ClinVar Miner

List of variants reported for Bardet-Biedl syndrome by SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 96
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_024685.4(BBS10):c.1616C>T (p.Pro539Leu) rs35676114 0.05430
NM_015102.5(NPHP4):c.2219G>A (p.Arg740His) rs34248917 0.02256
NM_153240.5(NPHP3):c.3550G>A (p.Ala1184Thr) rs34391943 0.00744
NM_001374353.1(GLI2):c.1808C>T (p.Thr603Met) rs142775128 0.00099
NM_015910.7(WDPCP):c.83A>T (p.Asp28Val) rs144703991 0.00039
NM_170784.3(MKKS):c.7C>T (p.Arg3Cys) rs779042065 0.00004
NM_015662.3(IFT172):c.986C>T (p.Thr329Met) rs568736482 0.00003
NM_176824.3(BBS7):c.1037G>A (p.Arg346Gln) rs370716101 0.00003
NM_012210.4(TRIM32):c.370C>T (p.Arg124Trp) rs572052810 0.00002
NM_031885.5(BBS2):c.814C>T (p.Arg272Ter) rs764164384 0.00002
NM_001177701.3(IFT27):c.319G>A (p.Ala107Thr) rs576803886 0.00001
NM_001278293.3(ARL6):c.272T>C (p.Ile91Thr) rs137854907 0.00001
NM_015102.5(NPHP4):c.1880C>T (p.Thr627Met) rs199891059 0.00001
NM_015102.5(NPHP4):c.3454C>T (p.Pro1152Ser) rs560329867 0.00001
NM_031885.5(BBS2):c.646C>T (p.Arg216Ter) rs121908180 0.00001
NM_152384.3(BBS5):c.413G>A (p.Arg138His) rs179363897 0.00001
NM_152618.3(BBS12):c.1276T>C (p.Cys426Arg) rs771456483 0.00001
NM_170784.3(MKKS):c.1034G>A (p.Gly345Glu) rs779116830 0.00001
NM_170784.3(MKKS):c.119C>G (p.Ser40Ter) rs753338844 0.00001
NM_170784.3(MKKS):c.748G>A (p.Gly250Arg) rs768929313 0.00001
NM_206933.4(USH2A):c.7334C>T (p.Ser2445Phe) rs41315579 0.00001
NM_000754.4(COMT):c.575_576insT (p.Trp193fs)
NM_001023570.4(IQCB1):c.775C>T (p.Arg259Cys) rs778777181
NM_001144758.3(PHLDB1):c.2603G>A (p.Arg868His)
NM_001278293.3(ARL6):c.302G>T (p.Arg101Ile)
NM_001378454.1(ALMS1):c.10234G>T (p.Ala3412Ser) rs1454233838
NM_001378454.1(ALMS1):c.10882C>T (p.Arg3628Ter) rs1473611414
NM_001378454.1(ALMS1):c.4375C>T (p.Pro1459Ser)
NM_004758.4(TSPOAP1):c.1567C>T (p.Gln523Ter)
NM_004758.4(TSPOAP1):c.25C>T (p.Arg9Trp)
NM_006642.5(SDCCAG8):c.278C>T (p.Pro93Leu) rs140413256
NM_012210.4(TRIM32):c.722A>G (p.Tyr241Cys)
NM_015102.5(NPHP4):c.2126A>G (p.Asp709Gly)
NM_015102.5(NPHP4):c.2290G>A (p.Ala764Thr)
NM_015272.5(RPGRIP1L):c.46G>A (p.Asp16Asn)
NM_015662.3(IFT172):c.199T>C (p.Tyr67His)
NM_015662.3(IFT172):c.3808A>C (p.Lys1270Gln)
NM_015662.3(IFT172):c.3824G>T (p.Gly1275Val) rs543062539
NM_017777.4(MKS1):c.1505C>G (p.Ser502Trp) rs758838271
NM_017777.4(MKS1):c.466G>A (p.Val156Ile)
NM_020347.4(LZTFL1):c.415dup (p.Ala139fs)
NM_020366.4(RPGRIP1):c.2669G>C (p.Arg890Pro)
NM_020366.4(RPGRIP1):c.337C>G (p.Leu113Val)
NM_024649.5(BBS1):c.1076G>C (p.Arg359Pro)
NM_024649.5(BBS1):c.1340-2A>G rs113994180
NM_024649.5(BBS1):c.1405del (p.Gln469fs)
NM_024649.5(BBS1):c.1695G>A (p.Lys565=) rs1555050427
NM_024649.5(BBS1):c.589C>T (p.Gln197Ter) rs777143614
NM_024649.5(BBS1):c.68G>A (p.Trp23Ter) rs778850233
NM_024649.5(BBS1):c.71dup (p.Leu24fs) rs1855932012
NM_024685.4(BBS10):c.1143T>G (p.Tyr381Ter) rs1340165752
NM_024685.4(BBS10):c.1184A>G (p.His395Arg) rs1368733646
NM_024685.4(BBS10):c.1202G>A (p.Gly401Glu) rs199474722
NM_024685.4(BBS10):c.1227del (p.Gln409fs)
NM_024685.4(BBS10):c.1249G>A (p.Ala417Thr)
NM_024685.4(BBS10):c.1341_1344del (p.Tyr448fs)
NM_024685.4(BBS10):c.1527dup (p.Thr510fs)
NM_024685.4(BBS10):c.1599_1602del (p.Thr534fs) rs770556842
NM_024685.4(BBS10):c.1702del (p.Thr568fs)
NM_024685.4(BBS10):c.235dup (p.Thr79fs) rs760693838
NM_024685.4(BBS10):c.271dup (p.Cys91fs) rs549625604
NM_024685.4(BBS10):c.733T>G (p.Phe245Val)
NM_024685.4(BBS10):c.766C>T (p.Arg256Ter) rs1156913215
NM_031885.5(BBS2):c.1555del (p.Leu519fs)
NM_031885.5(BBS2):c.383T>C (p.Leu128Ser)
NM_033028.5(BBS4):c.1288G>T (p.Val430Phe)
NM_033028.5(BBS4):c.217del (p.Gln73fs)
NM_144596.4(TTC8):c.572del (p.Leu191fs)
NM_144596.4(TTC8):c.699del (p.Lys233fs)
NM_144596.4(TTC8):c.747del (p.Lys249fs)
NM_152384.3(BBS5):c.164T>C (p.Leu55Ser)
NM_152384.3(BBS5):c.198del (p.Val67fs)
NM_152384.3(BBS5):c.25G>A (p.Glu9Lys) rs1363954560
NM_152384.3(BBS5):c.425T>G (p.Leu142Ter) rs1574339529
NM_152384.3(BBS5):c.682-1G>A
NM_152522.7(ARL6IP6):c.373C>T (p.Leu125Phe)
NM_152618.3(BBS12):c.1291C>T (p.Arg431Trp) rs756955366
NM_152618.3(BBS12):c.1480dup (p.Thr494fs)
NM_152618.3(BBS12):c.1522_1523insGG (p.Val508fs)
NM_152618.3(BBS12):c.1786C>T (p.Gln596Ter)
NM_152618.3(BBS12):c.1918del (p.Tyr640fs)
NM_152618.3(BBS12):c.1932TAG[1] (p.Ser645del) rs758008862
NM_152618.3(BBS12):c.2068dup (p.Ile690fs)
NM_152618.3(BBS12):c.223del (p.Gln75fs)
NM_152618.3(BBS12):c.323C>G (p.Pro108Arg) rs151344630
NM_152618.3(BBS12):c.95del (p.Pro32fs)
NM_170784.3(MKKS):c.1184A>G (p.His395Arg)
NM_170784.3(MKKS):c.1490G>A (p.Cys497Tyr) rs2122219712
NM_170784.3(MKKS):c.1526A>T (p.Asn509Ile)
NM_176824.3(BBS7):c.446A>C (p.Asp149Ala)
NM_176824.3(BBS7):c.585dup (p.His196fs)
NM_176824.3(BBS7):c.68_77del (p.Leu23fs)
NM_176824.3(BBS7):c.758G>A (p.Gly253Glu)
NM_198428.3(BBS9):c.1195C>T (p.Gln399Ter)
NM_198428.3(BBS9):c.557A>G (p.Tyr186Cys)
NM_198428.3(BBS9):c.621_702+3del

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.