ClinVar Miner

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

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Total variants: 58
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HGVS dbSNP
NM_001384732.1(CPLANE1):c.1270C>T (p.Arg424Ter) rs755097302
NM_001384732.1(CPLANE1):c.1819del (p.Tyr607fs) rs777686211
NM_001384732.1(CPLANE1):c.1839A>C (p.Lys613Asn) rs533310477
NM_001384732.1(CPLANE1):c.2185A>G (p.Ile729Val) rs1010091096
NM_001384732.1(CPLANE1):c.233G>T (p.Gly78Val) rs1554117507
NM_001384732.1(CPLANE1):c.2556dup (p.Ala853fs) rs1561655920
NM_001384732.1(CPLANE1):c.2855A>G (p.Asn952Ser) rs554483416
NM_001384732.1(CPLANE1):c.3040C>G (p.Leu1014Val) rs969126655
NM_001384732.1(CPLANE1):c.3053dup (p.Val1019fs)
NM_001384732.1(CPLANE1):c.3381G>C (p.Ser1127=) rs566190241
NM_001384732.1(CPLANE1):c.3407_3408del (p.Ser1136fs) rs1228082731
NM_001384732.1(CPLANE1):c.3407del (p.Ser1136fs) rs1561584225
NM_001384732.1(CPLANE1):c.3577C>T (p.Arg1193Cys) rs149170427
NM_001384732.1(CPLANE1):c.3672+8A>G rs190206388
NM_001384732.1(CPLANE1):c.4095C>T (p.Phe1365=) rs750696838
NM_001384732.1(CPLANE1):c.4132C>T (p.Pro1378Ser) rs752467139
NM_001384732.1(CPLANE1):c.4403C>G (p.Ser1468Cys) rs150556877
NM_001384732.1(CPLANE1):c.4892C>T (p.Ser1631Leu) rs748759724
NM_001384732.1(CPLANE1):c.493del (p.Ile165fs) rs606231259
NM_001384732.1(CPLANE1):c.4953A>G (p.Val1651=) rs373122844
NM_001384732.1(CPLANE1):c.5337del (p.Ser1780fs)
NM_001384732.1(CPLANE1):c.5440A>G (p.Thr1814Ala) rs760844546
NM_001384732.1(CPLANE1):c.5570+5G>A rs1561516534
NM_001384732.1(CPLANE1):c.570+2T>A rs1321423759
NM_001384732.1(CPLANE1):c.5820+7C>T rs185534019
NM_001384732.1(CPLANE1):c.5876A>G (p.Glu1959Gly) rs1230715850
NM_001384732.1(CPLANE1):c.6158T>A (p.Phe2053Tyr) rs189493985
NM_001384732.1(CPLANE1):c.6268G>A (p.Val2090Met) rs1561482827
NM_001384732.1(CPLANE1):c.626A>G (p.Lys209Arg) rs770630520
NM_001384732.1(CPLANE1):c.6443A>G (p.Asn2148Ser) rs150999024
NM_001384732.1(CPLANE1):c.677+1G>C rs1414913269
NM_001384732.1(CPLANE1):c.6957A>G (p.Gln2319=) rs143147192
NM_001384732.1(CPLANE1):c.7400+1G>A rs367543062
NM_001384732.1(CPLANE1):c.7408A>G (p.Arg2470Gly) rs144391535
NM_001384732.1(CPLANE1):c.7477C>T (p.Arg2493Ter) rs139675596
NM_001384732.1(CPLANE1):c.7588+1G>A rs1561458987
NM_001384732.1(CPLANE1):c.7588+7A>G rs773662834
NM_001384732.1(CPLANE1):c.7871T>A (p.Leu2624Ter) rs749523755
NM_001384732.1(CPLANE1):c.7883A>T (p.Glu2628Val) rs200930248
NM_001384732.1(CPLANE1):c.8287G>A (p.Glu2763Lys) rs200612080
NM_001384732.1(CPLANE1):c.8425_8426insG (p.Thr2809fs) rs1554064102
NM_001384732.1(CPLANE1):c.8425del (p.Thr2809fs) rs775263897
NM_001384732.1(CPLANE1):c.8633-1G>C rs1561376123
NM_001384732.1(CPLANE1):c.8678C>T (p.Pro2893Leu) rs147426388
NM_001384732.1(CPLANE1):c.8801A>G (p.His2934Arg) rs1014698599
NM_001384732.1(CPLANE1):c.8894A>G (p.Tyr2965Cys) rs374005945
NM_001384732.1(CPLANE1):c.8922G>T (p.Gly2974=) rs370013757
NM_001384732.1(CPLANE1):c.8947A>T (p.Arg2983Ter) rs1345413118
NM_001384732.1(CPLANE1):c.9016A>G (p.Arg3006Gly) rs116198390
NM_001384732.1(CPLANE1):c.9044G>A (p.Arg3015His) rs771622959
NM_001384732.1(CPLANE1):c.9063C>T (p.Tyr3021=) rs377142277
NM_001384732.1(CPLANE1):c.907_908del (p.Lys303fs) rs1187142382
NM_001384732.1(CPLANE1):c.9169T>G (p.Cys3057Gly) rs760027584
NM_001384732.1(CPLANE1):c.916G>A (p.Val306Met) rs776434510
NM_001384732.1(CPLANE1):c.9220C>T (p.Arg3074Ter) rs374144275
NM_001384732.1(CPLANE1):c.9579+7A>G rs369166609
NM_001384732.1(CPLANE1):c.9688G>T (p.Ala3230Ser) rs1421414177
NM_023073.3(CPLANE1):c.[2080A>G];[6968A>C]

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