ClinVar Miner

List of variants in gene CPLANE1 studied for Joubert syndrome 17

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Total variants: 79
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HGVS dbSNP
NM_023073.3(CPLANE1):c.1736C>T (p.Ala579Val) rs191239995
NM_023073.3(CPLANE1):c.1784T>G (p.Leu595Ter) rs530569572
NM_023073.3(CPLANE1):c.1819delT (p.Tyr607Thrfs) rs777686211
NM_023073.3(CPLANE1):c.1877delG (p.Ser626Thrfs) rs1327245073
NM_023073.3(CPLANE1):c.2275C>T (p.Gln759Ter) rs863225158
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.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.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.3130_3131insA (p.Arg1044Glnfs) rs863225161
NM_023073.3(CPLANE1):c.3380C>T (p.Ser1127Leu) rs375009168
NM_023073.3(CPLANE1):c.3599C>T (p.Ala1200Val) rs141153181
NM_023073.3(CPLANE1):c.3636_3637delAT (p.Leu1213Alafs) rs863225157
NM_023073.3(CPLANE1):c.3743G>A (p.Gly1248Asp) rs72736758
NM_023073.3(CPLANE1):c.3828T>C (p.Leu1276=) rs145520487
NM_023073.3(CPLANE1):c.4006C>T (p.Arg1336Trp) rs367543061
NM_023073.3(CPLANE1):c.4134T>C (p.Pro1378=) rs79935028
NM_023073.3(CPLANE1):c.424G>A (p.Glu142Lys) rs756856188
NM_023073.3(CPLANE1):c.4313delA (p.Glu1439Lysfs) rs1554084360
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.4804C>T (p.Arg1602Ter) rs367543063
NM_023073.3(CPLANE1):c.4890dup (p.Ser1631Ilefs) rs1554083251
NM_023073.3(CPLANE1):c.493delA (p.Ile165Tyrfs) rs606231259
NM_023073.3(CPLANE1):c.4986A>C (p.Gln1662His) rs547409263
NM_023073.3(CPLANE1):c.510delT (p.Leu171Serfs) rs779680371
NM_023073.3(CPLANE1):c.510dupT (p.Leu171Serfs) rs779680371
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.5733T>G (p.Tyr1911Ter) rs770770257
NM_023073.3(CPLANE1):c.5901-3T>C rs10805625
NM_023073.3(CPLANE1):c.6098T>G (p.Phe2033Cys) rs10076911
NM_023073.3(CPLANE1):c.6172C>G (p.Leu2058Val)
NM_023073.3(CPLANE1):c.6269_6270delTG (p.Val2090Alafs) rs768675259
NM_023073.3(CPLANE1):c.6407del (p.Pro2136Hisfs) rs367543064
NM_023073.3(CPLANE1):c.6700C>T (p.Gln2234Ter)
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.7190delC (p.Pro2397Glnfs) rs863225156
NM_023073.3(CPLANE1):c.7400+1G>A rs367543062
NM_023073.3(CPLANE1):c.7477C>T (p.Arg2493Ter) rs139675596
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.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.81+20C>T rs6876576
NM_023073.3(CPLANE1):c.8124C>T (p.Asp2708=) rs114126795
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.8263_8264insG (p.Thr2755Serfs) rs1554064102
NM_023073.3(CPLANE1):c.8263dupA (p.Thr2755Asnfs) rs775263897
NM_023073.3(CPLANE1):c.8300-1G>C rs151279194
NM_023073.3(CPLANE1):c.833A>G (p.Lys278Arg)
NM_023073.3(CPLANE1):c.8512C>T (p.His2838Tyr) rs201404524
NM_023073.3(CPLANE1):c.8608G>T (p.Glu2870Ter) rs863225155
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.8834delA (p.Lys2945Argfs) rs1554050342
NM_023073.3(CPLANE1):c.8855+1G>A rs863225154
NM_023073.3(CPLANE1):c.8855+1G>T rs863225154
NM_023073.3(CPLANE1):c.9058C>T (p.Arg3020Ter) rs374144275
NM_023073.3(CPLANE1):c.9362C>T (p.Thr3121Met) rs587783354
NM_023073.3(CPLANE1):c.9471dupT (p.Val3158Cysfs) rs765432713
NM_023073.3(CPLANE1):c.968C>T (p.Thr323Met) rs373704405
NM_023073.3:c.4362delG
NM_023073.3:c.5413_5417delATTAT

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