ClinVar Miner

List of variants in gene BBS12 reported as pathogenic for Bardet-Biedl syndrome

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Gene type:
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Total variants: 119
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HGVS dbSNP gnomAD frequency
NM_152618.3(BBS12):c.1502C>T (p.Thr501Met) rs138011813 0.00020
NM_152618.3(BBS12):c.1237C>G (p.Leu413Val) rs758217005 0.00012
NM_152618.3(BBS12):c.1055A>C (p.Gln352Pro) rs767068756 0.00005
NM_152618.3(BBS12):c.1092del (p.Glu365fs) rs770218590 0.00003
NM_152618.3(BBS12):c.104C>A (p.Ser35Ter) rs1381368546 0.00001
NM_152618.3(BBS12):c.1063C>T (p.Arg355Ter) rs121918327 0.00001
NM_152618.3(BBS12):c.1375C>T (p.Gln459Ter) rs1269565757 0.00001
NM_152618.3(BBS12):c.1504G>T (p.Ala502Ser) rs142593414 0.00001
NM_152618.3(BBS12):c.1574G>A (p.Arg525His) rs776730549 0.00001
NM_152618.3(BBS12):c.2023C>T (p.Arg675Ter) rs752202089 0.00001
NM_152618.3(BBS12):c.445C>T (p.Gln149Ter) rs1194574169 0.00001
NM_152618.3(BBS12):c.640C>T (p.Arg214Ter) rs745448288 0.00001
NM_152618.3(BBS12):c.65T>C (p.Phe22Ser) rs565073445 0.00001
NM_152618.3(BBS12):c.664dup (p.Ala222fs) rs1800897309 0.00001
NM_152618.3(BBS12):c.682_683insT (p.Gln228fs) rs770872200 0.00001
NM_152618.3(BBS12):c.898C>T (p.Gln300Ter) rs754448484 0.00001
NC_000004.11:g.(?_123663048)_(123665180_?)del
NC_000004.12:g.(?_122741883)_(122744035_?)del
NM_152618.3(BBS12):c.1007del (p.Thr336fs)
NM_152618.3(BBS12):c.1009_1010del (p.Val337fs) rs1553941369
NM_152618.3(BBS12):c.1048C>T (p.Gln350Ter) rs1375925950
NM_152618.3(BBS12):c.1069_1097del (p.Val357fs)
NM_152618.3(BBS12):c.1082_1083insGGGT (p.Asp362fs) rs2150736842
NM_152618.3(BBS12):c.1082del (p.Gly361fs) rs1057517193
NM_152618.3(BBS12):c.1083delinsGGGTG (p.Asp362fs) rs1800908907
NM_152618.3(BBS12):c.1088_1089del (p.Leu363fs) rs2150736854
NM_152618.3(BBS12):c.1115_1116del (p.Gly371_Phe372insTer) rs587777803
NM_152618.3(BBS12):c.1117_1118insT (p.Asn373fs)
NM_152618.3(BBS12):c.1149del (p.Asp383fs)
NM_152618.3(BBS12):c.1151del (p.Ser384fs) rs1553941404
NM_152618.3(BBS12):c.1175C>G (p.Ser392Ter) rs747159816
NM_152618.3(BBS12):c.1186_1187del (p.Trp396fs)
NM_152618.3(BBS12):c.1188G>A (p.Trp396Ter)
NM_152618.3(BBS12):c.1193dup (p.Asn398fs) rs2150736986
NM_152618.3(BBS12):c.1204C>T (p.Gln402Ter)
NM_152618.3(BBS12):c.1208dup (p.Leu404fs)
NM_152618.3(BBS12):c.1246G>T (p.Gly416Ter)
NM_152618.3(BBS12):c.1267del (p.Ile423fs) rs1578491135
NM_152618.3(BBS12):c.1277G>A (p.Cys426Tyr) rs886059058
NM_152618.3(BBS12):c.1287_1290del (p.Lys430fs) rs766741204
NM_152618.3(BBS12):c.1320_1326dup (p.Gln443fs) rs1553941433
NM_152618.3(BBS12):c.1372dup (p.Thr458fs) rs1195341481
NM_152618.3(BBS12):c.1392_1395del (p.Cys464fs) rs2150737232
NM_152618.3(BBS12):c.1394_1395del (p.Val465fs) rs2150737232
NM_152618.3(BBS12):c.1455del (p.Asn485fs) rs2150737331
NM_152618.3(BBS12):c.1463_1464del (p.Ile488fs) rs2150737344
NM_152618.3(BBS12):c.1480dup (p.Thr494fs)
NM_152618.3(BBS12):c.1515_1518del (p.Asn506fs)
NM_152618.3(BBS12):c.1522_1523insGG (p.Val508fs)
NM_152618.3(BBS12):c.1531_1539del (p.Gln511_Gln513del) rs752762669
NM_152618.3(BBS12):c.1554del (p.Arg518fs)
NM_152618.3(BBS12):c.1559G>A (p.Trp520Ter)
NM_152618.3(BBS12):c.1577dup (p.Leu526fs) rs1800926856
NM_152618.3(BBS12):c.1589T>C (p.Leu530Pro)
NM_152618.3(BBS12):c.1616G>A (p.Gly539Asp) rs755314355
NM_152618.3(BBS12):c.1616del (p.Gly539fs)
NM_152618.3(BBS12):c.1619G>T (p.Gly540Val) rs1010403072
NM_152618.3(BBS12):c.1626del (p.Glu543fs)
NM_152618.3(BBS12):c.1627G>A (p.Glu543Lys) rs1800928868
NM_152618.3(BBS12):c.1663_1667del (p.Glu555fs) rs2150737598
NM_152618.3(BBS12):c.1672_1673del (p.Leu558fs)
NM_152618.3(BBS12):c.1673del (p.Leu558fs)
NM_152618.3(BBS12):c.168del (p.Glu58fs)
NM_152618.3(BBS12):c.1705del (p.Leu569fs) rs2150737655
NM_152618.3(BBS12):c.1719del (p.Ser574fs)
NM_152618.3(BBS12):c.1724G>A (p.Trp575Ter) rs2150737680
NM_152618.3(BBS12):c.172G>T (p.Glu58Ter) rs759455327
NM_152618.3(BBS12):c.1733C>A (p.Ser578Ter) rs1800931751
NM_152618.3(BBS12):c.1756del (p.Thr586fs)
NM_152618.3(BBS12):c.1786C>T (p.Gln596Ter)
NM_152618.3(BBS12):c.1799C>G (p.Ser600Ter)
NM_152618.3(BBS12):c.1813_1814del (p.Asn605fs) rs764074545
NM_152618.3(BBS12):c.1816_1817del (p.Thr606fs)
NM_152618.3(BBS12):c.1827C>G (p.Tyr609Ter) rs1800933874
NM_152618.3(BBS12):c.1893_1894del (p.Pro632fs) rs1560708847
NM_152618.3(BBS12):c.189del (p.Ser64fs) rs2150735961
NM_152618.3(BBS12):c.1918del (p.Tyr640fs)
NM_152618.3(BBS12):c.1920_1921del (p.Tyr640_Ser641delinsTer)
NM_152618.3(BBS12):c.1949C>G (p.Ser650Ter) rs1553941580
NM_152618.3(BBS12):c.1949del (p.Asn649_Ser650insTer) rs1444062882
NM_152618.3(BBS12):c.202C>T (p.Gln68Ter)
NM_152618.3(BBS12):c.2036del (p.Asp678_Leu679insTer)
NM_152618.3(BBS12):c.2043_2052del (p.Leu681fs)
NM_152618.3(BBS12):c.2053C>T (p.Gln685Ter) rs746020725
NM_152618.3(BBS12):c.2060_2063del (p.Asp687fs) rs746478265
NM_152618.3(BBS12):c.2068dup (p.Ile690fs)
NM_152618.3(BBS12):c.2092_2093del (p.Gln698fs)
NM_152618.3(BBS12):c.2099del (p.Asn700fs)
NM_152618.3(BBS12):c.223del (p.Gln75fs)
NM_152618.3(BBS12):c.265_266del (p.Leu89fs) rs1397714772
NM_152618.3(BBS12):c.270del (p.Val92fs) rs1173504533
NM_152618.3(BBS12):c.27_30del (p.Asn9fs) rs2150735761
NM_152618.3(BBS12):c.323C>G (p.Pro108Arg) rs151344630
NM_152618.3(BBS12):c.398del (p.Pro133fs) rs750185673
NM_152618.3(BBS12):c.420_423del (p.Cys140fs)
NM_152618.3(BBS12):c.422dup (p.Met141fs) rs1800890010
NM_152618.3(BBS12):c.424dup (p.Asp142fs) rs1553941258
NM_152618.3(BBS12):c.427del (p.Ser143fs)
NM_152618.3(BBS12):c.469_470del (p.Leu157fs) rs2150736228
NM_152618.3(BBS12):c.476del (p.Pro159fs)
NM_152618.3(BBS12):c.49dup (p.Gln17fs) rs756061536
NM_152618.3(BBS12):c.572_576del (p.Gly191fs)
NM_152618.3(BBS12):c.58del (p.Ser20fs) rs2150735809
NM_152618.3(BBS12):c.590_591del (p.Ser196_Tyr197insTer) rs1560706958
NM_152618.3(BBS12):c.655_658del (p.Ser219fs)
NM_152618.3(BBS12):c.670dup (p.Thr224fs) rs1339432710
NM_152618.3(BBS12):c.682C>T (p.Gln228Ter) rs769588983
NM_152618.3(BBS12):c.694dup (p.Ile232fs) rs2150736431
NM_152618.3(BBS12):c.760G>T (p.Glu254Ter) rs1553941304
NM_152618.3(BBS12):c.780_781del (p.His260fs) rs865920726
NM_152618.3(BBS12):c.789C>A (p.Tyr263Ter) rs974173261
NM_152618.3(BBS12):c.80del (p.Arg27fs)
NM_152618.3(BBS12):c.867_874del (p.Val290fs) rs2150736605
NM_152618.3(BBS12):c.869_873del (p.Val290fs) rs1283655166
NM_152618.3(BBS12):c.890_893del (p.Ala297fs) rs2150736616
NM_152618.3(BBS12):c.911_912del (p.Cys304fs) rs2150736648
NM_152618.3(BBS12):c.925_926del (p.Met309fs) rs1800904262
NM_152618.3(BBS12):c.940A>G (p.Arg314Gly) rs749107412
NM_152618.3(BBS12):c.95del (p.Pro32fs)

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