ClinVar Miner

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

Included ClinVar conditions (45):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 280
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HGVS dbSNP gnomAD frequency
NM_152618.3(BBS12):c.*187dup rs386401352 0.19865
NM_001178007.1(BBS12):c.-391C>T rs28642232 0.06726
NM_152618.3(BBS12):c.1381A>C (p.Asn461His) rs10027479 0.02523
NM_152618.3(BBS12):c.714T>G (p.Asn238Lys) rs17006082 0.00860
NM_152618.3(BBS12):c.116T>C (p.Ile39Thr) rs138036823 0.00577
NM_152618.3(BBS12):c.1103G>A (p.Arg368His) rs78457123 0.00511
NM_152618.3(BBS12):c.355G>A (p.Gly119Ser) rs77731085 0.00439
NM_152618.3(BBS12):c.1451G>A (p.Arg484Lys) rs35690634 0.00435
NM_152618.3(BBS12):c.-61G>C rs59440868 0.00282
NM_152618.3(BBS12):c.212A>G (p.Asn71Ser) rs143960329 0.00220
NM_152618.3(BBS12):c.1979C>T (p.Pro660Leu) rs147281546 0.00047
NM_152618.3(BBS12):c.978T>A (p.Thr326=) rs115635198 0.00047
NM_152618.3(BBS12):c.1257C>T (p.Ser419=) rs34652786 0.00025
NM_152618.3(BBS12):c.1499T>C (p.Val500Ala) rs145392789 0.00022
NM_152618.3(BBS12):c.1467A>G (p.Ala489=) rs148850607 0.00009
NM_152618.3(BBS12):c.1185G>A (p.Leu395=) rs377611257 0.00008
NM_152618.3(BBS12):c.1506C>T (p.Ala502=) rs144855583 0.00007
NM_152618.3(BBS12):c.1980G>A (p.Pro660=) rs778953866 0.00007
NM_152618.3(BBS12):c.1323G>A (p.Val441=) rs766332688 0.00006
NM_152618.3(BBS12):c.882T>C (p.Tyr294=) rs766149148 0.00006
NM_152618.3(BBS12):c.1230C>T (p.Asn410=) rs142657474 0.00004
NM_152618.3(BBS12):c.1995T>C (p.Val665=) rs771980986 0.00004
NM_152618.3(BBS12):c.2100T>C (p.Asn700=) rs145847043 0.00004
NM_152618.3(BBS12):c.21C>T (p.Val7=) rs754702110 0.00004
NM_152618.3(BBS12):c.60A>G (p.Ser20=) rs759975718 0.00004
NM_152618.3(BBS12):c.69G>A (p.Ala23=) rs138579304 0.00004
NM_152618.3(BBS12):c.1197C>T (p.His399=) rs764483162 0.00003
NM_152618.3(BBS12):c.1608C>T (p.Phe536=) rs148277417 0.00003
NM_152618.3(BBS12):c.1101C>T (p.Tyr367=) rs775552494 0.00002
NM_152618.3(BBS12):c.1108C>T (p.Leu370=) rs777279530 0.00002
NM_152618.3(BBS12):c.1455C>T (p.Asn485=) rs769369013 0.00002
NM_152618.3(BBS12):c.1524T>C (p.Val508=) rs1404842497 0.00002
NM_152618.3(BBS12):c.1662A>G (p.Ala554=) rs1424604685 0.00002
NM_152618.3(BBS12):c.1830A>G (p.Ser610=) rs528535207 0.00002
NM_152618.3(BBS12):c.1845C>G (p.Ala615=) rs773424236 0.00002
NM_152618.3(BBS12):c.66C>T (p.Phe22=) rs150546366 0.00002
NM_152618.3(BBS12):c.75A>G (p.Thr25=) rs754811440 0.00002
NM_152618.3(BBS12):c.879A>G (p.Gln293=) rs981575853 0.00002
NM_152618.3(BBS12):c.1011T>C (p.Val337=) rs762298486 0.00001
NM_152618.3(BBS12):c.1074C>T (p.Leu358=) rs1162225747 0.00001
NM_152618.3(BBS12):c.1089C>A (p.Leu363=) rs745647149 0.00001
NM_152618.3(BBS12):c.1107C>T (p.His369=) rs375244084 0.00001
NM_152618.3(BBS12):c.1299A>G (p.Val433=) rs764582469 0.00001
NM_152618.3(BBS12):c.1302C>T (p.Ile434=) rs773214415 0.00001
NM_152618.3(BBS12):c.1425A>G (p.Arg475=) rs757311921 0.00001
NM_152618.3(BBS12):c.1464C>T (p.Ile488=) rs907927925 0.00001
NM_152618.3(BBS12):c.1512C>T (p.Leu504=) rs777299324 0.00001
NM_152618.3(BBS12):c.1521A>G (p.Pro507=) rs778636035 0.00001
NM_152618.3(BBS12):c.1554G>A (p.Arg518=) rs769108774 0.00001
NM_152618.3(BBS12):c.1590A>G (p.Leu530=) rs886059059 0.00001
NM_152618.3(BBS12):c.1623A>T (p.Ala541=) rs368003653 0.00001
NM_152618.3(BBS12):c.1809A>G (p.Leu603=) rs141393809 0.00001
NM_152618.3(BBS12):c.1884C>T (p.Asp628=) rs1463043869 0.00001
NM_152618.3(BBS12):c.1899A>G (p.Ser633=) rs892531107 0.00001
NM_152618.3(BBS12):c.18A>G (p.Arg6=) rs373705066 0.00001
NM_152618.3(BBS12):c.1998T>C (p.Val666=) rs1480476254 0.00001
NM_152618.3(BBS12):c.2001A>G (p.Thr667=) rs539331301 0.00001
NM_152618.3(BBS12):c.2016G>A (p.Ala672=) rs186713451 0.00001
NM_152618.3(BBS12):c.2115G>T (p.Thr705=) rs1578492538 0.00001
NM_152618.3(BBS12):c.237C>T (p.Asn79=) rs373273487 0.00001
NM_152618.3(BBS12):c.243T>C (p.Tyr81=) rs772942987 0.00001
NM_152618.3(BBS12):c.339A>T (p.Val113=) rs1180097077 0.00001
NM_152618.3(BBS12):c.34A>C (p.Arg12=) rs1292291520 0.00001
NM_152618.3(BBS12):c.438A>G (p.Thr146=) rs747471347 0.00001
NM_152618.3(BBS12):c.495A>G (p.Ser165=) rs973455617 0.00001
NM_152618.3(BBS12):c.624A>G (p.Ala208=) rs1423331367 0.00001
NM_152618.3(BBS12):c.63A>T (p.Ser21=) rs776279953 0.00001
NM_152618.3(BBS12):c.765T>C (p.His255=) rs185341959 0.00001
NM_152618.3(BBS12):c.789C>T (p.Tyr263=) rs974173261 0.00001
NM_152618.3(BBS12):c.802T>C (p.Leu268=) rs771195621 0.00001
NM_152618.3(BBS12):c.933C>T (p.Asp311=) rs777668587 0.00001
NM_152618.3(BBS12):c.942A>G (p.Arg314=) rs1800904511 0.00001
NM_152618.3(BBS12):c.1002T>C (p.Tyr334=) rs2150736743
NM_152618.3(BBS12):c.1005C>A (p.Ile335=)
NM_152618.3(BBS12):c.1014G>A (p.Val338=)
NM_152618.3(BBS12):c.1020A>G (p.Val340=)
NM_152618.3(BBS12):c.1020A>T (p.Val340=)
NM_152618.3(BBS12):c.1026T>C (p.Asn342=)
NM_152618.3(BBS12):c.1045T>C (p.Leu349=)
NM_152618.3(BBS12):c.1047G>A (p.Leu349=) rs1800907366
NM_152618.3(BBS12):c.1053T>C (p.Asn351=)
NM_152618.3(BBS12):c.1062G>A (p.Val354=) rs34296401
NM_152618.3(BBS12):c.1083T>A (p.Gly361=) rs2150736847
NM_152618.3(BBS12):c.1083T>G (p.Gly361=) rs2150736847
NM_152618.3(BBS12):c.108C>A (p.Ser36=)
NM_152618.3(BBS12):c.1095G>A (p.Glu365=) rs569907220
NM_152618.3(BBS12):c.1098T>C (p.Asn366=) rs2150736872
NM_152618.3(BBS12):c.1134T>A (p.Ile378=)
NM_152618.3(BBS12):c.1140A>C (p.Thr380=)
NM_152618.3(BBS12):c.1185G>T (p.Leu395=)
NM_152618.3(BBS12):c.1209G>C (p.Val403=) rs17006092
NM_152618.3(BBS12):c.1224G>A (p.Lys408=)
NM_152618.3(BBS12):c.1227G>C (p.Val409=) rs1800914880
NM_152618.3(BBS12):c.1233T>C (p.Leu411=)
NM_152618.3(BBS12):c.1239G>A (p.Leu413=)
NM_152618.3(BBS12):c.1251T>C (p.Asn417=)
NM_152618.3(BBS12):c.1254G>T (p.Val418=) rs2150737077
NM_152618.3(BBS12):c.1264T>C (p.Leu422=) rs2150737086
NM_152618.3(BBS12):c.129A>G (p.Glu43=) rs2150735912
NM_152618.3(BBS12):c.12T>C (p.Ala4=) rs1578489401
NM_152618.3(BBS12):c.1302C>A (p.Ile434=)
NM_152618.3(BBS12):c.1305C>T (p.Gly435=)
NM_152618.3(BBS12):c.1314T>C (p.Asn438=)
NM_152618.3(BBS12):c.1317C>A (p.Gly439=)
NM_152618.3(BBS12):c.1320T>C (p.Ser440=) rs2150737145
NM_152618.3(BBS12):c.1356A>G (p.Val452=) rs1264207326
NM_152618.3(BBS12):c.135T>C (p.His45=) rs916863378
NM_152618.3(BBS12):c.1362G>T (p.Val454=) rs1800918797
NM_152618.3(BBS12):c.1365C>A (p.Ala455=) rs1191099924
NM_152618.3(BBS12):c.1368C>T (p.Tyr456=) rs2150737194
NM_152618.3(BBS12):c.1380G>A (p.Val460=) rs13135766
NM_152618.3(BBS12):c.1386A>G (p.Glu462=)
NM_152618.3(BBS12):c.1389T>C (p.Asp463=) rs1578491378
NM_152618.3(BBS12):c.1395G>A (p.Val465=) rs2150737249
NM_152618.3(BBS12):c.1401C>T (p.Asp467=) rs1578491425
NM_152618.3(BBS12):c.1407C>G (p.Val469=) rs1800921145
NM_152618.3(BBS12):c.1407C>T (p.Val469=)
NM_152618.3(BBS12):c.141T>C (p.Ser47=)
NM_152618.3(BBS12):c.1428C>T (p.Ser476=)
NM_152618.3(BBS12):c.1446A>G (p.Val482=)
NM_152618.3(BBS12):c.1449T>C (p.Asp483=) rs2150737320
NM_152618.3(BBS12):c.1459A>C (p.Arg487=) rs772894742
NM_152618.3(BBS12):c.1461A>G (p.Arg487=)
NM_152618.3(BBS12):c.1467A>C (p.Ala489=)
NM_152618.3(BBS12):c.1476A>G (p.Leu492=)
NM_152618.3(BBS12):c.147A>G (p.Leu49=)
NM_152618.3(BBS12):c.1482A>C (p.Thr494=)
NM_152618.3(BBS12):c.1482A>G (p.Thr494=) rs1460811850
NM_152618.3(BBS12):c.1482A>T (p.Thr494=)
NM_152618.3(BBS12):c.1500T>C (p.Val500=)
NM_152618.3(BBS12):c.1503G>A (p.Thr501=)
NM_152618.3(BBS12):c.150C>T (p.Ile50=)
NM_152618.3(BBS12):c.1518C>T (p.Asn506=) rs2292494
NM_152618.3(BBS12):c.1524T>G (p.Val508=)
NM_152618.3(BBS12):c.1527T>C (p.Thr509=)
NM_152618.3(BBS12):c.1530A>T (p.Ala510=) rs1261261490
NM_152618.3(BBS12):c.1542C>A (p.Ile514=)
NM_152618.3(BBS12):c.1548A>G (p.Glu516=) rs2150737441
NM_152618.3(BBS12):c.1563A>G (p.Thr521=)
NM_152618.3(BBS12):c.1569C>G (p.Ala523=)
NM_152618.3(BBS12):c.1569C>T (p.Ala523=) rs1800926454
NM_152618.3(BBS12):c.1584T>C (p.Tyr528=) rs1200669244
NM_152618.3(BBS12):c.1587T>C (p.Ala529=) rs2150737498
NM_152618.3(BBS12):c.1588C>T (p.Leu530=) rs774541720
NM_152618.3(BBS12):c.1596G>A (p.Glu532=) rs1477880509
NM_152618.3(BBS12):c.1605C>A (p.Val535=)
NM_152618.3(BBS12):c.1605C>G (p.Val535=)
NM_152618.3(BBS12):c.1611T>C (p.Leu537=) rs536542331
NM_152618.3(BBS12):c.1614A>G (p.Gly538=)
NM_152618.3(BBS12):c.1617T>G (p.Gly539=) rs1332032760
NM_152618.3(BBS12):c.1620T>A (p.Gly540=) rs1335150440
NM_152618.3(BBS12):c.1635G>A (p.Leu545=) rs1800929032
NM_152618.3(BBS12):c.1638T>C (p.Cys546=) rs2150737570
NM_152618.3(BBS12):c.163A>C (p.Arg55=) rs765761292
NM_152618.3(BBS12):c.1653T>C (p.His551=) rs1800929267
NM_152618.3(BBS12):c.165G>A (p.Arg55=) rs1160982211
NM_152618.3(BBS12):c.1668A>G (p.Gln556=) rs2150737604
NM_152618.3(BBS12):c.1671T>G (p.Ser557=)
NM_152618.3(BBS12):c.1695C>T (p.Cys565=)
NM_152618.3(BBS12):c.1698A>C (p.Ser566=) rs746904755
NM_152618.3(BBS12):c.1698A>G (p.Ser566=) rs746904755
NM_152618.3(BBS12):c.1698A>T (p.Ser566=) rs746904755
NM_152618.3(BBS12):c.16A>C (p.Arg6=)
NM_152618.3(BBS12):c.1716T>C (p.Thr572=) rs1578491962
NM_152618.3(BBS12):c.1731T>C (p.Ala577=)
NM_152618.3(BBS12):c.1761G>C (p.Val587=) rs2150737711
NM_152618.3(BBS12):c.1764T>A (p.Leu588=)
NM_152618.3(BBS12):c.1764T>C (p.Leu588=) rs2150737718
NM_152618.3(BBS12):c.1773G>A (p.Leu591=)
NM_152618.3(BBS12):c.1779T>C (p.Asn593=)
NM_152618.3(BBS12):c.1812T>C (p.Tyr604=) rs1560708733
NM_152618.3(BBS12):c.1815C>T (p.Asn605=) rs779671886
NM_152618.3(BBS12):c.1830A>C (p.Ser610=) rs528535207
NM_152618.3(BBS12):c.1851A>G (p.Thr617=)
NM_152618.3(BBS12):c.1857T>C (p.Ile619=)
NM_152618.3(BBS12):c.1878C>A (p.Ala626=) rs1800935621
NM_152618.3(BBS12):c.1887T>C (p.Ser629=)
NM_152618.3(BBS12):c.1899A>T (p.Ser633=) rs892531107
NM_152618.3(BBS12):c.189C>T (p.Thr63=) rs2150735963
NM_152618.3(BBS12):c.1902T>C (p.Ser634=) rs2150737878
NM_152618.3(BBS12):c.1905C>T (p.Tyr635=)
NM_152618.3(BBS12):c.1917A>G (p.Glu639=) rs2150737890
NM_152618.3(BBS12):c.1935T>C (p.Ser645=)
NM_152618.3(BBS12):c.1950A>G (p.Ser650=)
NM_152618.3(BBS12):c.1965A>G (p.Lys655=) rs1223815928
NM_152618.3(BBS12):c.1966C>T (p.Leu656=)
NM_152618.3(BBS12):c.1980G>T (p.Pro660=) rs778953866
NM_152618.3(BBS12):c.1989T>C (p.Tyr663=) rs2150737974
NM_152618.3(BBS12):c.1992C>T (p.Asp664=) rs1553941594
NM_152618.3(BBS12):c.2004A>C (p.Pro668=)
NM_152618.3(BBS12):c.2004A>G (p.Pro668=) rs2150738003
NM_152618.3(BBS12):c.2007G>A (p.Lys669=)
NM_152618.3(BBS12):c.2010T>A (p.Ile670=)
NM_152618.3(BBS12):c.2013G>A (p.Glu671=) rs777175466
NM_152618.3(BBS12):c.201A>T (p.Gly67=)
NM_152618.3(BBS12):c.2022C>T (p.Arg674=) rs2150738042
NM_152618.3(BBS12):c.2028A>G (p.Ala676=)
NM_152618.3(BBS12):c.2029T>C (p.Leu677=) rs1578492416
NM_152618.3(BBS12):c.2037A>G (p.Leu679=) rs1553941612
NM_152618.3(BBS12):c.2044T>C (p.Leu682=)
NM_152618.3(BBS12):c.2046A>G (p.Leu682=) rs2150738093
NM_152618.3(BBS12):c.2049A>G (p.Val683=) rs2150738097
NM_152618.3(BBS12):c.204A>G (p.Gln68=) rs2150735975
NM_152618.3(BBS12):c.2061C>T (p.Asp687=)
NM_152618.3(BBS12):c.2079A>G (p.Gly693=) rs1166099987
NM_152618.3(BBS12):c.2082T>C (p.His694=)
NM_152618.3(BBS12):c.2097A>C (p.Ile699=)
NM_152618.3(BBS12):c.2115G>A (p.Thr705=)
NM_152618.3(BBS12):c.21C>A (p.Val7=) rs754702110
NM_152618.3(BBS12):c.222T>G (p.Val74=) rs778792181
NM_152618.3(BBS12):c.228A>G (p.Ala76=)
NM_152618.3(BBS12):c.231A>G (p.Gln77=) rs1232888793
NM_152618.3(BBS12):c.234C>T (p.Asn78=) rs2150736009
NM_152618.3(BBS12):c.240A>G (p.Thr80=)
NM_152618.3(BBS12):c.249T>C (p.Thr83=) rs2150736023
NM_152618.3(BBS12):c.270T>C (p.Phe90=)
NM_152618.3(BBS12):c.291T>C (p.Ser97=) rs2150736048
NM_152618.3(BBS12):c.294A>G (p.Ala98=)
NM_152618.3(BBS12):c.318T>C (p.Gly106=) rs1578489832
NM_152618.3(BBS12):c.351A>G (p.Ser117=)
NM_152618.3(BBS12):c.366T>C (p.Phe122=) rs907426686
NM_152618.3(BBS12):c.381A>G (p.Val127=)
NM_152618.3(BBS12):c.396A>C (p.Val132=)
NM_152618.3(BBS12):c.396A>G (p.Val132=)
NM_152618.3(BBS12):c.450T>G (p.Leu150=) rs2150736218
NM_152618.3(BBS12):c.489C>G (p.Val163=)
NM_152618.3(BBS12):c.501T>C (p.Thr167=) rs771669469
NM_152618.3(BBS12):c.507G>A (p.Leu169=)
NM_152618.3(BBS12):c.513G>A (p.Glu171=)
NM_152618.3(BBS12):c.516A>G (p.Glu172=)
NM_152618.3(BBS12):c.517T>C (p.Leu173=) rs2150736262
NM_152618.3(BBS12):c.522T>C (p.His174=)
NM_152618.3(BBS12):c.525T>C (p.Gly175=) rs2150736282
NM_152618.3(BBS12):c.54A>G (p.Gln18=)
NM_152618.3(BBS12):c.550C>T (p.Leu184=) rs1800894066
NM_152618.3(BBS12):c.552G>A (p.Leu184=)
NM_152618.3(BBS12):c.555C>T (p.Thr185=) rs1800894181
NM_152618.3(BBS12):c.576A>G (p.Arg192=)
NM_152618.3(BBS12):c.579T>C (p.Pro193=) rs1354832386
NM_152618.3(BBS12):c.57T>G (p.Leu19=) rs2150735813
NM_152618.3(BBS12):c.588A>T (p.Ser196=) rs1214671198
NM_152618.3(BBS12):c.642A>T (p.Arg214=) rs1297157123
NM_152618.3(BBS12):c.648G>A (p.Leu216=)
NM_152618.3(BBS12):c.660G>C (p.Leu220=) rs768514500
NM_152618.3(BBS12):c.663T>G (p.Leu221=) rs2150736396
NM_152618.3(BBS12):c.672C>A (p.Thr224=)
NM_152618.3(BBS12):c.681A>G (p.Arg227=) rs2150736417
NM_152618.3(BBS12):c.708T>C (p.His236=)
NM_152618.3(BBS12):c.714T>C (p.Asn238=)
NM_152618.3(BBS12):c.715A>C (p.Arg239=) rs1800898589
NM_152618.3(BBS12):c.720A>G (p.Thr240=)
NM_152618.3(BBS12):c.729T>C (p.Thr243=)
NM_152618.3(BBS12):c.72A>G (p.Glu24=) rs2150735852
NM_152618.3(BBS12):c.753A>G (p.Gly251=) rs2150736488
NM_152618.3(BBS12):c.756T>C (p.Phe252=)
NM_152618.3(BBS12):c.75A>C (p.Thr25=) rs754811440
NM_152618.3(BBS12):c.771A>T (p.Thr257=)
NM_152618.3(BBS12):c.774T>G (p.Ala258=)
NM_152618.3(BBS12):c.780C>T (p.His260=)
NM_152618.3(BBS12):c.798T>C (p.Asn266=)
NM_152618.3(BBS12):c.840C>T (p.His280=) rs2150736581
NM_152618.3(BBS12):c.852G>A (p.Lys284=)
NM_152618.3(BBS12):c.855A>G (p.Leu285=)
NM_152618.3(BBS12):c.874C>T (p.Leu292=)
NM_152618.3(BBS12):c.87C>T (p.Phe29=) rs2150735866
NM_152618.3(BBS12):c.891T>C (p.Ala297=) rs2150736617
NM_152618.3(BBS12):c.900A>G (p.Gln300=)
NM_152618.3(BBS12):c.906C>A (p.Gly302=) rs557013132
NM_152618.3(BBS12):c.906C>T (p.Gly302=) rs557013132
NM_152618.3(BBS12):c.948C>T (p.Phe316=)
NM_152618.3(BBS12):c.951T>C (p.Thr317=)
NM_152618.3(BBS12):c.960A>G (p.Leu320=)
NM_152618.3(BBS12):c.96A>G (p.Pro32=)
NM_152618.3(BBS12):c.975A>G (p.Glu325=) rs2150736709
NM_152618.3(BBS12):c.978T>G (p.Thr326=)
NM_152618.3(BBS12):c.97C>T (p.Leu33=) rs1011665825
NM_152618.3(BBS12):c.981T>G (p.Ser327=) rs2150736715
NM_152618.3(BBS12):c.990T>C (p.Val330=)
NM_152618.3(BBS12):c.999A>T (p.Gly333=)
NM_152618.3(BBS12):c.99A>G (p.Leu33=) rs770875217

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