ClinVar Miner

List of variants studied for Joubert syndrome 21

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ClinVar version:
Total variants: 155
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HGVS dbSNP
NC_000008.10:g.(?_68024187)_(68107848_?)dup
NC_000008.11:g.(?_67010715)_(67064496_?)dup
NC_000008.11:g.(?_67111972)_(67218138_?)dup
NC_000008.11:g.(?_67149783)_(67177726_?)dup
NC_000008.11:g.(?_67193464)_(67193602_?)del
NM_001291339.1(CSPP1):c.1209_1212del (p.Glu405fs) rs587777145
NM_001291339.1(CSPP1):c.1325_1326GA[2] (p.Lys444fs)
NM_001291339.1(CSPP1):c.1398_1401AGAA[2] (p.Lys469fs) rs761382780
NM_001291339.1(CSPP1):c.1406_1412AGAAGAA[1] (p.Glu472fs) rs863225191
NM_001291339.1(CSPP1):c.1406_1412AGAAGAA[3] (p.Glu474fs) rs863225191
NM_001382391.1(CSPP1):c.1043C>A (p.Ser348Tyr)
NM_001382391.1(CSPP1):c.1093+3A>G
NM_001382391.1(CSPP1):c.113C>T (p.Ala38Val)
NM_001382391.1(CSPP1):c.1187G>A (p.Arg396Gln)
NM_001382391.1(CSPP1):c.1325A>G (p.His442Arg)
NM_001382391.1(CSPP1):c.1359A>C (p.Arg453Ser)
NM_001382391.1(CSPP1):c.1501G>A (p.Ala501Thr)
NM_001382391.1(CSPP1):c.15G>A (p.Leu5=)
NM_001382391.1(CSPP1):c.1639G>A (p.Val547Ile)
NM_001382391.1(CSPP1):c.1645C>G (p.Pro549Ala)
NM_001382391.1(CSPP1):c.1831C>T (p.Arg611Trp)
NM_001382391.1(CSPP1):c.1906A>G (p.Arg636Gly)
NM_001382391.1(CSPP1):c.191G>A (p.Gly64Asp)
NM_001382391.1(CSPP1):c.1929A>T (p.Lys643Asn)
NM_001382391.1(CSPP1):c.19G>T (p.Glu7Ter)
NM_001382391.1(CSPP1):c.2059G>T (p.Val687Leu)
NM_001382391.1(CSPP1):c.2238C>A (p.Phe746Leu)
NM_001382391.1(CSPP1):c.2282G>A (p.Arg761Lys)
NM_001382391.1(CSPP1):c.254A>G (p.His85Arg)
NM_001382391.1(CSPP1):c.2800A>G (p.Met934Val)
NM_001382391.1(CSPP1):c.2981G>A (p.Arg994Gln)
NM_001382391.1(CSPP1):c.3029C>G (p.Thr1010Ser)
NM_001382391.1(CSPP1):c.3050C>T (p.Ala1017Val)
NM_001382391.1(CSPP1):c.3156+6C>T
NM_001382391.1(CSPP1):c.3331-2A>G
NM_001382391.1(CSPP1):c.3603G>C (p.Gln1201His)
NM_001382391.1(CSPP1):c.52G>A (p.Glu18Lys)
NM_001382391.1(CSPP1):c.58A>C (p.Lys20Gln)
NM_001382391.1(CSPP1):c.757G>C (p.Ala253Pro)
NM_001382391.1(CSPP1):c.769G>A (p.Asp257Asn)
NM_001382391.1(CSPP1):c.799C>T (p.Arg267Cys)
NM_001382391.1(CSPP1):c.821A>G (p.His274Arg)
NM_001382391.1(CSPP1):c.849T>G (p.Ser283Arg)
NM_001382391.1(CSPP1):c.89T>C (p.Met30Thr)
NM_001382391.1(CSPP1):c.940C>T (p.Arg314Ter)
NM_001382391.1(CSPP1):c.941G>A (p.Arg314Gln)
NM_024790.6(CSPP1):c.1021A>G (p.Ile341Val)
NM_024790.6(CSPP1):c.1088A>G (p.Asp363Gly) rs146127619
NM_024790.6(CSPP1):c.1132C>T (p.Arg378Ter) rs374703898
NM_024790.6(CSPP1):c.113C>T (p.Ala38Val) rs553988238
NM_024790.6(CSPP1):c.1168C>T (p.Leu390=) rs539302524
NM_024790.6(CSPP1):c.1376C>G (p.Ser459Cys) rs146431326
NM_024790.6(CSPP1):c.1387G>C (p.Val463Leu)
NM_024790.6(CSPP1):c.1482-3C>T
NM_024790.6(CSPP1):c.1506C>T (p.Pro502=) rs199923715
NM_024790.6(CSPP1):c.1525A>G (p.Thr509Ala)
NM_024790.6(CSPP1):c.1534C>T (p.Arg512Ter)
NM_024790.6(CSPP1):c.1540C>T (p.Pro514Ser)
NM_024790.6(CSPP1):c.1541C>T (p.Pro514Leu)
NM_024790.6(CSPP1):c.154T>C (p.Leu52=) rs150924296
NM_024790.6(CSPP1):c.159C>T (p.Ala53=) rs370003497
NM_024790.6(CSPP1):c.1628A>C (p.Gln543Pro)
NM_024790.6(CSPP1):c.1636G>A (p.Ala546Thr)
NM_024790.6(CSPP1):c.1660C>A (p.His554Asn) rs201417325
NM_024790.6(CSPP1):c.1678G>A (p.Val560Ile) rs199608505
NM_024790.6(CSPP1):c.167_168del (p.Lys56fs) rs766020802
NM_024790.6(CSPP1):c.1682+1G>T rs863225193
NM_024790.6(CSPP1):c.1783C>G (p.Gln595Glu) rs73693125
NM_024790.6(CSPP1):c.1856A>G (p.Lys619Arg)
NM_024790.6(CSPP1):c.189A>T (p.Pro63=) rs1271272185
NM_024790.6(CSPP1):c.1931C>T (p.Pro644Leu) rs376210928
NM_024790.6(CSPP1):c.1961-2A>G
NM_024790.6(CSPP1):c.1962T>C (p.Thr654=) rs114177619
NM_024790.6(CSPP1):c.1968G>C (p.Leu656Phe) rs374318063
NM_024790.6(CSPP1):c.1972A>G (p.Arg658Gly) rs199996939
NM_024790.6(CSPP1):c.2065G>T (p.Ala689Ser)
NM_024790.6(CSPP1):c.208-3C>T
NM_024790.6(CSPP1):c.2089G>T (p.Glu697Ter)
NM_024790.6(CSPP1):c.2107A>G (p.Ser703Gly) rs201316149
NM_024790.6(CSPP1):c.212A>G (p.Lys71Arg) rs200158932
NM_024790.6(CSPP1):c.2146C>G (p.Arg716Gly) rs778822396
NM_024790.6(CSPP1):c.216G>T (p.Leu72Phe)
NM_024790.6(CSPP1):c.2205C>A (p.Tyr735Ter) rs1402669959
NM_024790.6(CSPP1):c.2219G>A (p.Arg740His)
NM_024790.6(CSPP1):c.2244_2245del (p.Glu750fs) rs587777139
NM_024790.6(CSPP1):c.2253A>G (p.Glu751=) rs199962946
NM_024790.6(CSPP1):c.2260C>T (p.Arg754Ter) rs771203308
NM_024790.6(CSPP1):c.2279C>A (p.Ala760Glu) rs376549634
NM_024790.6(CSPP1):c.2280del (p.Glu761fs) rs587777140
NM_024790.6(CSPP1):c.2320C>T (p.Arg774Ter) rs587777138
NM_024790.6(CSPP1):c.2366_2367del
NM_024790.6(CSPP1):c.2377-8_2377-4del rs528357182
NM_024790.6(CSPP1):c.2512dup (p.Glu838fs) rs1554604482
NM_024790.6(CSPP1):c.2525del (p.His842fs) rs1563720581
NM_024790.6(CSPP1):c.2527_2528del (p.Met843fs) rs587777143
NM_024790.6(CSPP1):c.256A>G (p.Met86Val)
NM_024790.6(CSPP1):c.2575A>C (p.Ser859Arg) rs201259375
NM_024790.6(CSPP1):c.2579A>T (p.Lys860Ile)
NM_024790.6(CSPP1):c.2657C>T (p.Pro886Leu) rs755021253
NM_024790.6(CSPP1):c.2660C>G (p.Pro887Arg)
NM_024790.6(CSPP1):c.2686C>T (p.Arg896Cys)
NM_024790.6(CSPP1):c.2708del (p.Asn903fs) rs863225190
NM_024790.6(CSPP1):c.2720A>G (p.Glu907Gly) rs1586651470
NM_024790.6(CSPP1):c.2736A>C (p.Arg912Ser)
NM_024790.6(CSPP1):c.2747G>A (p.Arg916His)
NM_024790.6(CSPP1):c.2758A>G (p.Arg920Gly)
NM_024790.6(CSPP1):c.2773C>T (p.Arg925Ter) rs537456518
NM_024790.6(CSPP1):c.2798A>G (p.Asp933Gly) rs1282726257
NM_024790.6(CSPP1):c.2814-9_2953+11del rs1554614893
NM_024790.6(CSPP1):c.2815A>T (p.Lys939Ter) rs1380418532
NM_024790.6(CSPP1):c.2953+1G>A rs587777142
NM_024790.6(CSPP1):c.2953+1G>T rs587777142
NM_024790.6(CSPP1):c.2953+5G>A rs1057524684
NM_024790.6(CSPP1):c.2972A>C (p.Asp991Ala)
NM_024790.6(CSPP1):c.2996C>T (p.Pro999Leu)
NM_024790.6(CSPP1):c.3091A>G (p.Lys1031Glu)
NM_024790.6(CSPP1):c.3094G>A (p.Val1032Ile)
NM_024790.6(CSPP1):c.30A>G (p.Val10=) rs181470846
NM_024790.6(CSPP1):c.3123A>G (p.Lys1041=) rs76567936
NM_024790.6(CSPP1):c.3142C>T (p.Pro1048Ser)
NM_024790.6(CSPP1):c.3150T>C (p.Asp1050=) rs10112748
NM_024790.6(CSPP1):c.3173A>G (p.Asn1058Ser)
NM_024790.6(CSPP1):c.3205+1G>A rs773954226
NM_024790.6(CSPP1):c.3212dup (p.Tyr1071Ter) rs587777141
NM_024790.6(CSPP1):c.3260C>T (p.Ser1087Leu)
NM_024790.6(CSPP1):c.3270C>T (p.Pro1090=) rs201008264
NM_024790.6(CSPP1):c.3281A>G (p.Glu1094Gly) rs201629827
NM_024790.6(CSPP1):c.3298T>C (p.Trp1100Arg) rs1808140
NM_024790.6(CSPP1):c.3389T>G (p.Leu1130Arg) rs546683385
NM_024790.6(CSPP1):c.3390T>G (p.Leu1130=) rs376215036
NM_024790.6(CSPP1):c.3437A>G (p.Asn1146Ser)
NM_024790.6(CSPP1):c.3478C>T (p.Pro1160Ser) rs200161440
NM_024790.6(CSPP1):c.3494_3497dup (p.His1166fs) rs776145236
NM_024790.6(CSPP1):c.3563C>T (p.Thr1188Met) rs201142840
NM_024790.6(CSPP1):c.3623C>G (p.Pro1208Arg)
NM_024790.6(CSPP1):c.363_364del (p.His121fs) rs1554562278
NM_024790.6(CSPP1):c.3640C>G (p.Gln1214Glu)
NM_024790.6(CSPP1):c.382C>T (p.Arg128Trp)
NM_024790.6(CSPP1):c.457del (p.Arg153fs) rs863225192
NM_024790.6(CSPP1):c.475A>G (p.Ser159Gly) rs1554569071
NM_024790.6(CSPP1):c.50A>G (p.Asp17Gly)
NM_024790.6(CSPP1):c.536C>A (p.Pro179His)
NM_024790.6(CSPP1):c.538A>G (p.Ile180Val) rs188917565
NM_024790.6(CSPP1):c.652C>T (p.Gln218Ter) rs587777146
NM_024790.6(CSPP1):c.658C>T (p.Arg220Ter) rs375113643
NM_024790.6(CSPP1):c.659G>T (p.Arg220Leu) rs193231165
NM_024790.6(CSPP1):c.677A>G (p.Tyr226Cys)
NM_024790.6(CSPP1):c.800G>A (p.Arg267Lys)
NM_024790.6(CSPP1):c.830T>A (p.Val277Asp)
NM_024790.6(CSPP1):c.841C>T (p.Arg281Trp) rs756423026
NM_024790.6(CSPP1):c.842G>A (p.Arg281Gln) rs201609022
NM_024790.6(CSPP1):c.946G>A (p.Asp316Asn)
NM_024790.6(CSPP1):c.950+1G>C rs863225194
NM_024790.6(CSPP1):c.951-9G>A rs199910808
NM_024790.6(CSPP1):c.992A>G (p.His331Arg) rs141389465

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