ClinVar Miner

List of variants studied for Orofaciodigital syndrome type 6; Joubert syndrome 17

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 225
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HGVS dbSNP gnomAD frequency
NM_001384732.1(CPLANE1):c.1809T>C (p.Thr603=) rs115435816 0.01890
NM_001384732.1(CPLANE1):c.5512A>G (p.Thr1838Ala) rs76245173 0.01809
NM_001384732.1(CPLANE1):c.8344C>A (p.Pro2782Thr) rs77014998 0.00719
NM_001384732.1(CPLANE1):c.4134T>C (p.Pro1378=) rs79935028 0.00635
NM_001384732.1(CPLANE1):c.9138C>G (p.Pro3046=) rs16903511 0.00353
NM_001384732.1(CPLANE1):c.8769A>G (p.Thr2923=) rs16903514 0.00352
NM_001384732.1(CPLANE1):c.8568G>C (p.Val2856=) rs145215555 0.00174
NM_001384732.1(CPLANE1):c.8374-15G>A rs74881219 0.00111
NM_001384732.1(CPLANE1):c.994A>G (p.Met332Val) rs369404481 0.00098
NM_001384732.1(CPLANE1):c.2855A>G (p.Asn952Ser) rs554483416 0.00057
NM_001384732.1(CPLANE1):c.8678C>T (p.Pro2893Leu) rs147426388 0.00046
NM_001384732.1(CPLANE1):c.3012T>C (p.Tyr1004=) rs546670307 0.00043
NM_001384732.1(CPLANE1):c.9016A>G (p.Arg3006Gly) rs116198390 0.00036
NM_001384732.1(CPLANE1):c.7275G>A (p.Ala2425=) rs137899908 0.00035
NM_001384732.1(CPLANE1):c.3150-12A>G rs755478099 0.00031
NM_001384732.1(CPLANE1):c.5820+7C>T rs185534019 0.00031
NM_001384732.1(CPLANE1):c.6443A>G (p.Asn2148Ser) rs150999024 0.00031
NM_001384732.1(CPLANE1):c.7616C>T (p.Ala2539Val) rs150595284 0.00022
NM_001384732.1(CPLANE1):c.9579+7A>G rs369166609 0.00022
NM_001384732.1(CPLANE1):c.5820+8A>G rs181096718 0.00021
NM_001384732.1(CPLANE1):c.5651A>C (p.Lys1884Thr) rs373865796 0.00019
NM_001384732.1(CPLANE1):c.82-14G>A rs180804052 0.00019
NM_001384732.1(CPLANE1):c.9220C>T (p.Arg3074Ter) rs374144275 0.00019
NM_001384732.1(CPLANE1):c.1655C>T (p.Thr552Met) rs77739540 0.00014
NM_001384732.1(CPLANE1):c.420T>C (p.Leu140=) rs1056117590 0.00014
NM_001384732.1(CPLANE1):c.1271G>A (p.Arg424Gln) rs369204500 0.00012
NM_001384732.1(CPLANE1):c.1487A>G (p.Glu496Gly) rs938547995 0.00012
NM_001384732.1(CPLANE1):c.338C>A (p.Ala113Glu) rs534807606 0.00012
NM_001384732.1(CPLANE1):c.834+15G>A rs373984590 0.00012
NM_001384732.1(CPLANE1):c.9307C>T (p.His3103Tyr) rs145378102 0.00012
NM_001384732.1(CPLANE1):c.1645A>G (p.Met549Val) rs563502625 0.00011
NM_001384732.1(CPLANE1):c.1222C>T (p.Arg408Trp) rs189796608 0.00010
NM_001384732.1(CPLANE1):c.5195A>G (p.Asp1732Gly) rs756274300 0.00010
NM_001384732.1(CPLANE1):c.2446C>G (p.Leu816Val) rs192335673 0.00009
NM_001384732.1(CPLANE1):c.9700A>T (p.Met3234Leu) rs770395082 0.00009
NM_001384732.1(CPLANE1):c.3130C>T (p.Arg1044Cys) rs376987361 0.00008
NM_001384732.1(CPLANE1):c.8474C>T (p.Thr2825Ile) rs142316931 0.00008
NM_001384732.1(CPLANE1):c.9031G>A (p.Glu3011Lys) rs200358545 0.00008
NM_001384732.1(CPLANE1):c.9524C>T (p.Thr3175Met) rs587783354 0.00008
NM_001384732.1(CPLANE1):c.1472A>T (p.Lys491Ile) rs761746624 0.00007
NM_001384732.1(CPLANE1):c.493del (p.Ile165fs) rs606231259 0.00007
NM_001384732.1(CPLANE1):c.6158T>A (p.Phe2053Tyr) rs189493985 0.00007
NM_001384732.1(CPLANE1):c.8739C>T (p.Asp2913=) rs376535591 0.00007
NM_001384732.1(CPLANE1):c.9371C>T (p.Ala3124Val) rs372396805 0.00007
NM_001384732.1(CPLANE1):c.1123C>T (p.Pro375Ser) rs774016809 0.00006
NM_001384732.1(CPLANE1):c.1303A>G (p.Met435Val) rs1184764389 0.00006
NM_001384732.1(CPLANE1):c.1371+5A>G rs794727005 0.00006
NM_001384732.1(CPLANE1):c.1784T>G (p.Leu595Ter) rs530569572 0.00006
NM_001384732.1(CPLANE1):c.1969G>A (p.Val657Met) rs529419886 0.00006
NM_001384732.1(CPLANE1):c.2377C>T (p.Gln793Ter) rs776886962 0.00006
NM_001384732.1(CPLANE1):c.3474A>G (p.Pro1158=) rs148286269 0.00006
NM_001384732.1(CPLANE1):c.5729A>C (p.Asp1910Ala) rs759558910 0.00006
NM_001384732.1(CPLANE1):c.6644A>G (p.His2215Arg) rs556705113 0.00006
NM_001384732.1(CPLANE1):c.7296A>G (p.Lys2432=) rs374320265 0.00006
NM_001384732.1(CPLANE1):c.7477C>T (p.Arg2493Ter) rs139675596 0.00006
NM_001384732.1(CPLANE1):c.7940C>T (p.Ser2647Leu) rs202140926 0.00006
NM_001384732.1(CPLANE1):c.7958A>G (p.Tyr2653Cys) rs371374142 0.00006
NM_001384732.1(CPLANE1):c.9044G>A (p.Arg3015His) rs771622959 0.00006
NM_001384732.1(CPLANE1):c.938+20T>C rs1391242118 0.00006
NM_001384732.1(CPLANE1):c.93C>T (p.Ala31=) rs200942752 0.00006
NM_001384732.1(CPLANE1):c.1545C>T (p.Asn515=) rs773819961 0.00005
NM_001384732.1(CPLANE1):c.3100A>G (p.Ile1034Val) rs965483152 0.00005
NM_001384732.1(CPLANE1):c.3897A>G (p.Ala1299=) rs372380629 0.00005
NM_001384732.1(CPLANE1):c.5311T>C (p.Tyr1771His) rs748355456 0.00005
NM_001384732.1(CPLANE1):c.532_534del (p.Lys178del) rs886043021 0.00005
NM_001384732.1(CPLANE1):c.8197C>T (p.Arg2733Trp) rs142792453 0.00005
NM_001384732.1(CPLANE1):c.1270C>T (p.Arg424Ter) rs755097302 0.00004
NM_001384732.1(CPLANE1):c.2544G>C (p.Gln848His) rs199749415 0.00004
NM_001384732.1(CPLANE1):c.2645A>G (p.Tyr882Cys) rs1012462823 0.00004
NM_001384732.1(CPLANE1):c.3620T>C (p.Val1207Ala) rs763642816 0.00004
NM_001384732.1(CPLANE1):c.3839G>A (p.Cys1280Tyr) rs149685637 0.00004
NM_001384732.1(CPLANE1):c.4633C>T (p.Arg1545Cys) rs775743007 0.00004
NM_001384732.1(CPLANE1):c.5141C>T (p.Thr1714Ile) rs1424442518 0.00004
NM_001384732.1(CPLANE1):c.5203T>G (p.Leu1735Val) rs369286097 0.00004
NM_001384732.1(CPLANE1):c.6027G>T (p.Leu2009=) rs772082205 0.00004
NM_001384732.1(CPLANE1):c.7080G>A (p.Pro2360=) rs769298457 0.00004
NM_001384732.1(CPLANE1):c.7154C>T (p.Thr2385Ile) rs369361493 0.00004
NM_001384732.1(CPLANE1):c.7578C>T (p.Asp2526=) rs561079089 0.00004
NM_001384732.1(CPLANE1):c.7589-12A>C rs767934439 0.00004
NM_001384732.1(CPLANE1):c.8120-6A>G rs373606578 0.00004
NM_001384732.1(CPLANE1):c.8747C>G (p.Ser2916Cys) rs1454812528 0.00004
NM_001384732.1(CPLANE1):c.8872C>T (p.Arg2958Ter) rs141507441 0.00004
NM_001384732.1(CPLANE1):c.8930A>G (p.His2977Arg) rs767695592 0.00004
NM_001384732.1(CPLANE1):c.9038A>G (p.Tyr3013Cys) rs143453963 0.00004
NM_001384732.1(CPLANE1):c.9046C>T (p.Arg3016Ter) rs150242262 0.00004
NM_001384732.1(CPLANE1):c.1055C>T (p.Thr352Ile) rs1443893630 0.00003
NM_001384732.1(CPLANE1):c.1839A>C (p.Lys613Asn) rs533310477 0.00003
NM_001384732.1(CPLANE1):c.1964A>C (p.Gln655Pro) rs923514393 0.00003
NM_001384732.1(CPLANE1):c.2428T>G (p.Cys810Gly) rs886060581 0.00003
NM_001384732.1(CPLANE1):c.2902C>T (p.Pro968Ser) rs980413221 0.00003
NM_001384732.1(CPLANE1):c.3364G>A (p.Asp1122Asn) rs775457117 0.00003
NM_001384732.1(CPLANE1):c.4055T>C (p.Ile1352Thr) rs759005825 0.00003
NM_001384732.1(CPLANE1):c.4156C>T (p.Leu1386Phe) rs769304117 0.00003
NM_001384732.1(CPLANE1):c.4678T>C (p.Tyr1560His) rs772945484 0.00003
NM_001384732.1(CPLANE1):c.570+12C>T rs1339498232 0.00003
NM_001384732.1(CPLANE1):c.6538C>G (p.Gln2180Glu) rs138088605 0.00003
NM_001384732.1(CPLANE1):c.8432C>T (p.Ala2811Val) rs140657139 0.00003
NM_001384732.1(CPLANE1):c.8594G>A (p.Ser2865Asn) rs752341833 0.00003
NM_001384732.1(CPLANE1):c.8679G>A (p.Pro2893=) rs370303703 0.00003
NM_001384732.1(CPLANE1):c.9227G>A (p.Gly3076Glu) rs376064818 0.00003
NM_001384732.1(CPLANE1):c.1348T>G (p.Tyr450Asp) rs1204605921 0.00002
NM_001384732.1(CPLANE1):c.1465G>T (p.Val489Phe) rs372187548 0.00002
NM_001384732.1(CPLANE1):c.1623A>G (p.Glu541=) rs1420586506 0.00002
NM_001384732.1(CPLANE1):c.2354G>A (p.Arg785Gln) rs535811932 0.00002
NM_001384732.1(CPLANE1):c.3508-19A>G rs754906346 0.00002
NM_001384732.1(CPLANE1):c.4804C>T (p.Arg1602Ter) rs367543063 0.00002
NM_001384732.1(CPLANE1):c.4892C>T (p.Ser1631Leu) rs748759724 0.00002
NM_001384732.1(CPLANE1):c.5066A>G (p.Gln1689Arg) rs761691903 0.00002
NM_001384732.1(CPLANE1):c.5348C>A (p.Ala1783Asp) rs200444162 0.00002
NM_001384732.1(CPLANE1):c.5557C>T (p.Gln1853Ter) rs766699868 0.00002
NM_001384732.1(CPLANE1):c.5738-5G>A rs570312147 0.00002
NM_001384732.1(CPLANE1):c.5960C>T (p.Thr1987Met) rs141126113 0.00002
NM_001384732.1(CPLANE1):c.6511C>T (p.Arg2171Trp) rs371324866 0.00002
NM_001384732.1(CPLANE1):c.6734G>T (p.Ser2245Ile) rs750897841 0.00002
NM_001384732.1(CPLANE1):c.7079C>T (p.Pro2360Leu) rs779569678 0.00002
NM_001384732.1(CPLANE1):c.7562C>G (p.Pro2521Arg) rs922260468 0.00002
NM_001384732.1(CPLANE1):c.8791A>G (p.Arg2931Gly) rs953624404 0.00002
NM_001384732.1(CPLANE1):c.8828C>T (p.Thr2943Ile) rs778535345 0.00002
NM_001384732.1(CPLANE1):c.8894A>G (p.Tyr2965Cys) rs374005945 0.00002
NM_001384732.1(CPLANE1):c.9574C>G (p.Leu3192Val) rs886060572 0.00002
NM_001384732.1(CPLANE1):c.1115C>T (p.Thr372Met) rs1046843624 0.00001
NM_001384732.1(CPLANE1):c.1121+7C>T rs776591358 0.00001
NM_001384732.1(CPLANE1):c.1877del (p.Ser626fs) rs1327245073 0.00001
NM_001384732.1(CPLANE1):c.1958A>G (p.Tyr653Cys) rs1342297170 0.00001
NM_001384732.1(CPLANE1):c.212G>A (p.Ser71Asn) rs756811653 0.00001
NM_001384732.1(CPLANE1):c.2185A>G (p.Ile729Val) rs1010091096 0.00001
NM_001384732.1(CPLANE1):c.2208T>C (p.Ser736=) rs1561663335 0.00001
NM_001384732.1(CPLANE1):c.2413G>A (p.Val805Ile) rs1490492363 0.00001
NM_001384732.1(CPLANE1):c.2501-7T>C rs1315683149 0.00001
NM_001384732.1(CPLANE1):c.2664T>A (p.Asp888Glu) rs1287231108 0.00001
NM_001384732.1(CPLANE1):c.2824A>G (p.Met942Val) rs918958290 0.00001
NM_001384732.1(CPLANE1):c.2939T>C (p.Ile980Thr) rs1160747089 0.00001
NM_001384732.1(CPLANE1):c.3040C>G (p.Leu1014Val) rs969126655 0.00001
NM_001384732.1(CPLANE1):c.3245T>C (p.Leu1082Ser) rs943993886 0.00001
NM_001384732.1(CPLANE1):c.3379T>G (p.Ser1127Ala) rs776423792 0.00001
NM_001384732.1(CPLANE1):c.3415G>C (p.Asp1139His) rs1789225309 0.00001
NM_001384732.1(CPLANE1):c.3557A>G (p.Lys1186Arg) rs747382965 0.00001
NM_001384732.1(CPLANE1):c.364G>A (p.Val122Ile) rs1404949478 0.00001
NM_001384732.1(CPLANE1):c.3673-1G>C rs886041688 0.00001
NM_001384732.1(CPLANE1):c.4175A>G (p.His1392Arg) rs753392667 0.00001
NM_001384732.1(CPLANE1):c.4230T>C (p.Ser1410=) rs571145214 0.00001
NM_001384732.1(CPLANE1):c.4576G>T (p.Asp1526Tyr) rs1363054900 0.00001
NM_001384732.1(CPLANE1):c.4948T>C (p.Ser1650Pro) rs536461045 0.00001
NM_001384732.1(CPLANE1):c.5114T>C (p.Ile1705Thr) rs1160277331 0.00001
NM_001384732.1(CPLANE1):c.5210T>C (p.Leu1737Pro) rs781211084 0.00001
NM_001384732.1(CPLANE1):c.5327G>A (p.Arg1776His) rs757385488 0.00001
NM_001384732.1(CPLANE1):c.5737+15A>G rs1352836895 0.00001
NM_001384732.1(CPLANE1):c.5863G>C (p.Glu1955Gln) rs1042774343 0.00001
NM_001384732.1(CPLANE1):c.5876A>G (p.Glu1959Gly) rs1230715850 0.00001
NM_001384732.1(CPLANE1):c.5978+4A>G rs748763785 0.00001
NM_001384732.1(CPLANE1):c.6057A>G (p.Gln2019=) rs938358328 0.00001
NM_001384732.1(CPLANE1):c.6130G>A (p.Val2044Ile) rs773299420 0.00001
NM_001384732.1(CPLANE1):c.6186C>A (p.Asn2062Lys) rs755471609 0.00001
NM_001384732.1(CPLANE1):c.6309T>G (p.Cys2103Trp) rs749862200 0.00001
NM_001384732.1(CPLANE1):c.6463-17T>C rs753835579 0.00001
NM_001384732.1(CPLANE1):c.646C>T (p.Arg216Trp) rs543556323 0.00001
NM_001384732.1(CPLANE1):c.6595C>T (p.Leu2199Phe) rs572837877 0.00001
NM_001384732.1(CPLANE1):c.6647C>G (p.Ala2216Gly) rs749403465 0.00001
NM_001384732.1(CPLANE1):c.6724C>A (p.His2242Asn) rs752372376 0.00001
NM_001384732.1(CPLANE1):c.6815C>T (p.Pro2272Leu) rs777757781 0.00001
NM_001384732.1(CPLANE1):c.7400+1G>A rs367543062 0.00001
NM_001384732.1(CPLANE1):c.7401-14A>G rs1052354484 0.00001
NM_001384732.1(CPLANE1):c.7428G>T (p.Leu2476=) rs145750519 0.00001
NM_001384732.1(CPLANE1):c.7478G>A (p.Arg2493Gln) rs183942272 0.00001
NM_001384732.1(CPLANE1):c.7576G>A (p.Asp2526Asn) rs535480596 0.00001
NM_001384732.1(CPLANE1):c.7641A>G (p.Val2547=) rs771793682 0.00001
NM_001384732.1(CPLANE1):c.7736A>G (p.Tyr2579Cys) rs771614298 0.00001
NM_001384732.1(CPLANE1):c.7789A>G (p.Ile2597Val) rs774074728 0.00001
NM_001384732.1(CPLANE1):c.7871T>A (p.Leu2624Ter) rs749523755 0.00001
NM_001384732.1(CPLANE1):c.81G>A (p.Lys27=) rs1264949337 0.00001
NM_001384732.1(CPLANE1):c.8425_8426insG (p.Thr2809fs) rs1554064102 0.00001
NM_001384732.1(CPLANE1):c.8461+19G>A rs772961080 0.00001
NM_001384732.1(CPLANE1):c.8830G>C (p.Asp2944His) rs761880579 0.00001
NM_001384732.1(CPLANE1):c.9017+1G>A rs863225154 0.00001
NM_001384732.1(CPLANE1):c.9146C>T (p.Thr3049Ile) rs767189816 0.00001
NM_001384732.1(CPLANE1):c.9467A>G (p.Gln3156Arg) rs768570313 0.00001
NM_001384732.1(CPLANE1):c.9694G>A (p.Glu3232Lys) rs372215544 0.00001
NM_001384732.1(CPLANE1):c.1103A>G (p.His368Arg) rs1286291749
NM_001384732.1(CPLANE1):c.1311A>G (p.Ser437=) rs761587080
NM_001384732.1(CPLANE1):c.1372-2A>G rs886043786
NM_001384732.1(CPLANE1):c.1522-16dup rs370335300
NM_001384732.1(CPLANE1):c.1819del (p.Tyr607fs) rs777686211
NM_001384732.1(CPLANE1):c.1819dup (p.Tyr607fs) rs777686211
NM_001384732.1(CPLANE1):c.1823T>G (p.Ile608Ser) rs1194762831
NM_001384732.1(CPLANE1):c.202A>G (p.Thr68Ala) rs1002297986
NM_001384732.1(CPLANE1):c.2082G>A (p.Met694Ile) rs2150434091
NM_001384732.1(CPLANE1):c.2663A>G (p.Asp888Gly) rs1487026046
NM_001384732.1(CPLANE1):c.2709G>A (p.Trp903Ter) rs863225164
NM_001384732.1(CPLANE1):c.2746+15_2746+16del rs751625561
NM_001384732.1(CPLANE1):c.2746+16del rs751625561
NM_001384732.1(CPLANE1):c.2746+16dup rs751625561
NM_001384732.1(CPLANE1):c.2763_2764inv (p.His921_Phe922delinsGlnIle)
NM_001384732.1(CPLANE1):c.2937dup (p.Ile980fs) rs1561601398
NM_001384732.1(CPLANE1):c.3053dup (p.Val1019fs) rs2150128669
NM_001384732.1(CPLANE1):c.3130_3131insA (p.Arg1044fs) rs863225161
NM_001384732.1(CPLANE1):c.3407del (p.Ser1136fs) rs1561584225
NM_001384732.1(CPLANE1):c.3599C>A (p.Ala1200Glu) rs141153181
NM_001384732.1(CPLANE1):c.3673-8_3673-4del rs1163206555
NM_001384732.1(CPLANE1):c.3777_3788del (p.His1260_Asp1263del) rs566159499
NM_001384732.1(CPLANE1):c.4219G>T (p.Val1407Phe) rs2151179962
NM_001384732.1(CPLANE1):c.5040A>T (p.Leu1680Phe) rs1783124765
NM_001384732.1(CPLANE1):c.5051C>T (p.Ser1684Leu) rs2151150270
NM_001384732.1(CPLANE1):c.510del (p.Leu171fs) rs779680371
NM_001384732.1(CPLANE1):c.5255G>A (p.Arg1752Lys) rs763933855
NM_001384732.1(CPLANE1):c.5337del (p.Ser1780fs) rs777045246
NM_001384732.1(CPLANE1):c.5667_5668del (p.Ile1889_Asp1890insTer) rs962476553
NM_001384732.1(CPLANE1):c.6302G>T (p.Arg2101Ile) rs771457677
NM_001384732.1(CPLANE1):c.6398A>C (p.Lys2133Thr) rs1218344038
NM_001384732.1(CPLANE1):c.6456C>A (p.Asn2152Lys) rs186460995
NM_001384732.1(CPLANE1):c.6462G>A (p.Gln2154=)
NM_001384732.1(CPLANE1):c.6477del (p.Ser2160fs) rs747815682
NM_001384732.1(CPLANE1):c.6668A>T (p.Asp2223Val) rs538086941
NM_001384732.1(CPLANE1):c.699T>C (p.His233=) rs762115051
NM_001384732.1(CPLANE1):c.7032del (p.Lys2345fs) rs1779035528
NM_001384732.1(CPLANE1):c.7534-4_7534-3del rs1381389715
NM_001384732.1(CPLANE1):c.7972G>A (p.Val2658Ile) rs988332114
NM_001384732.1(CPLANE1):c.7984G>C (p.Val2662Leu) rs772274656
NM_001384732.1(CPLANE1):c.8011+12del rs774770884
NM_001384732.1(CPLANE1):c.8326_8328delinsTTT (p.Glu2776Phe) rs1561422940
NM_001384732.1(CPLANE1):c.8373+3A>G rs780519767
NM_001384732.1(CPLANE1):c.8374-13G>T rs771664716
NM_001384732.1(CPLANE1):c.8462-6G>C rs1029215971
NM_001384732.1(CPLANE1):c.8664-19A>G rs2150360134
NM_001384732.1(CPLANE1):c.8947A>T (p.Arg2983Ter) rs1345413118
NM_023073.3(CPLANE1):c.[2080A>G];[6968A>C]

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