ClinVar Miner

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

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Total variants: 96
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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

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