ClinVar Miner

List of variants in gene CPLANE1 studied for Joubert syndrome

Included ClinVar conditions (57):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 227
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HGVS dbSNP
NM_023073.3(CPLANE1):c.*1318A>G rs145399031
NM_023073.3(CPLANE1):c.*1369C>A rs116197379
NM_023073.3(CPLANE1):c.*18G>T rs200332492
NM_023073.3(CPLANE1):c.*396T>C rs115541718
NM_023073.3(CPLANE1):c.*423C>G rs190089842
NM_023073.3(CPLANE1):c.*441A>C rs7712558
NM_023073.3(CPLANE1):c.*465G>A rs886060570
NM_023073.3(CPLANE1):c.*518T>C rs556117030
NM_023073.3(CPLANE1):c.*641C>T rs116744214
NM_023073.3(CPLANE1):c.*642G>A rs543018376
NM_023073.3(CPLANE1):c.*661T>G rs886060569
NM_023073.3(CPLANE1):c.*807A>G rs78011227
NM_023073.3(CPLANE1):c.*872A>C rs886060568
NM_023073.3(CPLANE1):c.*889A>G rs75549748
NM_023073.3(CPLANE1):c.*94G>T rs886060571
NM_023073.3(CPLANE1):c.1116G>A (p.Thr372=) rs551066377
NM_023073.3(CPLANE1):c.1123C>T (p.Pro375Ser) rs774016809
NM_023073.3(CPLANE1):c.1125A>G (p.Pro375=) rs61745362
NM_023073.3(CPLANE1):c.1173T>G (p.Ala391=) rs61733482
NM_023073.3(CPLANE1):c.1270C>T (p.Arg424Ter) rs755097302
NM_023073.3(CPLANE1):c.1411C>G (p.Leu471Val) rs139940282
NM_023073.3(CPLANE1):c.1456G>A (p.Asp486Asn) rs374411782
NM_023073.3(CPLANE1):c.1554A>T (p.Arg518Ser) rs886060583
NM_023073.3(CPLANE1):c.1680G>A (p.Glu560=) rs749473632
NM_023073.3(CPLANE1):c.1736C>T (p.Ala579Val) rs191239995
NM_023073.3(CPLANE1):c.1737G>A (p.Ala579=) rs13356183
NM_023073.3(CPLANE1):c.1755A>G (p.Ser585=) rs186970259
NM_023073.3(CPLANE1):c.1784T>G (p.Leu595Ter) rs530569572
NM_023073.3(CPLANE1):c.1809T>C (p.Thr603=) rs115435816
NM_023073.3(CPLANE1):c.1819delT (p.Tyr607Thrfs) rs777686211
NM_023073.3(CPLANE1):c.1839A>C (p.Lys613Asn) rs533310477
NM_023073.3(CPLANE1):c.1872C>T (p.Ser624=) rs886060582
NM_023073.3(CPLANE1):c.1877delG (p.Ser626Thrfs) rs1327245073
NM_023073.3(CPLANE1):c.1883G>A (p.Arg628Lys) rs74975451
NM_023073.3(CPLANE1):c.2185A>G (p.Ile729Val) rs1010091096
NM_023073.3(CPLANE1):c.2275C>T (p.Gln759Ter) rs863225158
NM_023073.3(CPLANE1):c.233G>T (p.Gly78Val) rs1554117507
NM_023073.3(CPLANE1):c.2353C>T (p.Arg785Ter) rs863225163
NM_023073.3(CPLANE1):c.2377C>T (p.Gln793Ter) rs776886962
NM_023073.3(CPLANE1):c.2422_2423delCT (p.Leu808Valfs) rs1242532564
NM_023073.3(CPLANE1):c.2428T>G (p.Cys810Gly) rs886060581
NM_023073.3(CPLANE1):c.2556dup (p.Ala853Serfs)
NM_023073.3(CPLANE1):c.2558C>A (p.Ala853Asp) rs886060580
NM_023073.3(CPLANE1):c.2611C>T (p.Arg871Cys) rs760906097
NM_023073.3(CPLANE1):c.2624C>T (p.Ser875Phe) rs794727154
NM_023073.3(CPLANE1):c.2709G>A (p.Trp903Ter) rs863225164
NM_023073.3(CPLANE1):c.2831G>A (p.Arg944His) rs863225165
NM_023073.3(CPLANE1):c.2855A>G (p.Asn952Ser)
NM_023073.3(CPLANE1):c.2923C>G (p.Gln975Glu)
NM_023073.3(CPLANE1):c.2923C>T (p.Gln975Ter) rs863225166
NM_023073.3(CPLANE1):c.2999G>T (p.Trp1000Leu) rs773362418
NM_023073.3(CPLANE1):c.3007G>T (p.Glu1003Ter) rs863225162
NM_023073.3(CPLANE1):c.3040C>G (p.Leu1014Val) rs969126655
NM_023073.3(CPLANE1):c.3090G>A (p.Thr1030=) rs768564404
NM_023073.3(CPLANE1):c.3130_3131insA (p.Arg1044Glnfs) rs863225161
NM_023073.3(CPLANE1):c.3150-1G>T rs606231258
NM_023073.3(CPLANE1):c.3240C>T (p.Ala1080=) rs28514632
NM_023073.3(CPLANE1):c.3290-2A>G rs606231260
NM_023073.3(CPLANE1):c.3380C>T (p.Ser1127Leu) rs375009168
NM_023073.3(CPLANE1):c.3407_3408delCT (p.Ser1136Cysfs)
NM_023073.3(CPLANE1):c.3407delC (p.Ser1136Leufs)
NM_023073.3(CPLANE1):c.3450C>T (p.Phe1150=) rs200449169
NM_023073.3(CPLANE1):c.3577C>T (p.Arg1193Cys) rs149170427
NM_023073.3(CPLANE1):c.3595C>T (p.Arg1199Trp) rs374075447
NM_023073.3(CPLANE1):c.3599C>T (p.Ala1200Val) rs141153181
NM_023073.3(CPLANE1):c.361T>C (p.Tyr121His) rs886060587
NM_023073.3(CPLANE1):c.3636_3637delAT (p.Leu1213Alafs) rs863225157
NM_023073.3(CPLANE1):c.3672+8A>G rs190206388
NM_023073.3(CPLANE1):c.3743G>A (p.Gly1248Asp) rs72736758
NM_023073.3(CPLANE1):c.378G>A (p.Gly126=) rs73750958
NM_023073.3(CPLANE1):c.3795T>A (p.Val1265=) rs74478954
NM_023073.3(CPLANE1):c.3828T>C (p.Leu1276=) rs145520487
NM_023073.3(CPLANE1):c.3859G>C (p.Asp1287His) rs606231261
NM_023073.3(CPLANE1):c.4006C>T (p.Arg1336Trp) rs367543061
NM_023073.3(CPLANE1):c.4034A>G (p.Gln1345Arg) rs869312898
NM_023073.3(CPLANE1):c.4095C>T (p.Phe1365=) rs750696838
NM_023073.3(CPLANE1):c.4132C>T (p.Pro1378Ser)
NM_023073.3(CPLANE1):c.4134T>C (p.Pro1378=) rs79935028
NM_023073.3(CPLANE1):c.4190-10_4190-9delTT rs111508546
NM_023073.3(CPLANE1):c.424G>A (p.Glu142Lys) rs756856188
NM_023073.3(CPLANE1):c.4306C>T (p.Pro1436Ser) rs183021118
NM_023073.3(CPLANE1):c.4310T>C (p.Ile1437Thr) rs6859950
NM_023073.3(CPLANE1):c.4313delA (p.Glu1439Lysfs) rs1554084360
NM_023073.3(CPLANE1):c.4379G>C (p.Ser1460Thr) rs886060579
NM_023073.3(CPLANE1):c.4403C>G (p.Ser1468Cys) rs150556877
NM_023073.3(CPLANE1):c.4517A>G (p.His1506Arg) rs141911199
NM_023073.3(CPLANE1):c.4643A>G (p.Asp1548Gly) rs759649053
NM_023073.3(CPLANE1):c.4698A>G (p.Leu1566=) rs143312971
NM_023073.3(CPLANE1):c.4719C>T (p.Asp1573=) rs143084362
NM_023073.3(CPLANE1):c.4765C>T (p.Leu1589Phe) rs751890710
NM_023073.3(CPLANE1):c.4804C>T (p.Arg1602Ter) rs367543063
NM_023073.3(CPLANE1):c.4890dup (p.Ser1631Ilefs) rs1554083251
NM_023073.3(CPLANE1):c.4892C>T (p.Ser1631Leu) rs748759724
NM_023073.3(CPLANE1):c.493delA (p.Ile165Tyrfs) rs606231259
NM_023073.3(CPLANE1):c.4954C>T (p.Leu1652=) rs141109938
NM_023073.3(CPLANE1):c.4986A>C (p.Gln1662His) rs547409263
NM_023073.3(CPLANE1):c.5054T>C (p.Ile1685Thr) rs750439635
NM_023073.3(CPLANE1):c.510delT (p.Leu171Serfs) rs779680371
NM_023073.3(CPLANE1):c.510dupT (p.Leu171Serfs) rs779680371
NM_023073.3(CPLANE1):c.5152A>G (p.Ile1718Val) rs886060578
NM_023073.3(CPLANE1):c.523A>G (p.Thr175Ala) rs886060586
NM_023073.3(CPLANE1):c.5311T>C (p.Tyr1771His) rs748355456
NM_023073.3(CPLANE1):c.5314A>G (p.Ser1772Gly) rs79377186
NM_023073.3(CPLANE1):c.5329G>A (p.Val1777Ile) rs142777778
NM_023073.3(CPLANE1):c.5343A>T (p.Thr1781=) rs73750949
NM_023073.3(CPLANE1):c.5348C>A (p.Ala1783Asp) rs200444162
NM_023073.3(CPLANE1):c.5381C>T (p.Pro1794Leu) rs75589774
NM_023073.3(CPLANE1):c.5421G>A (p.Lys1807=) rs149313666
NM_023073.3(CPLANE1):c.5440A>G (p.Thr1814Ala) rs760844546
NM_023073.3(CPLANE1):c.5512A>G (p.Thr1838Ala) rs76245173
NM_023073.3(CPLANE1):c.5570+5G>A
NM_023073.3(CPLANE1):c.5593A>C (p.Asn1865His) rs199524299
NM_023073.3(CPLANE1):c.570+2T>A
NM_023073.3(CPLANE1):c.5733T>G (p.Tyr1911Ter) rs770770257
NM_023073.3(CPLANE1):c.5738-2A>G rs565629362
NM_023073.3(CPLANE1):c.5738-6C>T rs148634159
NM_023073.3(CPLANE1):c.5900+7G>T rs78315844
NM_023073.3(CPLANE1):c.5901-3T>C rs10805625
NM_023073.3(CPLANE1):c.5928G>A (p.Gly1976=) rs34161326
NM_023073.3(CPLANE1):c.6051T>C (p.Ala2017=) rs61746147
NM_023073.3(CPLANE1):c.6098T>G (p.Phe2033Cys) rs10076911
NM_023073.3(CPLANE1):c.6125A>C (p.Glu2042Ala) rs766565364
NM_023073.3(CPLANE1):c.6158T>A (p.Phe2053Tyr) rs189493985
NM_023073.3(CPLANE1):c.6172C>G (p.Leu2058Val)
NM_023073.3(CPLANE1):c.6268G>A (p.Val2090Met)
NM_023073.3(CPLANE1):c.6269_6270delTG (p.Val2090Alafs) rs768675259
NM_023073.3(CPLANE1):c.626A>G (p.Lys209Arg) rs770630520
NM_023073.3(CPLANE1):c.6407del (p.Pro2136Hisfs) rs367543064
NM_023073.3(CPLANE1):c.6427A>G (p.Ile2143Val) rs6884652
NM_023073.3(CPLANE1):c.6443A>G (p.Asn2148Ser) rs150999024
NM_023073.3(CPLANE1):c.6456C>T (p.Asn2152=) rs186460995
NM_023073.3(CPLANE1):c.662T>C (p.Val221Ala) rs370118778
NM_023073.3(CPLANE1):c.6700C>T (p.Gln2234Ter)
NM_023073.3(CPLANE1):c.677+1G>C
NM_023073.3(CPLANE1):c.6905C>T (p.Thr2302Met) rs34737149
NM_023073.3(CPLANE1):c.6957A>G (p.Gln2319=) rs143147192
NM_023073.3(CPLANE1):c.7095A>G (p.Pro2365=) rs886060577
NM_023073.3(CPLANE1):c.7099A>G (p.Lys2367Glu) rs778278672
NM_023073.3(CPLANE1):c.709C>T (p.Gln237Ter)
NM_023073.3(CPLANE1):c.7190delC (p.Pro2397Glnfs) rs863225156
NM_023073.3(CPLANE1):c.7234-7C>G rs141575785
NM_023073.3(CPLANE1):c.7253T>C (p.Ile2418Thr)
NM_023073.3(CPLANE1):c.7298T>C (p.Leu2433Pro) rs372655878
NM_023073.3(CPLANE1):c.7331G>A (p.Gly2444Glu) rs751548147
NM_023073.3(CPLANE1):c.7360G>A (p.Glu2454Lys) rs867750018
NM_023073.3(CPLANE1):c.7400+1G>A rs367543062
NM_023073.3(CPLANE1):c.7417G>A (p.Glu2473Lys) rs886060576
NM_023073.3(CPLANE1):c.7438dupA (p.Arg2480Lysfs) rs886060575
NM_023073.3(CPLANE1):c.7477C>T (p.Arg2493Ter) rs139675596
NM_023073.3(CPLANE1):c.7478G>T (p.Arg2493Leu) rs183942272
NM_023073.3(CPLANE1):c.7588+1G>A
NM_023073.3(CPLANE1):c.7588+7A>G
NM_023073.3(CPLANE1):c.7588+8T>C rs377295986
NM_023073.3(CPLANE1):c.7596A>G (p.Leu2532=) rs201502145
NM_023073.3(CPLANE1):c.765A>C (p.Gly255=) rs117995360
NM_023073.3(CPLANE1):c.7775C>T (p.Pro2592Leu) rs16903518
NM_023073.3(CPLANE1):c.7778G>A (p.Trp2593Ter) rs863225159
NM_023073.3(CPLANE1):c.7817T>A (p.Leu2606Ter) rs749523755
NM_023073.3(CPLANE1):c.7829A>T (p.Glu2610Val)
NM_023073.3(CPLANE1):c.7860G>A (p.Gln2620=) rs750429337
NM_023073.3(CPLANE1):c.7866C>T (p.Ser2622=) rs141486731
NM_023073.3(CPLANE1):c.7901A>G (p.His2634Arg) rs373755833
NM_023073.3(CPLANE1):c.792T>C (p.Asp264=) rs886060585
NM_023073.3(CPLANE1):c.7930G>C (p.Val2644Leu) rs772274656
NM_023073.3(CPLANE1):c.7936_7937delCC (p.Pro2646Thrfs) rs1554068790
NM_023073.3(CPLANE1):c.7957+288G>A rs111294855
NM_023073.3(CPLANE1):c.7978C>T (p.Arg2660Ter) rs147416429
NM_023073.3(CPLANE1):c.7988_7989delGA (p.Gly2663Alafs) rs730882217
NM_023073.3(CPLANE1):c.8035C>T (p.Arg2679Trp) rs142792453
NM_023073.3(CPLANE1):c.81+20C>T rs6876576
NM_023073.3(CPLANE1):c.8124C>T (p.Asp2708=) rs114126795
NM_023073.3(CPLANE1):c.8125G>A (p.Glu2709Lys) rs200612080
NM_023073.3(CPLANE1):c.8167C>T (p.Gln2723Ter) rs863225152
NM_023073.3(CPLANE1):c.817A>C (p.Asn273His) rs863225167
NM_023073.3(CPLANE1):c.8182C>A (p.Pro2728Thr) rs77014998
NM_023073.3(CPLANE1):c.8212-15G>A rs74881219
NM_023073.3(CPLANE1):c.8263_8264insG (p.Thr2755Serfs) rs1554064102
NM_023073.3(CPLANE1):c.8263delA (p.Thr2755Hisfs)
NM_023073.3(CPLANE1):c.8263dupA (p.Thr2755Asnfs) rs775263897
NM_023073.3(CPLANE1):c.8279C>A (p.Thr2760Asn)
NM_023073.3(CPLANE1):c.8300-1G>C rs151279194
NM_023073.3(CPLANE1):c.833A>G (p.Lys278Arg)
NM_023073.3(CPLANE1):c.8352T>C (p.Thr2784=) rs760623510
NM_023073.3(CPLANE1):c.8377G>C (p.Glu2793Gln) rs886060574
NM_023073.3(CPLANE1):c.8471-1G>C
NM_023073.3(CPLANE1):c.8471-3delT rs34646696
NM_023073.3(CPLANE1):c.8501+8_8501+12delTCTTA rs763664569
NM_023073.3(CPLANE1):c.8502-3A>T rs58401892
NM_023073.3(CPLANE1):c.8508A>G (p.Ser2836=) rs886060573
NM_023073.3(CPLANE1):c.8512C>T (p.His2838Tyr) rs201404524
NM_023073.3(CPLANE1):c.8516C>T (p.Pro2839Leu) rs147426388
NM_023073.3(CPLANE1):c.8549A>G (p.Asp2850Gly) rs144427399
NM_023073.3(CPLANE1):c.8607A>G (p.Thr2869=) rs16903514
NM_023073.3(CPLANE1):c.8608G>T (p.Glu2870Ter) rs863225155
NM_023073.3(CPLANE1):c.8617A>G (p.Met2873Val) rs143626904
NM_023073.3(CPLANE1):c.8639A>G (p.His2880Arg)
NM_023073.3(CPLANE1):c.8668G>C (p.Asp2890His) rs761880579
NM_023073.3(CPLANE1):c.8696G>A (p.Trp2899Ter)
NM_023073.3(CPLANE1):c.8710C>T (p.Arg2904Ter) rs141507441
NM_023073.3(CPLANE1):c.8716G>T (p.Glu2906Ter) rs863225153
NM_023073.3(CPLANE1):c.8725delG (p.Ala2909Glnfs) rs770758833
NM_023073.3(CPLANE1):c.8760G>T (p.Gly2920=) rs370013757
NM_023073.3(CPLANE1):c.8785A>T (p.Arg2929Ter) rs1345413118
NM_023073.3(CPLANE1):c.8796+4A>C rs199810663
NM_023073.3(CPLANE1):c.8834delA (p.Lys2945Argfs) rs1554050342
NM_023073.3(CPLANE1):c.8854A>G (p.Arg2952Gly) rs116198390
NM_023073.3(CPLANE1):c.8855+1G>A rs863225154
NM_023073.3(CPLANE1):c.8855+1G>T rs863225154
NM_023073.3(CPLANE1):c.8931A>G (p.Ser2977=) rs141014620
NM_023073.3(CPLANE1):c.8976C>G (p.Pro2992=) rs16903511
NM_023073.3(CPLANE1):c.9058C>T (p.Arg3020Ter) rs374144275
NM_023073.3(CPLANE1):c.907_908delAA (p.Lys303Glufs)
NM_023073.3(CPLANE1):c.9090G>A (p.Pro3030=) rs371595122
NM_023073.3(CPLANE1):c.9101A>G (p.His3034Arg) rs547370426
NM_023073.3(CPLANE1):c.916G>A (p.Val306Met) rs776434510
NM_023073.3(CPLANE1):c.9184G>A (p.Gly3062Arg) rs7702892
NM_023073.3(CPLANE1):c.9362C>T (p.Thr3121Met) rs587783354
NM_023073.3(CPLANE1):c.9412C>G (p.Leu3138Val) rs886060572
NM_023073.3(CPLANE1):c.9417+7A>G rs369166609
NM_023073.3(CPLANE1):c.9471dupT (p.Val3158Cysfs) rs765432713
NM_023073.3(CPLANE1):c.94G>A (p.Val32Ile) rs73750959
NM_023073.3(CPLANE1):c.9526G>T (p.Ala3176Ser) rs1421414177
NM_023073.3(CPLANE1):c.959T>C (p.Ile320Thr) rs886060584
NM_023073.3(CPLANE1):c.968C>T (p.Thr323Met) rs373704405
NM_023073.3(CPLANE1):c.[2080A>G];[6968A>C]
NM_023073.3:c.4362delG
NM_023073.3:c.5413_5417delATTAT

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