ClinVar Miner

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

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Total variants: 46
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HGVS dbSNP gnomAD frequency
NM_033028.5(BBS4):c.1440dup (p.Leu481fs) rs780269741 0.00006
NM_033028.5(BBS4):c.712-1G>A rs377031435 0.00003
NM_024649.5(BBS1):c.1110+329C>T rs571170303 0.00002
NM_024685.4(BBS10):c.1838A>G (p.Tyr613Cys) rs575957641 0.00002
NM_001278293.3(ARL6):c.362G>A (p.Arg121His) rs765715798 0.00001
NM_024649.5(BBS1):c.1553T>C (p.Leu518Pro) rs121917778 0.00001
NM_024649.5(BBS1):c.442G>A (p.Asp148Asn) rs200688985 0.00001
NM_024685.4(BBS10):c.1184dup (p.His395fs) rs786204573 0.00001
NM_031885.5(BBS2):c.2107C>T (p.Arg703Ter) rs567573386 0.00001
NM_033028.5(BBS4):c.1A>G (p.Met1Val) rs773109542 0.00001
NM_152384.3(BBS5):c.413G>A (p.Arg138His) rs179363897 0.00001
NC_000001.10:g.(243507634_243542022)_(243542166_243579003)del
NC_000001.10:g.(243542166_243579003)_(243579132_243581269)del
NC_000003.11:g.(97483822_97485475)_(97487075_97499002)del
NC_000003.11:g.(97487075_97499002)_(97499065_97499458)dup
NC_000007.13:g.(33376235_33380508)_(33380586_33384192)del
NC_000007.13:g.(33427757_33545074)_(33573789_33644476)del
NM_006642.5(SDCCAG8):c.1356+1G>C rs2147782314
NM_006642.5(SDCCAG8):c.1748del (p.Asn583fs)
NM_006642.5(SDCCAG8):c.567G>A (p.Trp189Ter) rs797045948
NM_006642.5(SDCCAG8):c.865_872dup (p.Val292fs)
NM_024649.5(BBS1):c.1131_1135del (p.Cys377fs) rs786204701
NM_024649.5(BBS1):c.1570_1572del (p.Asn524del) rs863224782
NM_024649.5(BBS1):c.913G>A (p.Gly305Ser)
NM_024685.4(BBS10):c.1184A>G (p.His395Arg) rs1368733646
NM_024685.4(BBS10):c.1189A>G (p.Ile397Val)
NM_024685.4(BBS10):c.179T>G (p.Leu60Ter) rs2136091512
NM_024685.4(BBS10):c.235dup (p.Thr79fs) rs760693838
NM_024685.4(BBS10):c.310_311del (p.Glu104fs) rs2136091244
NM_024685.4(BBS10):c.473C>A (p.Ser158Ter) rs553291328
NM_024685.4(BBS10):c.531C>A (p.Tyr177Ter) rs863224522
NM_031885.5(BBS2):c.1166_1169del (p.Val389fs) rs1964269329
NM_031885.5(BBS2):c.1206dup (p.Arg403fs) rs1964267396
NM_031885.5(BBS2):c.1371del (p.Lys458fs) rs2144143132
NM_031885.5(BBS2):c.1770del (p.Phe590fs) rs193922711
NM_031885.5(BBS2):c.1909_1910del (p.Met637fs) rs1555521379
NM_031885.5(BBS2):c.402del (p.Ala136fs) rs1368647604
NM_031885.5(BBS2):c.627_628del (p.Cys210fs) rs773417074
NM_033028.5(BBS4):c.1248+2T>C rs2151055229
NM_144596.4(TTC8):c.559C>T (p.Gln187Ter) rs376035653
NM_152384.3(BBS5):c.82G>T (p.Glu28Ter)
NM_152618.3(BBS12):c.1531_1539del (p.Gln511_Gln513del) rs752762669
NM_152618.3(BBS12):c.265_266del (p.Leu89fs) rs1397714772
NM_170784.3(MKKS):c.515_516del (p.Glu172fs) rs2064904675
NM_198428.3(BBS9):c.1277_1280del rs2128646927
NM_198428.3(BBS9):c.703-1G>C

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