ClinVar Miner

List of variants in gene CPLANE1 studied for Orofaciodigital syndrome 6; Joubert syndrome 17

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Total variants: 87
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HGVS dbSNP
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.1736C>T (p.Ala579Val) rs191239995
NM_023073.3(CPLANE1):c.1737G>A (p.Ala579=) rs13356183
NM_023073.3(CPLANE1):c.1809T>C (p.Thr603=) rs115435816
NM_023073.3(CPLANE1):c.1819del (p.Tyr607fs) rs777686211
NM_023073.3(CPLANE1):c.1839A>C (p.Lys613Asn) rs533310477
NM_023073.3(CPLANE1):c.2185A>G (p.Ile729Val) rs1010091096
NM_023073.3(CPLANE1):c.233G>T (p.Gly78Val) rs1554117507
NM_023073.3(CPLANE1):c.2556dup (p.Ala853fs) rs1561655920
NM_023073.3(CPLANE1):c.2855A>G (p.Asn952Ser)
NM_023073.3(CPLANE1):c.2923C>G (p.Gln975Glu)
NM_023073.3(CPLANE1):c.3040C>G (p.Leu1014Val) rs969126655
NM_023073.3(CPLANE1):c.3240C>T (p.Ala1080=) rs28514632
NM_023073.3(CPLANE1):c.3405_3406CT[1] (p.Ser1136fs) rs1228082731
NM_023073.3(CPLANE1):c.3407del (p.Ser1136fs) rs1561584225
NM_023073.3(CPLANE1):c.3577C>T (p.Arg1193Cys) rs149170427
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.4095C>T (p.Phe1365=) rs750696838
NM_023073.3(CPLANE1):c.4132C>T (p.Pro1378Ser)
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.4310T>C (p.Ile1437Thr) rs6859950
NM_023073.3(CPLANE1):c.4517A>G (p.His1506Arg) rs141911199
NM_023073.3(CPLANE1):c.4698A>G (p.Leu1566=) rs143312971
NM_023073.3(CPLANE1):c.4892C>T (p.Ser1631Leu) rs748759724
NM_023073.3(CPLANE1):c.493del (p.Ile165fs) rs606231259
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.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 rs1561516534
NM_023073.3(CPLANE1):c.570+2T>A rs1321423759
NM_023073.3(CPLANE1):c.5738-6C>T rs148634159
NM_023073.3(CPLANE1):c.5900+7G>T rs78315844
NM_023073.3(CPLANE1):c.6051T>C (p.Ala2017=) rs61746147
NM_023073.3(CPLANE1):c.6158T>A (p.Phe2053Tyr) rs189493985
NM_023073.3(CPLANE1):c.6268G>A (p.Val2090Met) rs1561482827
NM_023073.3(CPLANE1):c.626A>G (p.Lys209Arg) rs770630520
NM_023073.3(CPLANE1):c.6427A>G (p.Ile2143Val) rs6884652
NM_023073.3(CPLANE1):c.6700C>T (p.Gln2234Ter) rs1381740657
NM_023073.3(CPLANE1):c.677+1G>C rs1414913269
NM_023073.3(CPLANE1):c.6957A>G (p.Gln2319=) rs143147192
NM_023073.3(CPLANE1):c.709C>T (p.Gln237Ter)
NM_023073.3(CPLANE1):c.7234-7C>G rs141575785
NM_023073.3(CPLANE1):c.7253T>C (p.Ile2418Thr)
NM_023073.3(CPLANE1):c.7400+1G>A rs367543062
NM_023073.3(CPLANE1):c.7477C>T (p.Arg2493Ter) rs139675596
NM_023073.3(CPLANE1):c.7588+1G>A rs1561458987
NM_023073.3(CPLANE1):c.7588+7A>G
NM_023073.3(CPLANE1):c.7775C>T (p.Pro2592Leu) rs16903518
NM_023073.3(CPLANE1):c.7817T>A (p.Leu2606Ter) rs749523755
NM_023073.3(CPLANE1):c.7829A>T (p.Glu2610Val)
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.8182C>A (p.Pro2728Thr) rs77014998
NM_023073.3(CPLANE1):c.8263_8264insG (p.Thr2755fs) rs1554064102
NM_023073.3(CPLANE1):c.8263del (p.Thr2755fs) rs775263897
NM_023073.3(CPLANE1):c.8279C>A (p.Thr2760Asn)
NM_023073.3(CPLANE1):c.8471-1G>C rs1561376123
NM_023073.3(CPLANE1):c.8502-3A>T rs58401892
NM_023073.3(CPLANE1):c.8516C>T (p.Pro2839Leu) rs147426388
NM_023073.3(CPLANE1):c.8607A>G (p.Thr2869=) rs16903514
NM_023073.3(CPLANE1):c.8617A>G (p.Met2873Val) rs143626904
NM_023073.3(CPLANE1):c.8639A>G (p.His2880Arg)
NM_023073.3(CPLANE1):c.8732A>G (p.Tyr2911Cys)
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.8854A>G (p.Arg2952Gly) rs116198390
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.9007T>G (p.Cys3003Gly)
NM_023073.3(CPLANE1):c.9058C>T (p.Arg3020Ter) rs374144275
NM_023073.3(CPLANE1):c.907_908del (p.Lys303fs) rs1187142382
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.9417+7A>G rs369166609
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.[2080A>G];[6968A>C]

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