ClinVar Miner

List of variants in gene WDPCP reported as uncertain significance for Bardet-Biedl syndrome

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Gene type:
ClinVar version:
Total variants: 271
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HGVS dbSNP gnomAD frequency
NM_015910.7(WDPCP):c.*604_*605del rs886056219 0.01222
NM_015910.7(WDPCP):c.83A>T (p.Asp28Val) rs144703991 0.00039
NM_015910.7(WDPCP):c.1729T>G (p.Phe577Val) rs141845729 0.00029
NM_015910.7(WDPCP):c.208+1G>A rs187135801 0.00028
NM_015910.7(WDPCP):c.1094A>G (p.Glu365Gly) rs201662623 0.00021
NM_015910.7(WDPCP):c.1789G>A (p.Val597Ile) rs776917693 0.00020
NM_015910.7(WDPCP):c.13T>C (p.Phe5Leu) rs768802269 0.00019
NM_015910.7(WDPCP):c.1438G>A (p.Val480Ile) rs201412509 0.00016
NM_015910.7(WDPCP):c.1079C>T (p.Ser360Leu) rs141011629 0.00014
NM_015910.7(WDPCP):c.160G>A (p.Asp54Asn) rs200322968 0.00011
NM_015910.7(WDPCP):c.728C>T (p.Pro243Leu) rs368933340 0.00011
NM_015910.7(WDPCP):c.2179G>A (p.Gly727Ser) rs369786224 0.00010
NM_015910.7(WDPCP):c.1055T>A (p.Leu352Gln) rs373387599 0.00009
NM_015910.7(WDPCP):c.1888G>A (p.Asp630Asn) rs760742250 0.00008
NM_015910.7(WDPCP):c.878C>G (p.Thr293Ser) rs765923597 0.00008
NM_015910.7(WDPCP):c.842G>A (p.Arg281His) rs3738877 0.00007
NM_015910.6(WDPCP):c.-227C>G rs376940318 0.00006
NM_015910.7(WDPCP):c.1102C>T (p.Arg368Cys) rs769112221 0.00006
NM_015910.7(WDPCP):c.739G>A (p.Asp247Asn) rs376249713 0.00006
NM_015910.7(WDPCP):c.1103G>A (p.Arg368His) rs749677469 0.00005
NM_015910.7(WDPCP):c.2161G>A (p.Gly721Arg) rs563554007 0.00005
NM_015910.7(WDPCP):c.221G>A (p.Gly74Asp) rs368745542 0.00005
NM_015910.7(WDPCP):c.124C>T (p.His42Tyr) rs747767839 0.00004
NM_015910.7(WDPCP):c.1417G>A (p.Val473Met) rs374807784 0.00004
NM_015910.7(WDPCP):c.159G>A (p.Ala53=) rs192196713 0.00004
NM_015910.7(WDPCP):c.1624+6A>G rs370961530 0.00004
NM_015910.7(WDPCP):c.209C>T (p.Ala70Val) rs141761524 0.00004
NM_015910.7(WDPCP):c.158C>T (p.Ala53Val) rs149347732 0.00003
NM_015910.7(WDPCP):c.1799G>A (p.Arg600His) rs375036014 0.00003
NM_015910.7(WDPCP):c.25G>C (p.Ala9Pro) rs780151486 0.00003
NM_015910.7(WDPCP):c.272C>T (p.Thr91Met) rs753130718 0.00003
NM_015910.7(WDPCP):c.286C>T (p.Arg96Cys) rs375338402 0.00003
NM_015910.7(WDPCP):c.410T>C (p.Val137Ala) rs780789710 0.00003
NM_015910.7(WDPCP):c.691A>G (p.Ile231Val) rs769180655 0.00003
NM_015910.7(WDPCP):c.806A>G (p.Tyr269Cys) rs749575727 0.00003
NM_015910.7(WDPCP):c.841C>T (p.Arg281Cys) rs747564290 0.00003
NM_015910.7(WDPCP):c.1379A>T (p.Asp460Val) rs367834809 0.00002
NM_015910.7(WDPCP):c.1436-4A>G rs773663574 0.00002
NM_015910.7(WDPCP):c.151C>T (p.His51Tyr) rs779689937 0.00002
NM_015910.7(WDPCP):c.1784T>A (p.Val595Asp) rs761696659 0.00002
NM_015910.7(WDPCP):c.1916-4A>G rs764595056 0.00002
NM_015910.7(WDPCP):c.2003C>T (p.Pro668Leu) rs757409957 0.00002
NM_015910.7(WDPCP):c.208+6G>T rs775227440 0.00002
NM_015910.7(WDPCP):c.2210C>A (p.Ser737Tyr) rs746369214 0.00002
NM_015910.7(WDPCP):c.333G>A (p.Met111Ile) rs778069760 0.00002
NM_015910.7(WDPCP):c.334C>G (p.Gln112Glu) rs758543575 0.00002
NM_015910.7(WDPCP):c.685C>G (p.Leu229Val) rs762453550 0.00002
NM_015910.6(WDPCP):c.-301G>A rs886056227 0.00001
NM_015910.7(WDPCP):c.1018G>T (p.Ala340Ser) rs779714128 0.00001
NM_015910.7(WDPCP):c.1049A>G (p.Asp350Gly) rs1469275937 0.00001
NM_015910.7(WDPCP):c.1101C>A (p.His367Gln) rs904401906 0.00001
NM_015910.7(WDPCP):c.1186A>C (p.Ser396Arg) rs936904170 0.00001
NM_015910.7(WDPCP):c.1201T>G (p.Leu401Val) rs1040913823 0.00001
NM_015910.7(WDPCP):c.1206A>T (p.Gln402His) rs1441739882 0.00001
NM_015910.7(WDPCP):c.1258C>T (p.Arg420Cys) rs769165669 0.00001
NM_015910.7(WDPCP):c.1259G>A (p.Arg420His) rs749726622 0.00001
NM_015910.7(WDPCP):c.1267A>G (p.Arg423Gly) rs745555236 0.00001
NM_015910.7(WDPCP):c.1291T>G (p.Leu431Val) rs746549040 0.00001
NM_015910.7(WDPCP):c.1331T>G (p.Ile444Arg) rs373940251 0.00001
NM_015910.7(WDPCP):c.1448G>A (p.Arg483Gln) rs544657165 0.00001
NM_015910.7(WDPCP):c.1451G>A (p.Gly484Glu) rs750245323 0.00001
NM_015910.7(WDPCP):c.1466T>C (p.Ile489Thr) rs370842356 0.00001
NM_015910.7(WDPCP):c.1505A>G (p.Tyr502Cys) rs559295906 0.00001
NM_015910.7(WDPCP):c.1511C>T (p.Ala504Val) rs1462636982 0.00001
NM_015910.7(WDPCP):c.1546C>G (p.Leu516Val) rs766821661 0.00001
NM_015910.7(WDPCP):c.1576G>A (p.Ala526Thr) rs534102944 0.00001
NM_015910.7(WDPCP):c.1606C>G (p.Leu536Val) rs955196377 0.00001
NM_015910.7(WDPCP):c.166G>C (p.Asp56His) rs375016562 0.00001
NM_015910.7(WDPCP):c.1670C>T (p.Pro557Leu) rs760413825 0.00001
NM_015910.7(WDPCP):c.1687A>G (p.Ile563Val) rs1168632851 0.00001
NM_015910.7(WDPCP):c.1705C>G (p.Gln569Glu) rs1026359002 0.00001
NM_015910.7(WDPCP):c.170T>C (p.Ile57Thr) rs757037739 0.00001
NM_015910.7(WDPCP):c.1730T>G (p.Phe577Cys) rs1439554090 0.00001
NM_015910.7(WDPCP):c.1798C>T (p.Arg600Cys) rs747517141 0.00001
NM_015910.7(WDPCP):c.193A>G (p.Lys65Glu) rs750924240 0.00001
NM_015910.7(WDPCP):c.1951A>C (p.Asn651His) rs373413042 0.00001
NM_015910.7(WDPCP):c.1982C>T (p.Pro661Leu) rs572858289 0.00001
NM_015910.7(WDPCP):c.2010C>A (p.Asn670Lys) rs1242470451 0.00001
NM_015910.7(WDPCP):c.2047C>A (p.Gln683Lys) rs765674630 0.00001
NM_015910.7(WDPCP):c.2147G>A (p.Cys716Tyr) rs772286167 0.00001
NM_015910.7(WDPCP):c.2149A>C (p.Asn717His) rs748189167 0.00001
NM_015910.7(WDPCP):c.2159-14A>G rs748390681 0.00001
NM_015910.7(WDPCP):c.2173G>A (p.Glu725Lys) rs1370629959 0.00001
NM_015910.7(WDPCP):c.2190+1G>A rs1671980611 0.00001
NM_015910.7(WDPCP):c.21G>C (p.Trp7Cys) rs1200911623 0.00001
NM_015910.7(WDPCP):c.243G>T (p.Lys81Asn) rs1206045016 0.00001
NM_015910.7(WDPCP):c.24C>G (p.Asp8Glu) rs548483405 0.00001
NM_015910.7(WDPCP):c.253T>G (p.Ser85Ala) rs866240226 0.00001
NM_015910.7(WDPCP):c.270G>T (p.Trp90Cys) rs758930140 0.00001
NM_015910.7(WDPCP):c.302G>A (p.Arg101Gln) rs746158542 0.00001
NM_015910.7(WDPCP):c.304G>C (p.Asp102His) rs757449444 0.00001
NM_015910.7(WDPCP):c.308C>T (p.Ser103Leu) rs376758858 0.00001
NM_015910.7(WDPCP):c.316G>C (p.Glu106Gln) rs1444169850 0.00001
NM_015910.7(WDPCP):c.332T>C (p.Met111Thr) rs1392647874 0.00001
NM_015910.7(WDPCP):c.385-8G>A rs1277892197 0.00001
NM_015910.7(WDPCP):c.413C>T (p.Ser138Phe) rs756891717 0.00001
NM_015910.7(WDPCP):c.424T>C (p.Ser142Pro) rs529607482 0.00001
NM_015910.7(WDPCP):c.451A>C (p.Ile151Leu) rs776529473 0.00001
NM_015910.7(WDPCP):c.46A>C (p.Ser16Arg) rs952535961 0.00001
NM_015910.7(WDPCP):c.56C>T (p.Ser19Phe) rs781606829 0.00001
NM_015910.7(WDPCP):c.581A>G (p.Glu194Gly) rs750252971 0.00001
NM_015910.7(WDPCP):c.634A>C (p.Ile212Leu) rs755148252 0.00001
NM_015910.7(WDPCP):c.655G>A (p.Gly219Ser) rs761312526 0.00001
NM_015910.7(WDPCP):c.677A>T (p.Glu226Val) rs774816454 0.00001
NM_015910.7(WDPCP):c.757G>A (p.Ala253Thr) rs531251663 0.00001
NM_015910.7(WDPCP):c.805T>C (p.Tyr269His) rs1374748295 0.00001
NM_015910.7(WDPCP):c.856C>T (p.Pro286Ser) rs367653779 0.00001
NM_015910.7(WDPCP):c.940G>A (p.Ala314Thr) rs1694413400 0.00001
NM_015910.7(WDPCP):c.952A>G (p.Ile318Val) rs747114578 0.00001
NM_015910.7(WDPCP):c.967C>T (p.Arg323Trp) rs545767612 0.00001
NM_015910.7(WDPCP):c.968G>A (p.Arg323Gln) rs991936622 0.00001
NC_000002.11:g.(?_63349141)_(63380709_?)del
NC_000002.11:g.(?_63380029)_(63401987_?)del
NC_000002.11:g.(?_63486422)_(63609249_?)del
NC_000002.11:g.(?_63540363)_(63667025_?)del
NC_000002.11:g.(?_63660859)_(63667025_?)dup
NC_000002.12:g.(?_63484584)_(63492960_?)del
NM_015910.6(WDPCP):c.-322delT rs886056228
NM_015910.7(WDPCP):c.*138GTTT[1] rs886056221
NM_015910.7(WDPCP):c.*586AG[2] rs886056220
NM_015910.7(WDPCP):c.-108GCG[6] rs563531309
NM_015910.7(WDPCP):c.1023C>G (p.Ile341Met) rs2105191115
NM_015910.7(WDPCP):c.1028G>A (p.Cys343Tyr) rs755715881
NM_015910.7(WDPCP):c.102G>A (p.Met34Ile) rs1233974354
NM_015910.7(WDPCP):c.1053A>C (p.Lys351Asn)
NM_015910.7(WDPCP):c.1081C>G (p.Leu361Val)
NM_015910.7(WDPCP):c.10G>A (p.Glu4Lys) rs763789574
NM_015910.7(WDPCP):c.1108G>C (p.Val370Leu)
NM_015910.7(WDPCP):c.1156C>T (p.His386Tyr)
NM_015910.7(WDPCP):c.1166G>A (p.Gly389Asp) rs1575343526
NM_015910.7(WDPCP):c.1180G>C (p.Val394Leu) rs1694385958
NM_015910.7(WDPCP):c.1181T>C (p.Val394Ala)
NM_015910.7(WDPCP):c.1231A>G (p.Ile411Val)
NM_015910.7(WDPCP):c.1237A>G (p.Ile413Val) rs1694378572
NM_015910.7(WDPCP):c.1238T>G (p.Ile413Ser) rs952405240
NM_015910.7(WDPCP):c.1295T>C (p.Phe432Ser)
NM_015910.7(WDPCP):c.1297G>T (p.Asp433Tyr)
NM_015910.7(WDPCP):c.130T>C (p.Trp44Arg) rs1280928455
NM_015910.7(WDPCP):c.1322T>C (p.Met441Thr) rs886056224
NM_015910.7(WDPCP):c.133T>G (p.Ser45Ala) rs1232978776
NM_015910.7(WDPCP):c.1340A>G (p.Gln447Arg) rs2105185377
NM_015910.7(WDPCP):c.1356G>T (p.Lys452Asn) rs372258764
NM_015910.7(WDPCP):c.1358G>T (p.Gly453Val)
NM_015910.7(WDPCP):c.1373T>C (p.Ile458Thr) rs2105184946
NM_015910.7(WDPCP):c.1415G>A (p.Gly472Asp) rs1694358624
NM_015910.7(WDPCP):c.1421T>C (p.Leu474Pro) rs1575342542
NM_015910.7(WDPCP):c.1435+18A>G rs777055382
NM_015910.7(WDPCP):c.1435+4A>C rs1694355240
NM_015910.7(WDPCP):c.1457T>C (p.Leu486Pro) rs2104901919
NM_015910.7(WDPCP):c.1471A>G (p.Ile491Val) rs1160883774
NM_015910.7(WDPCP):c.1491C>G (p.His497Gln) rs577571642
NM_015910.7(WDPCP):c.1519A>T (p.Ile507Phe) rs754985173
NM_015910.7(WDPCP):c.1527C>A (p.Ser509Arg)
NM_015910.7(WDPCP):c.1530C>A (p.Ser510Arg) rs1417068972
NM_015910.7(WDPCP):c.1533G>A (p.Met511Ile) rs2104900509
NM_015910.7(WDPCP):c.1538G>C (p.Trp513Ser) rs2104900470
NM_015910.7(WDPCP):c.1547T>A (p.Leu516Gln) rs1692348691
NM_015910.7(WDPCP):c.154A>G (p.Ile52Val)
NM_015910.7(WDPCP):c.1559G>A (p.Cys520Tyr) rs1692347777
NM_015910.7(WDPCP):c.1574G>A (p.Ser525Asn)
NM_015910.7(WDPCP):c.1591CTT[1] (p.Leu532del) rs748711953
NM_015910.7(WDPCP):c.1625-3C>T rs1692041154
NM_015910.7(WDPCP):c.1651T>G (p.Phe551Val) rs992864301
NM_015910.7(WDPCP):c.1652T>G (p.Phe551Cys) rs1333720503
NM_015910.7(WDPCP):c.1655A>G (p.Tyr552Cys)
NM_015910.7(WDPCP):c.1676T>C (p.Leu559Pro) rs2104858625
NM_015910.7(WDPCP):c.1703A>C (p.Asp568Ala)
NM_015910.7(WDPCP):c.1703A>T (p.Asp568Val)
NM_015910.7(WDPCP):c.1715A>C (p.Lys572Thr)
NM_015910.7(WDPCP):c.172G>A (p.Gly58Arg) rs190629484
NM_015910.7(WDPCP):c.1731C>A (p.Phe577Leu) rs778132438
NM_015910.7(WDPCP):c.1736A>C (p.His579Pro)
NM_015910.7(WDPCP):c.1748+3G>C rs2104857373
NM_015910.7(WDPCP):c.1796C>T (p.Ala599Val)
NM_015910.7(WDPCP):c.1798C>G (p.Arg600Gly) rs747517141
NM_015910.7(WDPCP):c.1799G>C (p.Arg600Pro)
NM_015910.7(WDPCP):c.1812+3G>A
NM_015910.7(WDPCP):c.1813-3C>T rs772639117
NM_015910.7(WDPCP):c.1817T>G (p.Ile606Ser)
NM_015910.7(WDPCP):c.1818T>G (p.Ile606Met)
NM_015910.7(WDPCP):c.181C>A (p.Gln61Lys)
NM_015910.7(WDPCP):c.1846T>A (p.Leu616Met) rs779790542
NM_015910.7(WDPCP):c.1849G>A (p.Ala617Thr) rs765912876
NM_015910.7(WDPCP):c.187T>G (p.Tyr63Asp)
NM_015910.7(WDPCP):c.1882G>A (p.Asp628Asn)
NM_015910.7(WDPCP):c.1915+3A>C rs2104771665
NM_015910.7(WDPCP):c.1922T>G (p.Leu641Arg) rs1673680183
NM_015910.7(WDPCP):c.1942G>T (p.Asp648Tyr)
NM_015910.7(WDPCP):c.1945A>G (p.Met649Val) rs759281211
NM_015910.7(WDPCP):c.1970T>C (p.Leu657Pro)
NM_015910.7(WDPCP):c.1991A>T (p.Glu664Val)
NM_015910.7(WDPCP):c.1A>C (p.Met1Leu)
NM_015910.7(WDPCP):c.2001T>G (p.Phe667Leu)
NM_015910.7(WDPCP):c.2017C>T (p.Pro673Ser)
NM_015910.7(WDPCP):c.2051A>G (p.Gln684Arg)
NM_015910.7(WDPCP):c.2078G>T (p.Arg693Ile)
NM_015910.7(WDPCP):c.2079-3C>T
NM_015910.7(WDPCP):c.2083A>G (p.Ile695Val)
NM_015910.7(WDPCP):c.2087T>C (p.Ile696Thr) rs1672025805
NM_015910.7(WDPCP):c.2089G>C (p.Asp697His)
NM_015910.7(WDPCP):c.2102A>C (p.Glu701Ala)
NM_015910.7(WDPCP):c.2107G>C (p.Glu703Gln)
NM_015910.7(WDPCP):c.2123C>A (p.Ser708Tyr) rs1672022341
NM_015910.7(WDPCP):c.2125G>A (p.Gly709Arg) rs1228276176
NM_015910.7(WDPCP):c.2171G>C (p.Arg724Thr)
NM_015910.7(WDPCP):c.218A>G (p.His73Arg) rs1481685257
NM_015910.7(WDPCP):c.2192A>T (p.Glu731Val) rs1669577990
NM_015910.7(WDPCP):c.2230G>A (p.Gly744Ser) rs1669575177
NM_015910.7(WDPCP):c.227T>C (p.Leu76Ser)
NM_015910.7(WDPCP):c.242A>G (p.Lys81Arg) rs545984327
NM_015910.7(WDPCP):c.26C>G (p.Ala9Gly) rs2106583961
NM_015910.7(WDPCP):c.287G>A (p.Arg96His)
NM_015910.7(WDPCP):c.296A>C (p.Lys99Thr) rs772670414
NM_015910.7(WDPCP):c.296A>G (p.Lys99Arg)
NM_015910.7(WDPCP):c.29_31del (p.Tyr10del) rs2106583906
NM_015910.7(WDPCP):c.304G>A (p.Asp102Asn)
NM_015910.7(WDPCP):c.313A>G (p.Lys105Glu) rs2105907063
NM_015910.7(WDPCP):c.324+6T>C rs1700475057
NM_015910.7(WDPCP):c.32C>T (p.Ser11Phe)
NM_015910.7(WDPCP):c.335A>G (p.Gln112Arg)
NM_015910.7(WDPCP):c.344G>A (p.Arg115Gln) rs748871007
NM_015910.7(WDPCP):c.346T>G (p.Cys116Gly)
NM_015910.7(WDPCP):c.385-3T>C rs2105522569
NM_015910.7(WDPCP):c.394G>C (p.Gly132Arg) rs1697389440
NM_015910.7(WDPCP):c.396T>C (p.Gly132=)
NM_015910.7(WDPCP):c.428G>A (p.Gly143Glu) rs1697385242
NM_015910.7(WDPCP):c.440A>G (p.Glu147Gly)
NM_015910.7(WDPCP):c.442A>G (p.Lys148Glu) rs373247460
NM_015910.7(WDPCP):c.452T>C (p.Ile151Thr)
NM_015910.7(WDPCP):c.467T>G (p.Val156Gly)
NM_015910.7(WDPCP):c.473A>G (p.Lys158Arg)
NM_015910.7(WDPCP):c.47G>A (p.Ser16Asn) rs1709010736
NM_015910.7(WDPCP):c.493A>G (p.Ser165Gly)
NM_015910.7(WDPCP):c.499+3A>G
NM_015910.7(WDPCP):c.514A>C (p.Ser172Arg)
NM_015910.7(WDPCP):c.52G>C (p.Ala18Pro) rs1381507084
NM_015910.7(WDPCP):c.535T>G (p.Leu179Val)
NM_015910.7(WDPCP):c.53C>T (p.Ala18Val)
NM_015910.7(WDPCP):c.549A>T (p.Lys183Asn) rs1697214336
NM_015910.7(WDPCP):c.551T>C (p.Leu184Pro) rs1198983391
NM_015910.7(WDPCP):c.5G>A (p.Arg2Lys)
NM_015910.7(WDPCP):c.620C>G (p.Ala207Gly)
NM_015910.7(WDPCP):c.629A>G (p.Tyr210Cys) rs1697208498
NM_015910.7(WDPCP):c.634-7T>G
NM_015910.7(WDPCP):c.654C>A (p.Pro218=)
NM_015910.7(WDPCP):c.680G>A (p.Arg227Gln)
NM_015910.7(WDPCP):c.680_682del (p.Arg227del)
NM_015910.7(WDPCP):c.688G>T (p.Ala230Ser) rs937072665
NM_015910.7(WDPCP):c.68C>G (p.Pro23Arg)
NM_015910.7(WDPCP):c.68C>T (p.Pro23Leu) rs141340867
NM_015910.7(WDPCP):c.704A>C (p.His235Pro) rs567879550
NM_015910.7(WDPCP):c.71G>A (p.Arg24Lys)
NM_015910.7(WDPCP):c.730C>G (p.Leu244Val) rs1177072150
NM_015910.7(WDPCP):c.73C>A (p.Gln25Lys) rs1324126661
NM_015910.7(WDPCP):c.75+3G>C
NM_015910.7(WDPCP):c.76-3C>T rs1700986922
NM_015910.7(WDPCP):c.760_786del (p.Pro254_Ala262del) rs774995085
NM_015910.7(WDPCP):c.763A>G (p.Ile255Val) rs764485190
NM_015910.7(WDPCP):c.763A>T (p.Ile255Phe) rs764485190
NM_015910.7(WDPCP):c.779A>T (p.Asp260Val) rs2105466361
NM_015910.7(WDPCP):c.785C>T (p.Ala262Val)
NM_015910.7(WDPCP):c.826-9_826-6del rs2105194923
NM_015910.7(WDPCP):c.845C>G (p.Thr282Arg) rs1241185405
NM_015910.7(WDPCP):c.852G>C (p.Trp284Cys) rs2105194171
NM_015910.7(WDPCP):c.869G>A (p.Arg290His) rs753480088
NM_015910.7(WDPCP):c.875G>T (p.Gly292Val)
NM_015910.7(WDPCP):c.922G>A (p.Val308Ile) rs2105192919
NM_015910.7(WDPCP):c.928A>G (p.Lys310Glu)
NM_015910.7(WDPCP):c.955T>G (p.Tyr319Asp) rs863224771
NM_015910.7(WDPCP):c.970A>T (p.Asn324Tyr)
NM_015910.7(WDPCP):c.99G>C (p.Gln33His)

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