ClinVar Miner

List of variants in gene combination BBS1, ZDHHC24 reported as likely benign for Bardet-Biedl syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 266
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HGVS dbSNP gnomAD frequency
NM_024649.5(BBS1):c.1181G>A (p.Gly394Asp) rs141528309 0.00096
NM_024649.5(BBS1):c.724-16C>T rs141332689 0.00081
NM_024649.5(BBS1):c.1194C>A (p.Ile398=) rs200577824 0.00023
NM_024649.5(BBS1):c.1474-8C>T rs398124402 0.00013
NM_024649.5(BBS1):c.981C>T (p.Pro327=) rs142243482 0.00011
NM_024649.5(BBS1):c.1059A>G (p.Gly353=) rs199692416 0.00009
NM_024649.5(BBS1):c.1110+15C>T rs371084544 0.00009
NM_024649.5(BBS1):c.1404G>A (p.Leu468=) rs140013934 0.00009
NM_024649.5(BBS1):c.1634A>G (p.Asn545Ser) rs148948642 0.00009
NM_024649.5(BBS1):c.738C>T (p.Ser246=) rs775266312 0.00006
NM_024649.5(BBS1):c.744C>T (p.Pro248=) rs528073027 0.00006
NM_024649.5(BBS1):c.858C>T (p.Ile286=) rs746775716 0.00006
NM_024649.5(BBS1):c.951+7C>A rs780784789 0.00006
NM_024649.5(BBS1):c.1035C>T (p.Ala345=) rs779935398 0.00005
NM_024649.5(BBS1):c.1773G>A (p.Ala591=) rs147783319 0.00005
NM_024649.5(BBS1):c.1474-14C>T rs369972079 0.00004
NM_024649.5(BBS1):c.750C>T (p.Phe250=) rs750108791 0.00004
NM_024649.5(BBS1):c.830+12C>T rs781283997 0.00004
NM_024649.5(BBS1):c.840G>C (p.Lys280Asn) rs780169168 0.00004
NM_024649.5(BBS1):c.1111-13C>T rs768620927 0.00003
NM_024649.5(BBS1):c.1338C>T (p.Thr446=) rs368302072 0.00003
NM_024649.5(BBS1):c.1371C>T (p.Tyr457=) rs781014949 0.00003
NM_024649.5(BBS1):c.1485T>C (p.Leu495=) rs373894194 0.00003
NM_024649.5(BBS1):c.1380C>A (p.Arg460=) rs1167767003 0.00002
NM_024649.5(BBS1):c.1474-19C>T rs755940643 0.00002
NM_024649.5(BBS1):c.1533C>G (p.Thr511=) rs112953332 0.00002
NM_024649.5(BBS1):c.1608+7G>A rs776545195 0.00002
NM_024649.5(BBS1):c.1695+9C>T rs756514477 0.00002
NM_024649.5(BBS1):c.724-15G>A rs376386231 0.00002
NM_024649.5(BBS1):c.939C>T (p.Gly313=) rs755023569 0.00002
NM_024649.5(BBS1):c.1006C>T (p.Leu336=) rs765494351 0.00001
NM_024649.5(BBS1):c.1111-12G>A rs774638549 0.00001
NM_024649.5(BBS1):c.1116A>G (p.Ala372=) rs1335578252 0.00001
NM_024649.5(BBS1):c.1143C>T (p.Tyr381=) rs1021331909 0.00001
NM_024649.5(BBS1):c.1181-14G>C rs747049051 0.00001
NM_024649.5(BBS1):c.1181-6C>T rs368445790 0.00001
NM_024649.5(BBS1):c.1197C>T (p.Ile399=) rs774005906 0.00001
NM_024649.5(BBS1):c.1266C>T (p.Ala422=) rs775519437 0.00001
NM_024649.5(BBS1):c.1302C>T (p.Tyr434=) rs1417786271 0.00001
NM_024649.5(BBS1):c.1320A>G (p.Arg440=) rs1430151544 0.00001
NM_024649.5(BBS1):c.1339+16G>A rs1347358462 0.00001
NM_024649.5(BBS1):c.1341C>T (p.Ala447=) rs934613283 0.00001
NM_024649.5(BBS1):c.1383A>G (p.Leu461=) rs557739576 0.00001
NM_024649.5(BBS1):c.1392C>T (p.Ala464=) rs1178616571 0.00001
NM_024649.5(BBS1):c.1395C>T (p.Arg465=) rs756550025 0.00001
NM_024649.5(BBS1):c.1437C>T (p.Ser479=) rs1856697260 0.00001
NM_024649.5(BBS1):c.1440G>A (p.Thr480=) rs751466006 0.00001
NM_024649.5(BBS1):c.1467C>T (p.His489=) rs749008475 0.00001
NM_024649.5(BBS1):c.1470C>T (p.Ala490=) rs772427832 0.00001
NM_024649.5(BBS1):c.1554G>T (p.Leu518=) rs760568652 0.00001
NM_024649.5(BBS1):c.1572C>T (p.Asn524=) rs757866253 0.00001
NM_024649.5(BBS1):c.1578G>A (p.Ala526=) rs373397428 0.00001
NM_024649.5(BBS1):c.1615T>C (p.Leu539=) rs1727051374 0.00001
NM_024649.5(BBS1):c.1626A>G (p.Pro542=) rs780444865 0.00001
NM_024649.5(BBS1):c.1671C>T (p.Asn557=) rs1179878578 0.00001
NM_024649.5(BBS1):c.1696-9C>T rs1363840770 0.00001
NM_024649.5(BBS1):c.1743C>T (p.His581=) rs61890368 0.00001
NM_024649.5(BBS1):c.1776C>T (p.Ala592=) rs1489468740 0.00001
NM_024649.5(BBS1):c.771T>C (p.Phe257=) rs367686869 0.00001
NM_024649.5(BBS1):c.792C>T (p.Ala264=) rs770901594 0.00001
NM_024649.5(BBS1):c.795G>A (p.Ala265=) rs550508776 0.00001
NM_024649.5(BBS1):c.798C>G (p.Ala266=) rs1408073931 0.00001
NM_024649.5(BBS1):c.849G>A (p.Lys283=) rs1208056864 0.00001
NM_024649.5(BBS1):c.867C>T (p.Ser289=) rs776322401 0.00001
NM_024649.5(BBS1):c.931C>T (p.Leu311=) rs1256532742 0.00001
NM_024649.5(BBS1):c.948C>T (p.His316=) rs777721856 0.00001
NM_024649.5(BBS1):c.951+10C>T rs745672331 0.00001
NM_024649.5(BBS1):c.952-19G>A rs200350565 0.00001
NM_024649.5(BBS1):c.952-20C>T rs1189838889 0.00001
NM_024649.5(BBS1):c.1008G>A (p.Leu336=)
NM_024649.5(BBS1):c.1014G>A (p.Gln338=)
NM_024649.5(BBS1):c.1017T>C (p.His339=)
NM_024649.5(BBS1):c.1026C>T (p.Gly342=) rs2134797305
NM_024649.5(BBS1):c.1038C>A (p.Val346=)
NM_024649.5(BBS1):c.1047G>A (p.Gly349=)
NM_024649.5(BBS1):c.1050G>A (p.Leu350=)
NM_024649.5(BBS1):c.1062G>A (p.Glu354=) rs773617456
NM_024649.5(BBS1):c.1086C>T (p.Ala362=)
NM_024649.5(BBS1):c.1107C>G (p.Thr369=)
NM_024649.5(BBS1):c.1107C>T (p.Thr369=) rs2134797905
NM_024649.5(BBS1):c.1110+10A>G
NM_024649.5(BBS1):c.1110+12C>A
NM_024649.5(BBS1):c.1110+13_1110+14del
NM_024649.5(BBS1):c.1110+14C>G
NM_024649.5(BBS1):c.1110+16G>A
NM_024649.5(BBS1):c.1110+19A>T
NM_024649.5(BBS1):c.1110+20T>A rs1590767738
NM_024649.5(BBS1):c.1110+9C>T
NM_024649.5(BBS1):c.1111-10C>T rs1856477734
NM_024649.5(BBS1):c.1111-17_1111-16del
NM_024649.5(BBS1):c.1111-18T>G
NM_024649.5(BBS1):c.1111-4A>G
NM_024649.5(BBS1):c.1111-5C>A
NM_024649.5(BBS1):c.1111-6A>G
NM_024649.5(BBS1):c.1111-6A>T
NM_024649.5(BBS1):c.1111-8C>T rs2134809182
NM_024649.5(BBS1):c.1113T>C (p.Asp371=)
NM_024649.5(BBS1):c.1122C>G (p.Thr374=)
NM_024649.5(BBS1):c.1122C>T (p.Thr374=)
NM_024649.5(BBS1):c.1125C>T (p.Ser375=)
NM_024649.5(BBS1):c.1134T>C (p.Phe378=) rs2134809483
NM_024649.5(BBS1):c.1140G>T (p.Arg380=) rs959671412
NM_024649.5(BBS1):c.1149G>A (p.Arg383=)
NM_024649.5(BBS1):c.1180+17C>T
NM_024649.5(BBS1):c.1180+20G>C
NM_024649.5(BBS1):c.1181-10A>G
NM_024649.5(BBS1):c.1181-17A>G
NM_024649.5(BBS1):c.1181-4C>A rs1856511238
NM_024649.5(BBS1):c.1188C>T (p.Gly396=)
NM_024649.5(BBS1):c.1189C>T (p.Leu397=) rs1856512452
NM_024649.5(BBS1):c.1194C>T (p.Ile398=) rs200577824
NM_024649.5(BBS1):c.1200G>A (p.Lys400=) rs761389294
NM_024649.5(BBS1):c.1203C>T (p.Ile401=) rs2134812233
NM_024649.5(BBS1):c.1212T>A (p.Arg404=)
NM_024649.5(BBS1):c.1215A>G (p.Thr405=)
NM_024649.5(BBS1):c.1221G>A (p.Val407=)
NM_024649.5(BBS1):c.1224T>C (p.Phe408=)
NM_024649.5(BBS1):c.1245G>A (p.Val415=) rs1590772951
NM_024649.5(BBS1):c.1251C>T (p.Pro417=)
NM_024649.5(BBS1):c.1284C>G (p.Pro428=)
NM_024649.5(BBS1):c.1284C>T (p.Pro428=)
NM_024649.5(BBS1):c.1293C>T (p.Thr431=)
NM_024649.5(BBS1):c.1315C>T (p.Leu439=)
NM_024649.5(BBS1):c.1318C>A (p.Arg440=)
NM_024649.5(BBS1):c.1335C>T (p.Gly445=)
NM_024649.5(BBS1):c.1339+15G>A
NM_024649.5(BBS1):c.1339+16G>C
NM_024649.5(BBS1):c.1339+20C>A
NM_024649.5(BBS1):c.1339+7C>G
NM_024649.5(BBS1):c.1340-10T>G rs2134830571
NM_024649.5(BBS1):c.1340-13C>T
NM_024649.5(BBS1):c.1340-5C>T
NM_024649.5(BBS1):c.1340-6C>T
NM_024649.5(BBS1):c.1341C>A (p.Ala447=)
NM_024649.5(BBS1):c.1348C>A (p.Arg450=) rs746824022
NM_024649.5(BBS1):c.1353C>T (p.Ala451=)
NM_024649.5(BBS1):c.1356C>T (p.Phe452=) rs2134830713
NM_024649.5(BBS1):c.1362A>G (p.Thr454=) rs1198392457
NM_024649.5(BBS1):c.1365C>T (p.Asp455=) rs2134830735
NM_024649.5(BBS1):c.1392C>G (p.Ala464=)
NM_024649.5(BBS1):c.1401C>T (p.Tyr467=)
NM_024649.5(BBS1):c.1410C>G (p.Ala470=) rs1856695729
NM_024649.5(BBS1):c.1413C>A (p.Leu471=) rs3816492
NM_024649.5(BBS1):c.1413C>G (p.Leu471=) rs3816492
NM_024649.5(BBS1):c.1419C>T (p.Ser473=)
NM_024649.5(BBS1):c.1446C>A (p.Ala482=)
NM_024649.5(BBS1):c.1446C>T (p.Ala482=) rs553123090
NM_024649.5(BBS1):c.1452G>A (p.Glu484=)
NM_024649.5(BBS1):c.1455A>G (p.Pro485=) rs2134831283
NM_024649.5(BBS1):c.1464G>T (p.Leu488=) rs1239688580
NM_024649.5(BBS1):c.1473+16A>T rs573129342
NM_024649.5(BBS1):c.1473+16_1473+18dup rs748694674
NM_024649.5(BBS1):c.1473+20C>T
NM_024649.5(BBS1):c.1473+7del
NM_024649.5(BBS1):c.1473+9C>A
NM_024649.5(BBS1):c.1474-10C>T
NM_024649.5(BBS1):c.1474-11C>T
NM_024649.5(BBS1):c.1474-16C>T
NM_024649.5(BBS1):c.1474-18C>T rs2134836485
NM_024649.5(BBS1):c.1474-7T>C
NM_024649.5(BBS1):c.1512C>T (p.His504=) rs1301583558
NM_024649.5(BBS1):c.1524C>T (p.Thr508=) rs2134836921
NM_024649.5(BBS1):c.1533C>T (p.Thr511=) rs112953332
NM_024649.5(BBS1):c.1548G>A (p.Gly516=)
NM_024649.5(BBS1):c.1548G>C (p.Gly516=) rs763101401
NM_024649.5(BBS1):c.1549C>T (p.Leu517=)
NM_024649.5(BBS1):c.1551G>A (p.Leu517=) rs767601210
NM_024649.5(BBS1):c.1551G>C (p.Leu517=) rs767601210
NM_024649.5(BBS1):c.1554G>C (p.Leu518=) rs760568652
NM_024649.5(BBS1):c.1557C>A (p.Val519=) rs370356893
NM_024649.5(BBS1):c.1560C>T (p.Cys520=)
NM_024649.5(BBS1):c.1563C>T (p.Phe521=)
NM_024649.5(BBS1):c.1578G>T (p.Ala526=) rs373397428
NM_024649.5(BBS1):c.1581C>G (p.Leu527=)
NM_024649.5(BBS1):c.1596G>A (p.Arg532=) rs1299530387
NM_024649.5(BBS1):c.1602C>T (p.Phe534=)
NM_024649.5(BBS1):c.1605C>T (p.Phe535=)
NM_024649.5(BBS1):c.1608+16C>T rs2134837630
NM_024649.5(BBS1):c.1608+8A>G rs2134837603
NM_024649.5(BBS1):c.1608+8A>T
NM_024649.5(BBS1):c.1608+9T>C rs2134837615
NM_024649.5(BBS1):c.1609-10C>G
NM_024649.5(BBS1):c.1609-14G>T
NM_024649.5(BBS1):c.1609-4T>A
NM_024649.5(BBS1):c.1609-9C>T rs1181236498
NM_024649.5(BBS1):c.1614C>T (p.Pro538=)
NM_024649.5(BBS1):c.1632C>T (p.Leu544=)
NM_024649.5(BBS1):c.1638C>T (p.Tyr546=) rs1856787758
NM_024649.5(BBS1):c.1641C>A (p.Pro547=) rs770947454
NM_024649.5(BBS1):c.1641C>G (p.Pro547=) rs770947454
NM_024649.5(BBS1):c.1641C>T (p.Pro547=)
NM_024649.5(BBS1):c.1668T>C (p.Ser556=)
NM_024649.5(BBS1):c.1683A>G (p.Ser561=) rs1856790888
NM_024649.5(BBS1):c.1692C>T (p.Ile564=) rs2134841325
NM_024649.5(BBS1):c.1696-13C>T
NM_024649.5(BBS1):c.1696-14C>A
NM_024649.5(BBS1):c.1696-16G>A
NM_024649.5(BBS1):c.1696-4A>G
NM_024649.5(BBS1):c.1696-5C>T rs2134842580
NM_024649.5(BBS1):c.1696-6C>T
NM_024649.5(BBS1):c.1696-7T>C
NM_024649.5(BBS1):c.1701G>C (p.Leu567=)
NM_024649.5(BBS1):c.1701G>T (p.Leu567=)
NM_024649.5(BBS1):c.1728C>T (p.Pro576=) rs779302298
NM_024649.5(BBS1):c.1734G>A (p.Leu578=)
NM_024649.5(BBS1):c.1734G>C (p.Leu578=) rs2134842985
NM_024649.5(BBS1):c.1740C>T (p.Ala580=) rs2134843050
NM_024649.5(BBS1):c.1755T>C (p.Pro585=)
NM_024649.5(BBS1):c.1758G>T (p.Gly586=)
NM_024649.5(BBS1):c.1761C>T (p.Ser587=)
NM_024649.5(BBS1):c.1764G>A (p.Glu588=) rs2134843313
NM_024649.5(BBS1):c.1779C>T (p.Ala593=) rs1262928353
NM_024649.5(BBS1):c.1781G>A (p.Ter594=) rs1475796233
NM_024649.5(BBS1):c.724-13T>G
NM_024649.5(BBS1):c.724-15G>T
NM_024649.5(BBS1):c.724-17G>T
NM_024649.5(BBS1):c.724-17dup
NM_024649.5(BBS1):c.724-18T>A
NM_024649.5(BBS1):c.724-18T>C
NM_024649.5(BBS1):c.724-20T>G
NM_024649.5(BBS1):c.724-4G>A
NM_024649.5(BBS1):c.724-8_724-6del
NM_024649.5(BBS1):c.724-9T>C rs1590762249
NM_024649.5(BBS1):c.729C>T (p.Ser243=)
NM_024649.5(BBS1):c.751C>T (p.Leu251=)
NM_024649.5(BBS1):c.777T>C (p.Val259=) rs2134784755
NM_024649.5(BBS1):c.780G>A (p.Glu260=)
NM_024649.5(BBS1):c.783C>T (p.Phe261=)
NM_024649.5(BBS1):c.816C>T (p.Ile272=) rs1856208944
NM_024649.5(BBS1):c.830+10T>C
NM_024649.5(BBS1):c.830+10T>G rs2134785089
NM_024649.5(BBS1):c.830+12del rs1343720111
NM_024649.5(BBS1):c.830+13G>A
NM_024649.5(BBS1):c.830+16G>A
NM_024649.5(BBS1):c.830+20C>G
NM_024649.5(BBS1):c.830+9A>G
NM_024649.5(BBS1):c.830+9A>T rs2134785082
NM_024649.5(BBS1):c.831-13_831-11del
NM_024649.5(BBS1):c.831-15T>G rs1293446597
NM_024649.5(BBS1):c.831-18G>A
NM_024649.5(BBS1):c.831-18G>C
NM_024649.5(BBS1):c.831-19T>C
NM_024649.5(BBS1):c.831-20G>A rs1856334164
NM_024649.5(BBS1):c.831-4A>G rs2134794642
NM_024649.5(BBS1):c.837C>T (p.Ser279=) rs2134794684
NM_024649.5(BBS1):c.843C>T (p.His281=)
NM_024649.5(BBS1):c.873G>A (p.Gln291=) rs547524683
NM_024649.5(BBS1):c.888C>T (p.Ile296=)
NM_024649.5(BBS1):c.903C>T (p.Val301=) rs2134795241
NM_024649.5(BBS1):c.904C>T (p.Leu302=)
NM_024649.5(BBS1):c.921C>G (p.Thr307=) rs2134795441
NM_024649.5(BBS1):c.930C>T (p.Ser310=) rs901307899
NM_024649.5(BBS1):c.942C>T (p.Phe314=)
NM_024649.5(BBS1):c.945C>A (p.Thr315=) rs2134795565
NM_024649.5(BBS1):c.951+16AGC[2]
NM_024649.5(BBS1):c.952-12G>A
NM_024649.5(BBS1):c.952-15G>A
NM_024649.5(BBS1):c.952-16G>A
NM_024649.5(BBS1):c.952-18C>T
NM_024649.5(BBS1):c.952-20C>A rs1189838889
NM_024649.5(BBS1):c.952-5G>A rs2134796694
NM_024649.5(BBS1):c.952-7C>G rs1590767187
NM_024649.5(BBS1):c.952-7C>T rs1590767187
NM_024649.5(BBS1):c.952-9C>T
NM_024649.5(BBS1):c.987C>T (p.Ala329=)
NM_024649.5(BBS1):c.996C>G (p.Thr332=)

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