ClinVar Miner

List of variants reported as pathogenic for Bardet-Biedl syndrome by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Included ClinVar conditions (45):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 63
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HGVS dbSNP gnomAD frequency
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356 0.00212
NM_152618.3(BBS12):c.1502C>T (p.Thr501Met) rs138011813 0.00020
NM_024649.5(BBS1):c.1645G>T (p.Glu549Ter) rs121917777 0.00012
NM_170784.3(MKKS):c.110A>G (p.Tyr37Cys) rs74315396 0.00011
NM_031885.5(BBS2):c.1895G>C (p.Arg632Pro) rs138043021 0.00010
NM_031885.5(BBS2):c.823C>T (p.Arg275Ter) rs121908177 0.00010
NM_006642.5(SDCCAG8):c.696T>G (p.Tyr232Ter) rs772544112 0.00006
NM_006642.5(SDCCAG8):c.740+356C>T rs397515337 0.00006
NM_170784.3(MKKS):c.830T>C (p.Leu277Pro) rs74315398 0.00006
NM_144596.4(TTC8):c.489G>A (p.Thr163=) rs119103286 0.00004
NM_031885.5(BBS2):c.1237C>T (p.Arg413Ter) rs147030232 0.00003
NM_031885.5(BBS2):c.311A>C (p.Asp104Ala) rs121908179 0.00003
NM_031885.5(BBS2):c.72C>G (p.Tyr24Ter) rs121908175 0.00003
NM_024685.4(BBS10):c.1677del (p.Ser558_Tyr559insTer) rs1555202584 0.00002
NM_024685.4(BBS10):c.687del (p.Val230fs) rs761101213 0.00002
NM_031885.5(BBS2):c.814C>T (p.Arg272Ter) rs764164384 0.00002
NM_001177701.3(IFT27):c.299G>A (p.Cys100Tyr) rs587777546 0.00001
NM_024649.5(BBS1):c.1447C>T (p.Arg483Ter) rs745656125 0.00001
NM_024649.5(BBS1):c.1514_1515del (p.Leu505fs) rs775769424 0.00001
NM_024649.5(BBS1):c.436C>T (p.Arg146Ter) rs786204444 0.00001
NM_024649.5(BBS1):c.851del (p.Tyr284fs) rs587777830 0.00001
NM_024685.4(BBS10):c.1407T>G (p.Tyr469Ter) rs1356713858 0.00001
NM_031885.5(BBS2):c.1438C>T (p.Arg480Ter) rs778090540 0.00001
NM_031885.5(BBS2):c.175C>T (p.Gln59Ter) rs121908176 0.00001
NM_031885.5(BBS2):c.1864C>T (p.Arg622Ter) rs201196733 0.00001
NM_031885.5(BBS2):c.563del (p.Ile188fs) rs1367927635 0.00001
NM_031885.5(BBS2):c.565C>T (p.Arg189Ter) rs1273181642 0.00001
NM_031885.5(BBS2):c.646C>T (p.Arg216Ter) rs121908180 0.00001
NM_031885.5(BBS2):c.700C>T (p.Arg234Ter) rs779690256 0.00001
NM_152384.3(BBS5):c.214G>A (p.Gly72Ser) rs121908581 0.00001
NM_152384.3(BBS5):c.265C>T (p.Arg89Ter) rs772757329 0.00001
NM_170784.3(MKKS):c.748G>A (p.Gly250Arg) rs768929313 0.00001
NM_176824.3(BBS7):c.728G>A (p.Cys243Tyr) rs727503821 0.00001
NC_000003.11:g.(97487075_97499002)_(97520087_?)del
NC_000007.13:g.(33192464_33195249)_(33195315_33217089)del
NC_000011.9:g.(66278711_66281876)_(66291354_66293593)del
NC_000015.9:g.(72987570_73002040)_(73004649_73007631)del
NC_000015.9:g.(73002121_73004584)_(73004649_73007631)del
NM_006642.5(SDCCAG8):c.1420del (p.Glu474fs) rs397515335
NM_024649.5(BBS1):c.1097T>A (p.Val366Asp)
NM_024649.5(BBS1):c.1285C>T (p.Arg429Ter) rs768443448
NM_024649.5(BBS1):c.223_224del (p.Leu75fs) rs1057516451
NM_024649.5(BBS1):c.432+1G>A rs587777829
NM_024649.5(BBS1):c.951+1G>A rs746875134
NM_024685.4(BBS10):c.1091del (p.Asn364fs) rs727503818
NM_024685.4(BBS10):c.1495G>T (p.Glu499Ter) rs898539189
NM_024685.4(BBS10):c.1599_1602del (p.Thr534fs) rs770556842
NM_024685.4(BBS10):c.1676dup (p.Tyr559Ter) rs1565809478
NM_024685.4(BBS10):c.1677C>A (p.Tyr559Ter) rs375413604
NM_024685.4(BBS10):c.1956C>G (p.Tyr652Ter)
NM_024685.4(BBS10):c.2119_2120del (p.Thr706_Val707insTer) rs775950661
NM_024685.4(BBS10):c.271dup (p.Cys91fs) rs549625604
NM_024685.4(BBS10):c.909_912del (p.Ser303fs) rs780059308
NM_024685.4(BBS10):c.9_15delinsGC (p.Ser3fs) rs2136091654
NM_031885.5(BBS2):c.1015C>T (p.Arg339Ter) rs193922710
NM_031885.5(BBS2):c.1808_1809del (p.Tyr603fs) rs1964134678
NM_031885.5(BBS2):c.661del (p.Leu221fs) rs770258677
NM_033028.5(BBS4):c.642+2T>G
NM_152384.3(BBS5):c.522+3A>G rs587777828
NM_152618.3(BBS12):c.1204C>T (p.Gln402Ter)
NM_152618.3(BBS12):c.1589T>C (p.Leu530Pro)
NM_170784.3(MKKS):c.885dup (p.Val296fs)
NM_176824.3(BBS7):c.569dup (p.Thr191fs)

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