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Total variants: 48
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HGVS dbSNP
NM_001177701.3(IFT27):c.107A>G (p.Tyr36Cys) rs1569077441
NM_001177701.3(IFT27):c.352+1G>T rs780659194
NM_001278293.3(ARL6):c.535G>A (p.Asp179Asn)
NM_018848.3(MKKS):c.1239_1242dup (p.Thr415Ter) rs1306231185
NM_018848.3(MKKS):c.1478del (p.Leu493fs) rs1568662687
NM_018848.3(MKKS):c.295T>C (p.Cys99Arg) rs1297985227
NM_018848.3(MKKS):c.492T>A (p.Cys164Ter) rs1568666460
NM_018848.3(MKKS):c.792T>G (p.Tyr264Ter) rs74315397
NM_024649.4(BBS1):c.1111-?_1695+?del
NM_024649.4(BBS1):c.592-?_830+?del
NM_024649.5(BBS1):c.1125C>G (p.Ser375Arg) rs1565287512
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356
NM_024649.5(BBS1):c.1177C>T (p.Arg393Ter) rs1160669210
NM_024649.5(BBS1):c.1473+4A>G rs1486200900
NM_024649.5(BBS1):c.1694A>G (p.Lys565Arg) rs1565291081
NM_024649.5(BBS1):c.436C>T (p.Arg146Ter) rs786204444
NM_024649.5(BBS1):c.951+1G>A rs746875134
NM_024685.4(BBS10):c.1016T>A (p.Val339Asp)
NM_024685.4(BBS10):c.1044_1045del (p.Pro350fs) rs587777837
NM_024685.4(BBS10):c.1091del (p.Asn364fs) rs727503818
NM_024685.4(BBS10):c.1143T>G (p.Tyr381Ter) rs1340165752
NM_024685.4(BBS10):c.198G>T (p.Arg66Ser) rs1565810301
NM_024685.4(BBS10):c.271dup (p.Cys91fs) rs549625604
NM_024685.4(BBS10):c.273C>G (p.Cys91Trp) rs148374859
NM_024685.4(BBS10):c.530A>G (p.Tyr177Cys) rs1555202700
NM_024685.4(BBS10):c.559_561del (p.His187del) rs781421232
NM_024685.4(BBS10):c.724del (p.Gln242fs) rs1565809995
NM_024685.4(BBS10):c.728_731del (p.Lys243fs) rs786204671
NM_031885.4(BBS2):c.522T>A (p.Asp174Glu) rs767373822
NM_033028.4(BBS4):c.157-?_220+?del
NM_033028.5(BBS4):c.157-3C>G rs1567412639
NM_033028.5(BBS4):c.657del (p.Lys220fs) rs1567427651
NM_033028.5(BBS4):c.76+1G>T rs1465437164
NM_152384.3(BBS5):c.123del (p.Gly42fs) rs1272140892
NM_152384.3(BBS5):c.166A>G (p.Arg56Gly) rs1559121920
NM_152618.3(BBS12):c.1055A>C (p.Gln352Pro) rs767068756
NM_152618.3(BBS12):c.1063C>T (p.Arg355Ter) rs121918327
NM_152618.3(BBS12):c.1115_1116del (p.Gly371_Phe372insTer) rs587777803
NM_152618.3(BBS12):c.1502C>T (p.Thr501Met) rs138011813
NM_152618.3(BBS12):c.1574G>A (p.Arg525His) rs776730549
NM_152618.3(BBS12):c.2023C>T (p.Arg675Ter) rs752202089
NM_152618.3(BBS12):c.65T>C (p.Phe22Ser) rs565073445
NM_152618.3(BBS12):c.670dup (p.Thr224fs) rs1339432710
NM_176824.3(BBS7):c.389_390del (p.Asn130fs) rs863224530
NM_198428.3(BBS9):c.113-2A>G rs1562686929
NM_198428.3(BBS9):c.1792C>T (p.Arg598Ter) rs137852856
NM_198428.3(BBS9):c.263+4A>G rs370916293
NM_198428.3(BBS9):c.727G>A (p.Glu243Lys) rs1562917450

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