ClinVar Miner

List of variants reported as uncertain significance for Bardet-Biedl syndrome by Natera, Inc.

Included ClinVar conditions (45):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 254
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HGVS dbSNP gnomAD frequency
NM_024685.4(BBS10):c.1736A>G (p.Lys579Arg) rs141521925 0.00159
NM_024649.5(BBS1):c.235G>A (p.Glu79Lys) rs138744839 0.00115
NM_024685.4(BBS10):c.765G>A (p.Met255Ile) rs139658279 0.00072
NM_024685.4(BBS10):c.1436C>A (p.Ala479Glu) rs138434761 0.00058
NM_152618.3(BBS12):c.1859A>G (p.Gln620Arg) rs139278612 0.00048
NM_024685.4(BBS10):c.886G>A (p.Ala296Thr) rs150587582 0.00041
NM_024685.4(BBS10):c.1276A>G (p.Lys426Glu) rs149596527 0.00040
NM_024685.4(BBS10):c.752C>T (p.Ala251Val) rs149760791 0.00034
NM_031885.5(BBS2):c.995G>A (p.Ser332Asn) rs199655331 0.00033
NM_024649.5(BBS1):c.734C>T (p.Pro245Leu) rs151203205 0.00031
NM_031885.5(BBS2):c.358G>A (p.Ala120Thr) rs148808295 0.00030
NM_024649.5(BBS1):c.1772C>T (p.Ala591Val) rs144492051 0.00028
NM_024649.5(BBS1):c.1194C>A (p.Ile398=) rs200577824 0.00023
NM_024649.5(BBS1):c.432+5A>G rs373923317 0.00021
NM_024649.5(BBS1):c.-3A>G rs549210746 0.00019
NM_024649.5(BBS1):c.887T>C (p.Ile296Thr) rs145094101 0.00019
NM_031885.5(BBS2):c.1927C>T (p.Arg643Cys) rs147397090 0.00019
NM_031885.5(BBS2):c.725A>G (p.Asn242Ser) rs199898889 0.00019
NM_024685.4(BBS10):c.2003A>G (p.Asn668Ser) rs142140276 0.00018
NM_024649.5(BBS1):c.1109C>T (p.Pro370Leu) rs141255069 0.00016
NM_152618.3(BBS12):c.2114C>T (p.Thr705Met) rs372102223 0.00016
NM_024649.5(BBS1):c.200G>A (p.Arg67His) rs145718265 0.00014
NM_152618.3(BBS12):c.787T>C (p.Tyr263His) rs150040166 0.00014
NM_024649.5(BBS1):c.1313C>G (p.Thr438Arg) rs199711874 0.00012
NM_152618.3(BBS12):c.1237C>G (p.Leu413Val) rs758217005 0.00012
NM_024685.4(BBS10):c.1595G>A (p.Arg532Lys) rs142297424 0.00011
NM_031885.5(BBS2):c.1516C>T (p.Arg506Trp) rs560253338 0.00011
NM_152618.3(BBS12):c.344T>C (p.Val115Ala) rs144179606 0.00011
NM_031885.5(BBS2):c.642C>T (p.Gly214=) rs141563594 0.00010
NM_152618.3(BBS12):c.1261C>A (p.Arg421Ser) rs199596849 0.00010
NM_024649.5(BBS1):c.1021C>T (p.Arg341Trp) rs767395683 0.00009
NM_024649.5(BBS1):c.1634A>G (p.Asn545Ser) rs148948642 0.00009
NM_024649.5(BBS1):c.6C>T (p.Ala2=) rs143592479 0.00009
NM_152618.3(BBS12):c.1262G>A (p.Arg421His) rs778351153 0.00009
NM_152618.3(BBS12):c.1460G>A (p.Arg487Lys) rs376531209 0.00009
NM_152618.3(BBS12):c.67G>A (p.Ala23Thr) rs371153231 0.00009
NM_024649.5(BBS1):c.407A>G (p.Gln136Arg) rs144833282 0.00008
NM_031885.5(BBS2):c.1381G>A (p.Val461Met) rs377000980 0.00008
NM_031885.5(BBS2):c.470C>T (p.Thr157Met) rs376483931 0.00008
NM_024649.5(BBS1):c.1243G>A (p.Val415Met) rs150444177 0.00007
NM_031885.5(BBS2):c.1953T>C (p.Asn651=) rs200621431 0.00007
NM_024649.5(BBS1):c.1277A>G (p.Asn426Ser) rs755782127 0.00006
NM_024649.5(BBS1):c.1534C>A (p.Arg512Ser) rs369653969 0.00006
NM_024649.5(BBS1):c.1535G>A (p.Arg512His) rs202205304 0.00006
NM_024649.5(BBS1):c.1594C>T (p.Arg532Trp) rs770105141 0.00006
NM_024649.5(BBS1):c.478C>T (p.Arg160Trp) rs199633103 0.00006
NM_024649.5(BBS1):c.569A>T (p.Lys190Met) rs778672601 0.00006
NM_024649.5(BBS1):c.744C>T (p.Pro248=) rs528073027 0.00006
NM_031885.5(BBS2):c.1527+5G>C rs769041685 0.00006
NM_031885.5(BBS2):c.1543G>A (p.Gly515Ser) rs181107019 0.00006
NM_152618.3(BBS12):c.1135A>G (p.Lys379Glu) rs369878286 0.00006
NM_152618.3(BBS12):c.1507G>T (p.Val503Leu) rs374865012 0.00006
NM_152618.3(BBS12):c.200G>A (p.Gly67Glu) rs767546051 0.00006
NM_024649.5(BBS1):c.751C>G (p.Leu251Val) rs951217740 0.00005
NM_024649.5(BBS1):c.901G>A (p.Val301Ile) rs1037134217 0.00005
NM_024685.4(BBS10):c.1490A>T (p.Asp497Val) rs753629989 0.00005
NM_031885.5(BBS2):c.1909A>T (p.Met637Leu) rs967941621 0.00005
NM_152618.3(BBS12):c.140G>A (p.Ser47Asn) rs149473445 0.00005
NM_152618.3(BBS12):c.152G>C (p.Ser51Thr) rs762558855 0.00005
NM_024649.5(BBS1):c.1592C>T (p.Pro531Leu) rs746206916 0.00004
NM_024649.5(BBS1):c.163G>A (p.Val55Met) rs181765153 0.00004
NM_024649.5(BBS1):c.1744G>A (p.Val582Ile) rs111358560 0.00004
NM_024649.5(BBS1):c.175C>G (p.Leu59Val) rs113822005 0.00004
NM_024649.5(BBS1):c.274T>C (p.Phe92Leu) rs778339359 0.00004
NM_024649.5(BBS1):c.437G>A (p.Arg146Gln) rs759253107 0.00004
NM_024685.4(BBS10):c.1463A>G (p.Lys488Arg) rs1021050605 0.00004
NM_024685.4(BBS10):c.1548A>T (p.Thr516=) rs771662934 0.00004
NM_024685.4(BBS10):c.1837T>C (p.Tyr613His) rs141647931 0.00004
NM_024685.4(BBS10):c.1969A>G (p.Thr657Ala) rs766733372 0.00004
NM_031885.5(BBS2):c.1666A>G (p.Ile556Val) rs376380339 0.00004
NM_031885.5(BBS2):c.1885G>A (p.Glu629Lys) rs746505864 0.00004
NM_031885.5(BBS2):c.2056C>T (p.Arg686Trp) rs372135700 0.00004
NM_031885.5(BBS2):c.422A>G (p.Asn141Ser) rs144680278 0.00004
NM_031885.5(BBS2):c.962C>T (p.Thr321Met) rs758548498 0.00004
NM_152618.3(BBS12):c.1348G>A (p.Gly450Arg) rs1487383886 0.00004
NM_152618.3(BBS12):c.1411G>A (p.Val471Met) rs140675688 0.00004
NM_152618.3(BBS12):c.1712A>G (p.Asn571Ser) rs371908294 0.00004
NM_152618.3(BBS12):c.1A>C (p.Met1Leu) rs750366365 0.00004
NM_152618.3(BBS12):c.2094G>C (p.Gln698His) rs373082306 0.00004
NM_152618.3(BBS12):c.476C>T (p.Pro159Leu) rs1450190654 0.00004
NM_152618.3(BBS12):c.68C>T (p.Ala23Val) rs200240034 0.00004
NM_024649.5(BBS1):c.1067G>A (p.Arg356His) rs771291825 0.00003
NM_024649.5(BBS1):c.190C>G (p.Gln64Glu) rs369843749 0.00003
NM_024649.5(BBS1):c.332G>A (p.Cys111Tyr) rs765960634 0.00003
NM_024649.5(BBS1):c.726G>A (p.Met242Ile) rs773588060 0.00003
NM_024685.4(BBS10):c.1154G>A (p.Gly385Asp) rs774809155 0.00003
NM_024685.4(BBS10):c.1325C>T (p.Thr442Ile) rs780966013 0.00003
NM_024685.4(BBS10):c.198-3C>T rs779659204 0.00003
NM_024685.4(BBS10):c.908G>C (p.Ser303Thr) rs1160564103 0.00003
NM_031885.5(BBS2):c.1120C>T (p.Arg374Trp) rs143607562 0.00003
NM_031885.5(BBS2):c.1223A>G (p.Asn408Ser) rs761864599 0.00003
NM_031885.5(BBS2):c.1615C>T (p.Arg539Trp) rs1175381219 0.00003
NM_031885.5(BBS2):c.1890T>C (p.Asp630=) rs1176715641 0.00003
NM_031885.5(BBS2):c.1982G>A (p.Arg661His) rs747686535 0.00003
NM_031885.5(BBS2):c.635T>C (p.Met212Thr) rs764600063 0.00003
NM_031885.5(BBS2):c.851A>G (p.Asn284Ser) rs377749641 0.00003
NM_152618.3(BBS12):c.1303G>A (p.Gly435Ser) rs762853916 0.00003
NM_152618.3(BBS12):c.1597G>A (p.Glu533Lys) rs543608786 0.00003
NM_152618.3(BBS12):c.1931A>G (p.Asn644Ser) rs777615072 0.00003
NM_024649.5(BBS1):c.1139G>A (p.Arg380Gln) rs758139447 0.00002
NM_024649.5(BBS1):c.1585T>G (p.Ser529Ala) rs1316472200 0.00002
NM_024649.5(BBS1):c.1684G>T (p.Asp562Tyr) rs768098877 0.00002
NM_024649.5(BBS1):c.169G>C (p.Gly57Arg) rs1355873337 0.00002
NM_024649.5(BBS1):c.329C>A (p.Pro110His) rs750288768 0.00002
NM_024649.5(BBS1):c.357A>T (p.Arg119Ser) rs190513580 0.00002
NM_024649.5(BBS1):c.518+5G>A rs1428618323 0.00002
NM_024649.5(BBS1):c.670G>A (p.Glu224Lys) rs193922709 0.00002
NM_024649.5(BBS1):c.725T>C (p.Met242Thr) rs771506842 0.00002
NM_024649.5(BBS1):c.877G>A (p.Val293Met) rs769422545 0.00002
NM_024685.4(BBS10):c.1700T>C (p.Ile567Thr) rs373626588 0.00002
NM_024685.4(BBS10):c.1742C>T (p.Pro581Leu) rs762432475 0.00002
NM_031885.5(BBS2):c.112G>A (p.Gly38Ser) rs768699088 0.00002
NM_031885.5(BBS2):c.1333A>G (p.Ile445Val) rs145757541 0.00002
NM_031885.5(BBS2):c.1879G>A (p.Gly627Arg) rs149473225 0.00002
NM_031885.5(BBS2):c.1894C>T (p.Arg632Cys) rs200021475 0.00002
NM_031885.5(BBS2):c.1934T>C (p.Met645Thr) rs757737589 0.00002
NM_031885.5(BBS2):c.685T>C (p.Tyr229His) rs778543585 0.00002
NM_031885.5(BBS2):c.988G>A (p.Asp330Asn) rs144573829 0.00002
NM_152618.3(BBS12):c.1292G>A (p.Arg431Gln) rs776216693 0.00002
NM_152618.3(BBS12):c.2021G>A (p.Arg674His) rs766952842 0.00002
NM_024649.5(BBS1):c.1054A>G (p.Asn352Asp) rs747656068 0.00001
NM_024649.5(BBS1):c.1147C>T (p.Arg383Trp) rs143495423 0.00001
NM_024649.5(BBS1):c.1178G>A (p.Arg393Gln) rs772235333 0.00001
NM_024649.5(BBS1):c.1181-6C>T rs368445790 0.00001
NM_024649.5(BBS1):c.1310A>T (p.Gln437Leu) rs374356964 0.00001
NM_024649.5(BBS1):c.1320A>G (p.Arg440=) rs1430151544 0.00001
NM_024649.5(BBS1):c.1395C>T (p.Arg465=) rs756550025 0.00001
NM_024649.5(BBS1):c.1528A>G (p.Thr510Ala) rs1856753561 0.00001
NM_024649.5(BBS1):c.157A>G (p.Lys53Glu) rs766602837 0.00001
NM_024649.5(BBS1):c.1762G>A (p.Glu588Lys) rs761304709 0.00001
NM_024649.5(BBS1):c.242C>T (p.Pro81Leu) rs1479663514 0.00001
NM_024649.5(BBS1):c.280A>G (p.Met94Val) rs1376711744 0.00001
NM_024649.5(BBS1):c.441C>T (p.Ile147=) rs544997496 0.00001
NM_024649.5(BBS1):c.509A>G (p.Gln170Arg) rs774163850 0.00001
NM_024649.5(BBS1):c.575A>G (p.Asn192Ser) rs1207942097 0.00001
NM_024649.5(BBS1):c.587G>A (p.Arg196Gln) rs142769864 0.00001
NM_024649.5(BBS1):c.595G>A (p.Val199Ile) rs1300549627 0.00001
NM_024649.5(BBS1):c.646G>A (p.Val216Met) rs764165386 0.00001
NM_024649.5(BBS1):c.708C>G (p.Phe236Leu) rs1482951221 0.00001
NM_024649.5(BBS1):c.739G>A (p.Val247Ile) rs763004810 0.00001
NM_024649.5(BBS1):c.742C>A (p.Pro248Thr) rs544315396 0.00001
NM_024649.5(BBS1):c.772G>C (p.Asp258His) rs779297419 0.00001
NM_024649.5(BBS1):c.830+3A>G rs747229201 0.00001
NM_024685.4(BBS10):c.1144G>T (p.Val382Phe) rs775492103 0.00001
NM_024685.4(BBS10):c.1211A>G (p.His404Arg) rs964776134 0.00001
NM_024685.4(BBS10):c.1234G>C (p.Asp412His) rs1413288461 0.00001
NM_024685.4(BBS10):c.1360A>G (p.Ser454Gly) rs933207351 0.00001
NM_024685.4(BBS10):c.1678G>A (p.Glu560Lys) rs758489303 0.00001
NM_024685.4(BBS10):c.2004T>G (p.Asn668Lys) rs778614911 0.00001
NM_024685.4(BBS10):c.2048G>A (p.Gly683Asp) rs756069503 0.00001
NM_024685.4(BBS10):c.2169A>G (p.Leu723=) rs1395342080 0.00001
NM_024685.4(BBS10):c.226C>T (p.Leu76Phe) rs767638924 0.00001
NM_024685.4(BBS10):c.337A>G (p.Ile113Val) rs969686018 0.00001
NM_024685.4(BBS10):c.434T>C (p.Met145Thr) rs144312522 0.00001
NM_024685.4(BBS10):c.483A>G (p.Lys161=) rs748732850 0.00001
NM_024685.4(BBS10):c.583T>G (p.Cys195Gly) rs775747309 0.00001
NM_024685.4(BBS10):c.607A>G (p.Thr203Ala) rs753138845 0.00001
NM_024685.4(BBS10):c.783A>G (p.Thr261=) rs768475584 0.00001
NM_031885.5(BBS2):c.1139A>G (p.Asn380Ser) rs773720173 0.00001
NM_031885.5(BBS2):c.117+5C>T rs1460934723 0.00001
NM_031885.5(BBS2):c.1240G>A (p.Ala414Thr) rs375585469 0.00001
NM_031885.5(BBS2):c.1437T>C (p.Pro479=) rs747415803 0.00001
NM_031885.5(BBS2):c.159T>G (p.Ser53Arg) rs1250423040 0.00001
NM_031885.5(BBS2):c.1673C>T (p.Thr558Ile) rs370581600 0.00001
NM_031885.5(BBS2):c.1759C>T (p.Pro587Ser) rs1288834218 0.00001
NM_031885.5(BBS2):c.1808A>G (p.Tyr603Cys) rs752749569 0.00001
NM_031885.5(BBS2):c.184C>G (p.Leu62Val) rs201860939 0.00001
NM_031885.5(BBS2):c.1999G>C (p.Glu667Gln) rs1476749003 0.00001
NM_031885.5(BBS2):c.327G>A (p.Ser109=) rs770497817 0.00001
NM_031885.5(BBS2):c.718-3C>T rs779134746 0.00001
NM_031885.5(BBS2):c.783A>C (p.Ile261=) rs183982328 0.00001
NM_152618.3(BBS12):c.1139C>T (p.Thr380Ile) rs752254471 0.00001
NM_152618.3(BBS12):c.1156C>T (p.Arg386Trp) rs202225266 0.00001
NM_152618.3(BBS12):c.1205A>G (p.Gln402Arg) rs763765486 0.00001
NM_152618.3(BBS12):c.1390T>C (p.Cys464Arg) rs373652329 0.00001
NM_152618.3(BBS12):c.1394T>C (p.Val465Ala) rs1357690062 0.00001
NM_152618.3(BBS12):c.1402G>A (p.Gly468Arg) rs144910481 0.00001
NM_152618.3(BBS12):c.1907T>C (p.Ile636Thr) rs748009027 0.00001
NM_152618.3(BBS12):c.191G>A (p.Ser64Asn) rs1361081580 0.00001
NM_152618.3(BBS12):c.191G>C (p.Ser64Thr) rs1361081580 0.00001
NM_152618.3(BBS12):c.65T>C (p.Phe22Ser) rs565073445 0.00001
NM_152618.3(BBS12):c.716G>A (p.Arg239Lys) rs1179124061 0.00001
NM_152618.3(BBS12):c.79A>G (p.Arg27Gly) rs752533681 0.00001
NM_152618.3(BBS12):c.801T>A (p.Asp267Glu) rs1183146847 0.00001
NM_024649.5(BBS1):c.*13_*21dup rs750165500
NM_024649.5(BBS1):c.1006C>G (p.Leu336Val) rs765494351
NM_024649.5(BBS1):c.1088T>C (p.Leu363Pro) rs540217506
NM_024649.5(BBS1):c.1138C>T (p.Arg380Trp) rs752299442
NM_024649.5(BBS1):c.1177C>G (p.Arg393Gly) rs1160669210
NM_024649.5(BBS1):c.1181-3T>G rs1856511506
NM_024649.5(BBS1):c.1264G>A (p.Ala422Thr) rs1346584719
NM_024649.5(BBS1):c.1378C>T (p.Arg460Cys) rs745460551
NM_024649.5(BBS1):c.1439C>A (p.Thr480Lys) rs374706769
NM_024649.5(BBS1):c.1489C>A (p.Pro497Thr) rs1194392195
NM_024649.5(BBS1):c.1595G>T (p.Arg532Leu) rs142648652
NM_024649.5(BBS1):c.1628G>A (p.Gly543Glu) rs778941006
NM_024649.5(BBS1):c.1709G>A (p.Arg570Gln) rs1856803176
NM_024649.5(BBS1):c.198C>T (p.Pro66=) rs1856007679
NM_024649.5(BBS1):c.316C>G (p.Leu106Val) rs137853913
NM_024649.5(BBS1):c.57C>G (p.Ala19=) rs755026677
NM_024649.5(BBS1):c.592-7_592-5del rs774944051
NM_024649.5(BBS1):c.634G>A (p.Asp212Asn) rs2134780459
NM_024649.5(BBS1):c.77C>T (p.Ala26Val) rs866558676
NM_024649.5(BBS1):c.910G>T (p.Val304Leu) rs1228755309
NM_024685.4(BBS10):c.1010AAG[1] (p.Glu338del) rs750611000
NM_024685.4(BBS10):c.106G>T (p.Val36Phe) rs896544129
NM_024685.4(BBS10):c.1126C>G (p.Leu376Val) rs11109474
NM_024685.4(BBS10):c.1144G>C (p.Val382Leu) rs775492103
NM_024685.4(BBS10):c.1181C>A (p.Pro394Gln) rs1951762690
NM_024685.4(BBS10):c.1185C>G (p.His395Gln) rs863224793
NM_024685.4(BBS10):c.1228C>T (p.His410Tyr) rs1951762170
NM_024685.4(BBS10):c.1400G>A (p.Arg467Lys) rs1022090476
NM_024685.4(BBS10):c.1418T>A (p.Val473Asp) rs763473990
NM_024685.4(BBS10):c.1457A>T (p.Tyr486Phe) rs1429011304
NM_024685.4(BBS10):c.1530A>G (p.Thr510=) rs1951758841
NM_024685.4(BBS10):c.1640C>A (p.Ala547Asp) rs770880993
NM_024685.4(BBS10):c.1684T>C (p.Leu562=) rs111773727
NM_024685.4(BBS10):c.1856A>G (p.Lys619Arg) rs1951755649
NM_024685.4(BBS10):c.1865A>G (p.His622Arg) rs1453149575
NM_024685.4(BBS10):c.209A>G (p.Asp70Gly) rs529208223
NM_024685.4(BBS10):c.2157A>G (p.Ser719=) rs1951752945
NM_024685.4(BBS10):c.397C>T (p.Leu133Phe) rs750446869
NM_024685.4(BBS10):c.55G>C (p.Glu19Gln) rs1001512051
NM_024685.4(BBS10):c.815G>C (p.Gly272Ala) rs781723681
NM_031885.5(BBS2):c.142C>T (p.Arg48Trp) rs1030249829
NM_031885.5(BBS2):c.1454C>T (p.Ala485Val) rs376115616
NM_031885.5(BBS2):c.1517G>A (p.Arg506Gln) rs1278932190
NM_031885.5(BBS2):c.1624G>T (p.Gly542Cys) rs556899786
NM_031885.5(BBS2):c.1816G>T (p.Val606Leu) rs930659537
NM_031885.5(BBS2):c.2084T>C (p.Ile695Thr) rs1426683547
NM_031885.5(BBS2):c.235A>C (p.Thr79Pro) rs1387025330
NM_031885.5(BBS2):c.35A>G (p.His12Arg) rs1238233777
NM_031885.5(BBS2):c.482A>G (p.Asp161Gly) rs755150651
NM_031885.5(BBS2):c.55G>A (p.Val19Met) rs1158566793
NM_031885.5(BBS2):c.68G>T (p.Arg23Leu) rs1162842645
NM_031885.5(BBS2):c.766G>A (p.Gly256Arg) rs886052147
NM_031885.5(BBS2):c.913T>G (p.Leu305Val) rs1964310691
NM_031885.5(BBS2):c.950A>G (p.Tyr317Cys) rs1597016660
NM_031885.5(BBS2):c.962C>A (p.Thr321Lys) rs758548498
NM_031885.5(BBS2):c.983T>A (p.Leu328His) rs753806664
NM_152618.3(BBS12):c.1401C>T (p.Asp467=) rs1578491425
NM_152618.3(BBS12):c.1459A>G (p.Arg487Gly) rs772894742
NM_152618.3(BBS12):c.1465G>A (p.Ala489Thr) rs145489987
NM_152618.3(BBS12):c.1577T>C (p.Leu526Ser) rs1560708457
NM_152618.3(BBS12):c.1635G>A (p.Leu545=) rs1800929032
NM_152618.3(BBS12):c.19G>A (p.Val7Ile) rs1464814059
NM_152618.3(BBS12):c.274G>A (p.Val92Ile) rs973844350
NM_152618.3(BBS12):c.31AGA[1] (p.Arg12del) rs752885483
NM_152618.3(BBS12):c.668A>G (p.Asp223Gly) rs1060501473
NM_152618.3(BBS12):c.745C>G (p.Pro249Ala) rs758191621
NM_152618.3(BBS12):c.810G>C (p.Glu270Asp) rs774510452
NM_152618.3(BBS12):c.860AAG[1] (p.Glu288del) rs745504524
NM_152618.3(BBS12):c.906C>A (p.Gly302=) rs557013132
NM_152618.3(BBS12):c.977CTT[2] (p.Ser328del) rs779801356

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