ClinVar Miner

List of variants studied for Joubert syndrome by Baylor Genetics

Included ClinVar conditions (87):
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ClinVar version:
Total variants: 160
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HGVS dbSNP gnomAD frequency
NM_019892.6(INPP5E):c.623C>T (p.Thr208Ile) rs143107549 0.00177
NM_006346.4(PIBF1):c.1793T>G (p.Leu598Arg) rs143644781 0.00172
NM_001134831.2(AHI1):c.986G>T (p.Arg329Leu) rs139944375 0.00111
NM_001128178.3(NPHP1):c.953C>T (p.Thr318Ile) rs140469160 0.00088
NM_001384732.1(CPLANE1):c.8462-1G>C rs151279194 0.00060
NM_001378615.1(CC2D2A):c.3046G>A (p.Glu1016Lys) rs373960465 0.00053
NM_001384732.1(CPLANE1):c.4460G>A (p.Ser1487Asn) rs138157520 0.00053
NM_001384732.1(CPLANE1):c.6328A>G (p.Asn2110Asp) rs139528477 0.00053
NM_001375405.1(CEP120):c.1119G>C (p.Lys373Asn) rs201571160 0.00047
NM_001382391.1(CSPP1):c.1987A>G (p.Arg663Gly) rs199996939 0.00034
NM_019892.6(INPP5E):c.1360G>A (p.Asp454Asn) rs138150684 0.00033
NM_014704.4(CEP104):c.2282G>A (p.Ser761Asn) rs537512159 0.00029
NM_001128178.3(NPHP1):c.771+169G>T rs150520157 0.00027
NM_001378615.1(CC2D2A):c.4852C>T (p.Arg1618Cys) rs201219078 0.00023
NM_001378615.1(CC2D2A):c.2039G>A (p.Arg680His) rs200236654 0.00021
NM_001044385.3(TMEM237):c.287C>T (p.Ser96Phe) rs376578633 0.00020
NM_001384732.1(CPLANE1):c.1096C>T (p.Pro366Ser) rs376489487 0.00016
NM_001128178.3(NPHP1):c.859G>A (p.Gly287Arg) rs121907899 0.00013
NM_001378615.1(CC2D2A):c.3055C>T (p.Arg1019Ter) rs370880399 0.00011
NM_001378615.1(CC2D2A):c.1837G>A (p.Glu613Lys) rs201439617 0.00010
NM_001077418.3(TMEM231):c.373C>G (p.Pro125Ala) rs1442638461 0.00009
NM_001384732.1(CPLANE1):c.6512G>A (p.Arg2171Gln) rs377742483 0.00009
NM_001329943.3(KIAA0586):c.1254-1G>C rs757350052 0.00008
NM_001375405.1(CEP120):c.612+5G>A rs762000520 0.00008
NM_001382391.1(CSPP1):c.3109G>A (p.Val1037Ile) rs200546493 0.00007
NM_001382391.1(CSPP1):c.2804A>G (p.Asp935Gly) rs374765060 0.00006
NM_001384732.1(CPLANE1):c.9044G>A (p.Arg3015His) rs771622959 0.00006
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter) rs137852832 0.00006
NM_001044385.3(TMEM237):c.42+1G>A rs1378726802 0.00005
NM_016169.4(SUFU):c.43C>A (p.Pro15Thr) rs761921681 0.00005
NM_019892.6(INPP5E):c.746C>T (p.Ser249Phe) rs550485638 0.00005
NM_001382391.1(CSPP1):c.132dup (p.Lys45Ter) rs770296270 0.00004
NM_001382391.1(CSPP1):c.3275C>T (p.Ser1092Leu) rs768603321 0.00004
NM_001384732.1(CPLANE1):c.1270C>T (p.Arg424Ter) rs755097302 0.00004
NM_001384732.1(CPLANE1):c.2645A>G (p.Tyr882Cys) rs1012462823 0.00004
NM_001384732.1(CPLANE1):c.9046C>T (p.Arg3016Ter) rs150242262 0.00004
NM_019892.6(INPP5E):c.510C>G (p.Asn170Lys) rs778210239 0.00004
NM_001384732.1(CPLANE1):c.1745T>C (p.Ile582Thr) rs1260722151 0.00003
NM_025114.4(CEP290):c.6752C>G (p.Ala2251Gly) rs758864226 0.00003
NM_001128178.3(NPHP1):c.1588C>T (p.Arg530Ter) rs547352656 0.00002
NM_001128178.3(NPHP1):c.729-2A>G rs773781058 0.00002
NM_001128178.3(NPHP1):c.871C>T (p.Arg291Ter) rs765263671 0.00002
NM_001329943.3(KIAA0586):c.768G>C (p.Arg256Ser) rs757161449 0.00002
NM_001382391.1(CSPP1):c.3292C>T (p.Arg1098Trp) rs759630451 0.00002
NM_001384732.1(CPLANE1):c.5557C>T (p.Gln1853Ter) rs766699868 0.00002
NM_001384732.1(CPLANE1):c.8140C>T (p.Arg2714Ter) rs147416429 0.00002
NM_003611.3(OFD1):c.3G>A (p.Met1Ile) rs778840618 0.00002
NM_001082538.3(TCTN1):c.26_29dup (p.Val11fs) rs1275375836 0.00001
NM_001128178.3(NPHP1):c.1270-1G>A rs376492641 0.00001
NM_001128178.3(NPHP1):c.143+1G>C rs745806504 0.00001
NM_001128178.3(NPHP1):c.1716+1G>T rs1233478832 0.00001
NM_001128178.3(NPHP1):c.1886G>A (p.Trp629Ter) rs1311042980 0.00001
NM_001128178.3(NPHP1):c.329+1G>A rs376974221 0.00001
NM_001128178.3(NPHP1):c.643G>T (p.Glu215Ter) rs753517219 0.00001
NM_001134831.2(AHI1):c.362A>G (p.Lys121Arg) rs140836078 0.00001
NM_001173990.3(TMEM216):c.191del (p.Leu64fs) rs1858737558 0.00001
NM_001173990.3(TMEM216):c.217C>T (p.Arg73Cys) rs779526456 0.00001
NM_001352754.2(ARMC9):c.100G>T (p.Glu34Ter) rs1330612935 0.00001
NM_001352754.2(ARMC9):c.1213C>T (p.Arg405Cys) rs755476651 0.00001
NM_001375405.1(CEP120):c.2462A>G (p.Asn821Ser) rs765442218 0.00001
NM_001384732.1(CPLANE1):c.1546G>A (p.Glu516Lys) rs772553650 0.00001
NM_001384732.1(CPLANE1):c.2413G>A (p.Val805Ile) rs1490492363 0.00001
NM_001384732.1(CPLANE1):c.5876A>G (p.Glu1959Gly) rs1230715850 0.00001
NM_001384732.1(CPLANE1):c.977G>A (p.Ser326Asn) rs1229752578 0.00001
NM_006346.4(PIBF1):c.2113C>A (p.Leu705Ile) rs758859825 0.00001
NM_018718.3(CEP41):c.1004G>A (p.Arg335Lys) rs782672149 0.00001
NM_018718.3(CEP41):c.1087A>G (p.Ser363Gly) rs201504407 0.00001
NM_024809.5(TCTN2):c.-15C>T rs575728856 0.00001
NM_025114.4(CEP290):c.4705-1G>T rs777464278 0.00001
NM_153704.6(TMEM67):c.1714G>A (p.Ala572Thr) rs1281778614 0.00001
NM_153704.6(TMEM67):c.1769T>C (p.Phe590Ser) rs267607115 0.00001
NM_001044385.3(TMEM237):c.869+1G>A rs730882231
NM_001077418.3(TMEM231):c.140-33C>G rs901311435
NM_001077418.3(TMEM231):c.248G>A (p.Trp83Ter) rs2080804101
NM_001077418.3(TMEM231):c.377T>C (p.Leu126Pro) rs1348700844
NM_001082538.3(TCTN1):c.1279G>A (p.Val427Ile) rs560599144
NM_001082538.3(TCTN1):c.342-2A>G rs730882221
NM_001128178.3(NPHP1):c.1064_1067del (p.Cys355fs)
NM_001128178.3(NPHP1):c.1083+1G>A
NM_001128178.3(NPHP1):c.1084-2A>C
NM_001128178.3(NPHP1):c.1157del (p.Gln386fs)
NM_001128178.3(NPHP1):c.1190del (p.Gly397fs)
NM_001128178.3(NPHP1):c.1270-2A>G
NM_001128178.3(NPHP1):c.1271C>G (p.Ser424Ter)
NM_001128178.3(NPHP1):c.127C>T (p.Gln43Ter)
NM_001128178.3(NPHP1):c.1305G>A (p.Trp435Ter)
NM_001128178.3(NPHP1):c.1323del (p.Phe441fs)
NM_001128178.3(NPHP1):c.1352+2T>G
NM_001128178.3(NPHP1):c.1379dup (p.Thr461fs) rs2104483923
NM_001128178.3(NPHP1):c.139C>T (p.Gln47Ter)
NM_001128178.3(NPHP1):c.141_143+40del
NM_001128178.3(NPHP1):c.1431_1432insTACCA (p.His478fs)
NM_001128178.3(NPHP1):c.144-1G>A
NM_001128178.3(NPHP1):c.151C>T (p.Gln51Ter)
NM_001128178.3(NPHP1):c.1551del (p.Ile517fs) rs1017750255
NM_001128178.3(NPHP1):c.1643-1G>C
NM_001128178.3(NPHP1):c.1643-2A>G
NM_001128178.3(NPHP1):c.1708G>A (p.Ala570Thr) rs372893275
NM_001128178.3(NPHP1):c.1717-1dup
NM_001128178.3(NPHP1):c.1724G>A (p.Trp575Ter)
NM_001128178.3(NPHP1):c.1767_1770del (p.Asp589fs)
NM_001128178.3(NPHP1):c.1897_1906del (p.Thr633fs)
NM_001128178.3(NPHP1):c.1933G>A (p.Ala645Thr) rs201077898
NM_001128178.3(NPHP1):c.483del (p.Asp162fs) rs1410236296
NM_001128178.3(NPHP1):c.555del (p.Lys185fs) rs766524637
NM_001128178.3(NPHP1):c.555dup (p.Pro186fs) rs766524637
NM_001128178.3(NPHP1):c.625-2A>G
NM_001128178.3(NPHP1):c.69+1G>T
NM_001128178.3(NPHP1):c.69+1del
NM_001128178.3(NPHP1):c.724C>T (p.Gln242Ter)
NM_001128178.3(NPHP1):c.738_739del (p.His247fs)
NM_001128178.3(NPHP1):c.771+124C>T
NM_001128178.3(NPHP1):c.771+58C>T
NM_001128178.3(NPHP1):c.842C>G (p.Ser281Ter)
NM_001128178.3(NPHP1):c.882C>A (p.Tyr294Ter)
NM_001128178.3(NPHP1):c.935G>A (p.Trp312Ter)
NM_001128178.3(NPHP1):c.958del (p.Arg320fs)
NM_001134831.2(AHI1):c.1621G>T (p.Asp541Tyr) rs1787553528
NM_001134831.2(AHI1):c.2361G>A (p.Trp787Ter) rs863225146
NM_001134831.2(AHI1):c.3140del (p.Asn1047fs)
NM_001173990.3(TMEM216):c.112G>T (p.Glu38Ter)
NM_001173990.3(TMEM216):c.218G>A (p.Arg73His) rs201108965
NM_001173990.3(TMEM216):c.218G>T (p.Arg73Leu) rs201108965
NM_001173990.3(TMEM216):c.222_224delinsA (p.Phe76fs)
NM_001173990.3(TMEM216):c.222_229+3delinsTTTTTTTGTT
NM_001173990.3(TMEM216):c.229+1G>A rs2135191306
NM_001173990.3(TMEM216):c.229+1G>C
NM_001173990.3(TMEM216):c.253C>T (p.Arg85Ter) rs11230683
NM_001173990.3(TMEM216):c.302_303insCATT (p.Met101fs)
NM_001173990.3(TMEM216):c.34+1G>A
NM_001173990.3(TMEM216):c.35-13_36del rs1057520085
NM_001173990.3(TMEM216):c.67del (p.Leu23fs) rs1565088283
NM_001173990.3(TMEM216):c.86G>A (p.Trp29Ter)
NM_001174150.2(ARL13B):c.968C>T (p.Ala323Val) rs2076893818
NM_001308120.2(TOGARAM1):c.2921G>T (p.Arg974Met)
NM_001329943.3(KIAA0586):c.1277A>G (p.Glu426Gly) rs867768844
NM_001329943.3(KIAA0586):c.2336C>A (p.Ser779Tyr) rs2040884061
NM_001329943.3(KIAA0586):c.3793dup (p.Ile1265fs)
NM_001329943.3(KIAA0586):c.4283A>G (p.Asn1428Ser) rs2044174256
NM_001375405.1(CEP120):c.1062G>T (p.Gln354His) rs775393475
NM_001375405.1(CEP120):c.2044G>T (p.Ala682Ser)
NM_001382391.1(CSPP1):c.2259_2260del (p.Glu755fs) rs587777139
NM_001382391.1(CSPP1):c.2387A>G (p.Glu796Gly) rs1827120184
NM_001382391.1(CSPP1):c.2521_2524del (p.Ile841fs) rs755739341
NM_001382391.1(CSPP1):c.959T>G (p.Met320Arg) rs1313170509
NM_001384732.1(CPLANE1):c.4629T>G (p.Phe1543Leu) rs1783222163
NM_001384732.1(CPLANE1):c.6302G>T (p.Arg2101Ile) rs771457677
NM_001384732.1(CPLANE1):c.7367C>T (p.Pro2456Leu) rs146595129
NM_003611.3(OFD1):c.400_403del (p.Glu134fs) rs312262830
NM_003611.3(OFD1):c.604_609del (p.Glu202_Tyr203del) rs1602826132
NM_003611.3(OFD1):c.991C>T (p.Gln331Ter) rs1555904005
NM_014704.4(CEP104):c.2447G>T (p.Ser816Ile) rs759250010
NM_015202.5(KATNIP):c.3239A>G (p.Lys1080Arg)
NM_015202.5(KATNIP):c.4850G>A (p.Arg1617His)
NM_015631.6(TCTN3):c.730C>G (p.Pro244Ala) rs1389518788
NM_015681.6(B9D1):c.472+107G>A rs1908281984
NM_018718.3(CEP41):c.34-2A>G rs1797714974
NM_019892.6(INPP5E):c.1649_1651dup (p.Arg550dup) rs778019120
NM_025103.4(IFT74):c.358G>T (p.Glu120Ter)
NM_025114.4(CEP290):c.2594_2595del (p.Leu865fs) rs1221464366

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