ClinVar Miner

List of variants in gene combination BBS1, ZDHHC24 reported as uncertain significance for autosomal recessive disease

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 211
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HGVS dbSNP gnomAD frequency
NM_024649.5(BBS1):c.831-5C>T rs56177555 0.00285
NM_024649.5(BBS1):c.1181G>A (p.Gly394Asp) rs141528309 0.00096
NM_024649.5(BBS1):c.*1349T>C rs752758324 0.00035
NM_024649.5(BBS1):c.734C>T (p.Pro245Leu) rs151203205 0.00031
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.*522C>T rs886048528 0.00020
NM_024649.5(BBS1):c.887T>C (p.Ile296Thr) rs145094101 0.00019
NM_024649.5(BBS1):c.1109C>T (p.Pro370Leu) rs141255069 0.00016
NM_024649.5(BBS1):c.*104G>C rs554182779 0.00014
NM_024649.5(BBS1):c.1474-8C>T rs398124402 0.00013
NM_024649.5(BBS1):c.1313C>G (p.Thr438Arg) rs199711874 0.00012
NM_024649.5(BBS1):c.1777G>A (p.Ala593Thr) rs760237505 0.00011
NM_024649.5(BBS1):c.981C>T (p.Pro327=) rs142243482 0.00011
NM_024649.5(BBS1):c.756G>C (p.Glu252Asp) rs149920346 0.00010
NM_024649.5(BBS1):c.1021C>T (p.Arg341Trp) rs767395683 0.00009
NM_024649.5(BBS1):c.1110+15C>T rs371084544 0.00009
NM_024649.5(BBS1):c.1634A>G (p.Asn545Ser) rs148948642 0.00009
NM_024649.5(BBS1):c.1243G>A (p.Val415Met) rs150444177 0.00007
NM_024649.5(BBS1):c.*473C>T rs886048526 0.00006
NM_024649.5(BBS1):c.1277A>G (p.Asn426Ser) rs755782127 0.00006
NM_024649.5(BBS1):c.1394G>A (p.Arg465His) rs146072788 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.1595G>A (p.Arg532Gln) rs142648652 0.00006
NM_024649.5(BBS1):c.744C>T (p.Pro248=) rs528073027 0.00006
NM_024649.5(BBS1):c.802C>T (p.Arg268Cys) rs760381850 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_024649.5(BBS1):c.1246G>T (p.Gly416Cys) rs202201758 0.00004
NM_024649.5(BBS1):c.1592C>T (p.Pro531Leu) rs746206916 0.00004
NM_024649.5(BBS1):c.1744G>A (p.Val582Ile) rs111358560 0.00004
NM_024649.5(BBS1):c.745G>A (p.Val249Ile) rs139145556 0.00004
NM_024649.5(BBS1):c.830+12C>T rs781283997 0.00004
NM_024649.5(BBS1):c.908T>C (p.Val303Ala) rs750668484 0.00004
NM_024649.5(BBS1):c.*1217C>A rs1057306658 0.00003
NM_024649.5(BBS1):c.1067G>A (p.Arg356His) rs771291825 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.726G>A (p.Met242Ile) rs773588060 0.00003
NM_024649.5(BBS1):c.*259C>A rs1040142241 0.00002
NM_024649.5(BBS1):c.*950C>T rs1344507018 0.00002
NM_024649.5(BBS1):c.1110+329C>T rs571170303 0.00002
NM_024649.5(BBS1):c.1110G>A (p.Pro370=) rs183771956 0.00002
NM_024649.5(BBS1):c.1139G>A (p.Arg380Gln) rs758139447 0.00002
NM_024649.5(BBS1):c.1175C>A (p.Thr392Asn) rs775513593 0.00002
NM_024649.5(BBS1):c.1295G>A (p.Arg432Gln) rs138491266 0.00002
NM_024649.5(BBS1):c.1346A>T (p.His449Leu) rs777746992 0.00002
NM_024649.5(BBS1):c.1474G>T (p.Val492Phe) rs747604822 0.00002
NM_024649.5(BBS1):c.1585T>G (p.Ser529Ala) rs1316472200 0.00002
NM_024649.5(BBS1):c.1660A>T (p.Ser554Cys) rs184614863 0.00002
NM_024649.5(BBS1):c.1684G>T (p.Asp562Tyr) rs768098877 0.00002
NM_024649.5(BBS1):c.725T>C (p.Met242Thr) rs771506842 0.00002
NM_024649.5(BBS1):c.808G>A (p.Gly270Arg) rs754465006 0.00002
NM_024649.5(BBS1):c.877G>A (p.Val293Met) rs769422545 0.00002
NM_024649.5(BBS1):c.*1088G>A rs886048531 0.00001
NM_024649.5(BBS1):c.*10T>A rs765633556 0.00001
NM_024649.5(BBS1):c.*1274A>G rs192684991 0.00001
NM_024649.5(BBS1):c.1054A>G (p.Asn352Asp) rs747656068 0.00001
NM_024649.5(BBS1):c.1066C>T (p.Arg356Cys) rs747459381 0.00001
NM_024649.5(BBS1):c.1121C>G (p.Thr374Ser) rs759275651 0.00001
NM_024649.5(BBS1):c.1144G>A (p.Gly382Arg) rs377297999 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.1253C>T (p.Pro418Leu) rs1410252393 0.00001
NM_024649.5(BBS1):c.1294C>T (p.Arg432Trp) rs767247916 0.00001
NM_024649.5(BBS1):c.1303G>A (p.Val435Met) rs1181760871 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.1334G>C (p.Gly445Ala) rs765829383 0.00001
NM_024649.5(BBS1):c.1383A>G (p.Leu461=) rs557739576 0.00001
NM_024649.5(BBS1):c.1395C>T (p.Arg465=) rs756550025 0.00001
NM_024649.5(BBS1):c.1396G>A (p.Ala466Thr) rs1271245314 0.00001
NM_024649.5(BBS1):c.1442C>T (p.Thr481Ile) rs757132669 0.00001
NM_024649.5(BBS1):c.1448G>A (p.Arg483Gln) rs779828966 0.00001
NM_024649.5(BBS1):c.1471G>A (p.Val491Met) rs377469172 0.00001
NM_024649.5(BBS1):c.1487G>A (p.Gly496Asp) rs1306126953 0.00001
NM_024649.5(BBS1):c.1528A>G (p.Thr510Ala) rs1856753561 0.00001
NM_024649.5(BBS1):c.1553T>C (p.Leu518Pro) rs121917778 0.00001
NM_024649.5(BBS1):c.1640C>A (p.Pro547His) rs774636593 0.00001
NM_024649.5(BBS1):c.1676G>A (p.Gly559Asp) rs544767888 0.00001
NM_024649.5(BBS1):c.1687A>G (p.Ile563Val) rs374048871 0.00001
NM_024649.5(BBS1):c.1714G>A (p.Gly572Ser) rs758544060 0.00001
NM_024649.5(BBS1):c.1762G>A (p.Glu588Lys) rs761304709 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.803G>A (p.Arg268His) rs375949076 0.00001
NM_024649.5(BBS1):c.818A>G (p.Tyr273Cys) rs765732035 0.00001
NM_024649.5(BBS1):c.830+3A>G rs747229201 0.00001
NM_024649.5(BBS1):c.867C>T (p.Ser289=) rs776322401 0.00001
NM_024649.5(BBS1):c.*13_*21dup rs750165500
NM_024649.5(BBS1):c.*474G>A rs146244814
NM_024649.5(BBS1):c.*514C>T rs886048527
NM_024649.5(BBS1):c.*51C>G rs757289650
NM_024649.5(BBS1):c.*562_*563dup rs886048529
NM_024649.5(BBS1):c.*776G>A rs1856839016
NM_024649.5(BBS1):c.*855G>A rs886048530
NM_024649.5(BBS1):c.*886C>T rs754365737
NM_024649.5(BBS1):c.1006C>G (p.Leu336Val) rs765494351
NM_024649.5(BBS1):c.1016A>T (p.His339Leu) rs1389335279
NM_024649.5(BBS1):c.1020_1021delinsGT (p.Arg341Trp)
NM_024649.5(BBS1):c.1033G>T (p.Ala345Ser)
NM_024649.5(BBS1):c.1061A>G (p.Glu354Gly) rs1555048530
NM_024649.5(BBS1):c.1071T>C (p.Ile357=) rs1856362378
NM_024649.5(BBS1):c.1075C>T (p.Arg359Cys)
NM_024649.5(BBS1):c.1076G>A (p.Arg359His)
NM_024649.5(BBS1):c.1076G>T (p.Arg359Leu) rs147766972
NM_024649.5(BBS1):c.1088T>C (p.Leu363Pro) rs540217506
NM_024649.5(BBS1):c.1106C>T (p.Thr369Ile)
NM_024649.5(BBS1):c.1108C>T (p.Pro370Ser) rs2134797927
NM_024649.5(BBS1):c.1112A>G (p.Asp371Gly)
NM_024649.5(BBS1):c.1125C>G (p.Ser375Arg) rs1565287512
NM_024649.5(BBS1):c.1138C>T (p.Arg380Trp) rs752299442
NM_024649.5(BBS1):c.1139G>T (p.Arg380Leu)
NM_024649.5(BBS1):c.1141T>C (p.Tyr381His)
NM_024649.5(BBS1):c.1155C>G (p.Asp385Glu) rs1856480450
NM_024649.5(BBS1):c.1162C>G (p.Leu388Val)
NM_024649.5(BBS1):c.1164CAT[1] (p.Ile389del) rs1401696592
NM_024649.5(BBS1):c.1168A>G (p.Met390Val)
NM_024649.5(BBS1):c.1177C>G (p.Arg393Gly) rs1160669210
NM_024649.5(BBS1):c.1180+5G>A rs886048525
NM_024649.5(BBS1):c.1181-3T>G rs1856511506
NM_024649.5(BBS1):c.1181-9C>G rs769820955
NM_024649.5(BBS1):c.1184G>T (p.Gly395Val) rs2134812092
NM_024649.5(BBS1):c.1193T>C (p.Ile398Thr)
NM_024649.5(BBS1):c.1205T>C (p.Leu402Pro) rs767150997
NM_024649.5(BBS1):c.1210C>A (p.Arg404Ser) rs2134812288
NM_024649.5(BBS1):c.1211G>A (p.Arg404His)
NM_024649.5(BBS1):c.1225G>T (p.Val409Leu)
NM_024649.5(BBS1):c.1244T>G (p.Val415Gly)
NM_024649.5(BBS1):c.1264G>A (p.Ala422Thr) rs1346584719
NM_024649.5(BBS1):c.1267A>G (p.Met423Val)
NM_024649.5(BBS1):c.1286G>A (p.Arg429Gln)
NM_024649.5(BBS1):c.1339+13C>G
NM_024649.5(BBS1):c.1339+163G>A
NM_024649.5(BBS1):c.1339+5G>A rs2134813058
NM_024649.5(BBS1):c.1348C>T (p.Arg450Trp)
NM_024649.5(BBS1):c.1378C>T (p.Arg460Cys) rs745460551
NM_024649.5(BBS1):c.1379G>A (p.Arg460His)
NM_024649.5(BBS1):c.1384C>T (p.Arg462Cys)
NM_024649.5(BBS1):c.1385G>A (p.Arg462His)
NM_024649.5(BBS1):c.1385G>T (p.Arg462Leu)
NM_024649.5(BBS1):c.1439C>A (p.Thr480Lys) rs374706769
NM_024649.5(BBS1):c.1468G>A (p.Ala490Thr)
NM_024649.5(BBS1):c.1473+3G>A
NM_024649.5(BBS1):c.1473G>A (p.Val491=) rs1856699471
NM_024649.5(BBS1):c.1489C>A (p.Pro497Thr) rs1194392195
NM_024649.5(BBS1):c.1497T>C (p.Phe499=)
NM_024649.5(BBS1):c.1508_1509delinsAC (p.Leu503His) rs886044274
NM_024649.5(BBS1):c.1532C>T (p.Thr511Ile)
NM_024649.5(BBS1):c.1534C>T (p.Arg512Cys)
NM_024649.5(BBS1):c.1535G>T (p.Arg512Leu)
NM_024649.5(BBS1):c.1544T>A (p.Leu515Gln)
NM_024649.5(BBS1):c.1565T>C (p.Leu522Pro) rs752247232
NM_024649.5(BBS1):c.1570_1572del (p.Asn524del) rs863224782
NM_024649.5(BBS1):c.1577C>T (p.Ala526Val)
NM_024649.5(BBS1):c.1591C>A (p.Pro531Thr)
NM_024649.5(BBS1):c.1595G>T (p.Arg532Leu) rs142648652
NM_024649.5(BBS1):c.1600_1601delinsGC (p.Phe534Ala) rs2134837535
NM_024649.5(BBS1):c.1609-7A>G
NM_024649.5(BBS1):c.1628G>A (p.Gly543Glu) rs778941006
NM_024649.5(BBS1):c.1631T>A (p.Leu544His) rs1555050401
NM_024649.5(BBS1):c.1643T>C (p.Leu548Pro) rs2134840970
NM_024649.5(BBS1):c.1660A>C (p.Ser554Arg)
NM_024649.5(BBS1):c.1673A>G (p.Lys558Arg) rs2134841179
NM_024649.5(BBS1):c.1676_1678del (p.Gly559_Ile560delinsVal) rs1555050422
NM_024649.5(BBS1):c.1693A>G (p.Lys565Glu) rs1856791342
NM_024649.5(BBS1):c.1694A>C (p.Lys565Thr)
NM_024649.5(BBS1):c.1695+4G>C
NM_024649.5(BBS1):c.1695G>A (p.Lys565=) rs1555050427
NM_024649.5(BBS1):c.1696-10T>G
NM_024649.5(BBS1):c.1696-1G>A rs1856802024
NM_024649.5(BBS1):c.1702G>A (p.Val568Met) rs754300140
NM_024649.5(BBS1):c.1708C>G (p.Arg570Gly) rs1434577015
NM_024649.5(BBS1):c.1709G>A (p.Arg570Gln) rs1856803176
NM_024649.5(BBS1):c.1717C>T (p.Gln573Ter) rs1450045618
NM_024649.5(BBS1):c.1721G>A (p.Ser574Asn)
NM_024649.5(BBS1):c.1737T>G (p.Ser579Arg) rs1856804554
NM_024649.5(BBS1):c.1752G>A (p.Met584Ile) rs769773058
NM_024649.5(BBS1):c.1753C>A (p.Pro585Thr)
NM_024649.5(BBS1):c.1777G>T (p.Ala593Ser)
NM_024649.5(BBS1):c.724-5T>A rs2134784385
NM_024649.5(BBS1):c.729C>A (p.Ser243Arg) rs1180861221
NM_024649.5(BBS1):c.731T>C (p.Leu244Pro) rs2134784436
NM_024649.5(BBS1):c.739G>C (p.Val247Leu)
NM_024649.5(BBS1):c.768G>C (p.Gln256His)
NM_024649.5(BBS1):c.771T>G (p.Phe257Leu) rs367686869
NM_024649.5(BBS1):c.785G>A (p.Arg262Gln)
NM_024649.5(BBS1):c.793G>A (p.Ala265Thr)
NM_024649.5(BBS1):c.794C>A (p.Ala265Glu) rs372939761
NM_024649.5(BBS1):c.794C>T (p.Ala265Val)
NM_024649.5(BBS1):c.830+72A>G rs2134785377
NM_024649.5(BBS1):c.831-3C>G rs113994179
NM_024649.5(BBS1):c.831-3C>T
NM_024649.5(BBS1):c.886A>G (p.Ile296Val)
NM_024649.5(BBS1):c.889C>T (p.Arg297Trp)
NM_024649.5(BBS1):c.907G>C (p.Val303Leu) rs2134795278
NM_024649.5(BBS1):c.910G>T (p.Val304Leu) rs1228755309
NM_024649.5(BBS1):c.938G>A (p.Gly313Asp) rs1280115378
NM_024649.5(BBS1):c.951+1G>C
NM_024649.5(BBS1):c.951+3G>A rs1590766778
NM_024649.5(BBS1):c.951+58C>T rs1856346961
NM_024649.5(BBS1):c.952-8C>G rs1856353251
NM_024649.5(BBS1):c.952G>A (p.Gly318Arg) rs1555048487
NM_024649.5(BBS1):c.971T>C (p.Val324Ala)
NM_024649.5(BBS1):c.982G>A (p.Ala328Thr)
NM_024649.5(BBS1):c.999G>A (p.Met333Ile) rs1856357942
NM_024649.5(BBS1):c.999G>T (p.Met333Ile) rs1856357942

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