List of variants reported as pathogenic for Joubert syndrome with Jeune asphyxiating thoracic dystrophy

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 170

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HGVS	dbSNP	gnomAD frequency
NM_001329943.3(KIAA0586):c.392del (p.Arg131fs)	rs534542684	0.00347
NM_001329943.3(KIAA0586):c.94dup (p.His32fs)	rs555421894	0.00053
NM_001329943.3(KIAA0586):c.1254-1G>C	rs757350052	0.00008
NM_001382391.1(CSPP1):c.132dup (p.Lys45Ter)	rs770296270	0.00004
NM_001382391.1(CSPP1):c.2335C>T (p.Arg779Ter)	rs587777138	0.00004
NM_001382391.1(CSPP1):c.631C>T (p.Arg211Ter)	rs375113643	0.00004
NM_001329943.3(KIAA0586):c.2536del (p.Val846fs)	rs1307758243	0.00003
NM_001329943.3(KIAA0586):c.831C>T (p.Leu277=)	rs780520735	0.00003
NM_001329943.3(KIAA0586):c.2353C>T (p.Arg785Ter)	rs1064793157	0.00002
NM_001329943.3(KIAA0586):c.3144G>A (p.Pro1048=)	rs540255320	0.00002
NM_001329943.3(KIAA0586):c.3580C>T (p.Gln1194Ter)	rs373763986	0.00002
NM_001329943.3(KIAA0586):c.3668C>G (p.Ser1223Ter)	rs776003330	0.00002
NM_001329943.3(KIAA0586):c.704_705del (p.Gln235fs)	rs770566897	0.00002
NM_001382391.1(CSPP1):c.1976-2A>G	rs1320076769	0.00002
NM_001382391.1(CSPP1):c.2275C>T (p.Arg759Ter)	rs771203308	0.00002
NM_001382391.1(CSPP1):c.430_431del (p.Arg144fs)	rs750696284	0.00002
NM_001329943.3(KIAA0586):c.1656G>A (p.Gln552=)	rs762081862	0.00001
NM_001329943.3(KIAA0586):c.2050C>T (p.Arg684Ter)	rs749475936	0.00001
NM_001329943.3(KIAA0586):c.2504_2508del (p.Leu835fs)	rs1410766981	0.00001
NM_001329943.3(KIAA0586):c.3097dup (p.Ala1033fs)	rs1364954371	0.00001
NM_001329943.3(KIAA0586):c.3700del (p.Val1234fs)	rs1253807820	0.00001
NM_001329943.3(KIAA0586):c.4495+3777del	rs1237632090	0.00001
NM_001329943.3(KIAA0586):c.4495+3785A>T	rs942756021	0.00001
NM_001382391.1(CSPP1):c.1186C>T (p.Arg396Ter)	rs775285273	0.00001
NM_001382391.1(CSPP1):c.1697+1G>T	rs863225193	0.00001
NM_001382391.1(CSPP1):c.1834G>T (p.Glu612Ter)	rs1225726214	0.00001
NM_001382391.1(CSPP1):c.2830A>T (p.Lys944Ter)	rs1380418532	0.00001
NM_001382391.1(CSPP1):c.2968+1G>T	rs587777142	0.00001
NM_001382391.1(CSPP1):c.2980C>T (p.Arg994Ter)	rs760275528	0.00001
NM_001382391.1(CSPP1):c.940C>T (p.Arg314Ter)	rs774703929	0.00001
NC_000008.10:g.(?_67976634)_(68658364_?)del
NC_000008.10:g.(?_67998222)_(67998365_?)del
NC_000008.10:g.(?_68044166)_(68044335_?)del
NC_000014.8:g.(?_58711639)_(59014694_?)del
NC_000014.8:g.(?_58926541)_(58927898_?)del
NC_000014.8:g.(?_58938897)_(58941535_?)del
NC_000014.8:g.(?_58975253)_(58975447_?)del
NC_000014.9:g.(?_58443934)_(58450766_?)del
NM_001329943.3(KIAA0586):c.1075_1076del (p.Lys359fs)	rs2140706563
NM_001329943.3(KIAA0586):c.1085del (p.Asn362fs)
NM_001329943.3(KIAA0586):c.1093del (p.Glu365fs)	rs1232900431
NM_001329943.3(KIAA0586):c.1193del (p.Ser398fs)
NM_001329943.3(KIAA0586):c.126T>A (p.Cys42Ter)	rs1301378192
NM_001329943.3(KIAA0586):c.12dup (p.Glu5Ter)
NM_001329943.3(KIAA0586):c.1342_1345del (p.Glu448fs)
NM_001329943.3(KIAA0586):c.134_137dup (p.Leu47fs)
NM_001329943.3(KIAA0586):c.1466_1476del (p.Lys489fs)	rs2140844892
NM_001329943.3(KIAA0586):c.1645del (p.Ala549fs)
NM_001329943.3(KIAA0586):c.1654C>T (p.Gln552Ter)
NM_001329943.3(KIAA0586):c.1667dup (p.Arg557fs)	rs2140873534
NM_001329943.3(KIAA0586):c.1708C>T (p.Gln570Ter)	rs2040187420
NM_001329943.3(KIAA0586):c.1743dup (p.Ile582fs)
NM_001329943.3(KIAA0586):c.1804C>T (p.Gln602Ter)	rs1566827747
NM_001329943.3(KIAA0586):c.1872del (p.Glu625fs)	rs2140875258
NM_001329943.3(KIAA0586):c.1892dup (p.Leu631fs)
NM_001329943.3(KIAA0586):c.1927_1928del (p.Met643fs)
NM_001329943.3(KIAA0586):c.1935del (p.Val646fs)	rs2140886312
NM_001329943.3(KIAA0586):c.194C>G (p.Ser65Ter)	rs797045119
NM_001329943.3(KIAA0586):c.2047_2048del (p.Glu683fs)	rs2140887842
NM_001329943.3(KIAA0586):c.2257C>T (p.Gln753Ter)
NM_001329943.3(KIAA0586):c.235C>T (p.Gln79Ter)
NM_001329943.3(KIAA0586):c.2405del (p.Lys802fs)
NM_001329943.3(KIAA0586):c.25G>T (p.Glu9Ter)	rs2140372917
NM_001329943.3(KIAA0586):c.2800del (p.Thr934fs)
NM_001329943.3(KIAA0586):c.2810del (p.Asn937fs)
NM_001329943.3(KIAA0586):c.3173del (p.Pro1058fs)
NM_001329943.3(KIAA0586):c.3211A>T (p.Lys1071Ter)
NM_001329943.3(KIAA0586):c.3341dup (p.Thr1115fs)
NM_001329943.3(KIAA0586):c.3353del (p.Pro1118fs)	rs2141193077
NM_001329943.3(KIAA0586):c.3481G>T (p.Glu1161Ter)
NM_001329943.3(KIAA0586):c.3638del (p.Pro1213fs)	rs2141202895
NM_001329943.3(KIAA0586):c.3718_3719del (p.Leu1240fs)
NM_001329943.3(KIAA0586):c.3793dup (p.Ile1265fs)
NM_001329943.3(KIAA0586):c.3804C>G (p.Tyr1268Ter)
NM_001329943.3(KIAA0586):c.38del (p.Lys13fs)	rs745949846
NM_001329943.3(KIAA0586):c.38dup (p.Ile14fs)	rs745949846
NM_001329943.3(KIAA0586):c.4012G>T (p.Glu1338Ter)
NM_001329943.3(KIAA0586):c.4077del (p.Leu1360fs)	rs762932867
NM_001329943.3(KIAA0586):c.4080_4081del (p.Met1362fs)	rs867342730
NM_001329943.3(KIAA0586):c.411-1371G>A	rs2038350104
NM_001329943.3(KIAA0586):c.411-1455_411-1454insGG
NM_001329943.3(KIAA0586):c.4208_4209del (p.Met1403fs)
NM_001329943.3(KIAA0586):c.4225del (p.Glu1409fs)	rs2141430525
NM_001329943.3(KIAA0586):c.4321C>T (p.Gln1441Ter)
NM_001329943.3(KIAA0586):c.4350dup (p.Lys1451Ter)
NM_001329943.3(KIAA0586):c.4373C>G (p.Ser1458Ter)
NM_001329943.3(KIAA0586):c.4377_4378del (p.Ser1460fs)
NM_001329943.3(KIAA0586):c.4420C>T (p.Gln1474Ter)
NM_001329943.3(KIAA0586):c.4456C>T (p.Gln1486Ter)	rs2140098022
NM_001329943.3(KIAA0586):c.4495+3755del	rs2140128017
NM_001329943.3(KIAA0586):c.4495+3767A>T	rs2140128191
NM_001329943.3(KIAA0586):c.465del (p.Gly156fs)
NM_001329943.3(KIAA0586):c.622dup (p.Thr208fs)	rs2140565674
NM_001329943.3(KIAA0586):c.653_663del (p.Asp218fs)
NM_001329943.3(KIAA0586):c.730G>T (p.Glu244Ter)	rs376338487
NM_001329943.3(KIAA0586):c.789dup (p.Gln264fs)	rs1203751352
NM_001329943.3(KIAA0586):c.938del (p.Tyr313fs)	rs2140664007
NM_001329943.3(KIAA0586):c.939dup (p.Asn314Ter)
NM_001329943.3(KIAA0586):c.961+1G>A
NM_001382391.1(CSPP1):c.-56del
NM_001382391.1(CSPP1):c.-69C>T	rs1294428066
NM_001382391.1(CSPP1):c.1083del (p.Met362fs)
NM_001382391.1(CSPP1):c.1105C>T (p.Arg369Ter)	rs374703898
NM_001382391.1(CSPP1):c.1153G>T (p.Glu385Ter)	rs886044058
NM_001382391.1(CSPP1):c.1187G>A (p.Arg396Gln)	rs760205035
NM_001382391.1(CSPP1):c.140dup (p.Ile48fs)
NM_001382391.1(CSPP1):c.1505del (p.Pro502fs)	rs1818317027
NM_001382391.1(CSPP1):c.1544_1547del (p.Asn515fs)	rs752908017
NM_001382391.1(CSPP1):c.1549C>T (p.Arg517Ter)	rs756752153
NM_001382391.1(CSPP1):c.1624del (p.Ser542fs)
NM_001382391.1(CSPP1):c.1698-1G>C	rs2129554176
NM_001382391.1(CSPP1):c.1787_1790del (p.Lys596fs)	rs1409618249
NM_001382391.1(CSPP1):c.1817del (p.Leu606fs)	rs1021950925
NM_001382391.1(CSPP1):c.1822C>T (p.Gln608Ter)	rs1821344202
NM_001382391.1(CSPP1):c.1850_1860del (p.Arg617fs)	rs1189289587
NM_001382391.1(CSPP1):c.1857_1860del (p.Lys619fs)
NM_001382391.1(CSPP1):c.19G>T (p.Glu7Ter)	rs1201375699
NM_001382391.1(CSPP1):c.2104G>T (p.Glu702Ter)	rs1825358020
NM_001382391.1(CSPP1):c.2205del (p.Lys735fs)
NM_001382391.1(CSPP1):c.2206C>T (p.Gln736Ter)
NM_001382391.1(CSPP1):c.2220C>A (p.Tyr740Ter)	rs1402669959
NM_001382391.1(CSPP1):c.2259_2260del (p.Glu755fs)	rs587777139
NM_001382391.1(CSPP1):c.2259_2262del (p.Glu755fs)	rs587777145
NM_001382391.1(CSPP1):c.2266G>T (p.Glu756Ter)
NM_001382391.1(CSPP1):c.2282_2283del (p.Arg761fs)
NM_001382391.1(CSPP1):c.2285_2286del (p.Leu762fs)	rs1827098991
NM_001382391.1(CSPP1):c.2295del (p.Glu766fs)	rs587777140
NM_001382391.1(CSPP1):c.2372_2376del (p.Lys791fs)
NM_001382391.1(CSPP1):c.2373_2374del (p.Lys794fs)
NM_001382391.1(CSPP1):c.2379_2380del (p.Lys794fs)	rs1375090095
NM_001382391.1(CSPP1):c.239_240del (p.Asp79_Tyr80insTer)
NM_001382391.1(CSPP1):c.2456_2459del (p.Lys819fs)	rs761382780
NM_001382391.1(CSPP1):c.2463_2469del (p.Glu822fs)	rs863225191
NM_001382391.1(CSPP1):c.2463_2469dup (p.Glu824fs)	rs863225191
NM_001382391.1(CSPP1):c.2477_2478insT (p.Lys826fs)
NM_001382391.1(CSPP1):c.2521_2524del (p.Ile841fs)	rs755739341
NM_001382391.1(CSPP1):c.2527dup (p.Glu843fs)	rs1554604482
NM_001382391.1(CSPP1):c.2538+1G>T	rs2129560295
NM_001382391.1(CSPP1):c.2540del (p.His847fs)	rs1563720581
NM_001382391.1(CSPP1):c.2542_2543del (p.Met848fs)	rs587777143
NM_001382391.1(CSPP1):c.255_256del (p.His85fs)	rs1554562278
NM_001382391.1(CSPP1):c.2584del (p.Ile862fs)
NM_001382391.1(CSPP1):c.259_263del (p.Leu87fs)
NM_001382391.1(CSPP1):c.263_267del (p.Lys88fs)	rs2129543529
NM_001382391.1(CSPP1):c.264del (p.Glu89fs)
NM_001382391.1(CSPP1):c.2669C>A (p.Ser890Ter)
NM_001382391.1(CSPP1):c.2723del (p.Asn908fs)	rs863225190
NM_001382391.1(CSPP1):c.2741C>G (p.Ser914Ter)
NM_001382391.1(CSPP1):c.2788C>T (p.Arg930Ter)	rs537456518
NM_001382391.1(CSPP1):c.2829-9_2968+11del	rs1554614893
NM_001382391.1(CSPP1):c.2968+1G>A	rs587777142
NM_001382391.1(CSPP1):c.30del (p.Glu11fs)
NM_001382391.1(CSPP1):c.3142C>T (p.Arg1048Ter)	rs200881715
NM_001382391.1(CSPP1):c.3220+1G>A	rs773954226
NM_001382391.1(CSPP1):c.3227dup (p.Tyr1076Ter)	rs587777141
NM_001382391.1(CSPP1):c.3266del (p.Pro1089fs)
NM_001382391.1(CSPP1):c.3368_3371del (p.Leu1122_Ser1123insTer)	rs1206214608
NM_001382391.1(CSPP1):c.3405_3406del (p.Arg1136fs)	rs2129575958
NM_001382391.1(CSPP1):c.3406_3407insTATA (p.Arg1136delinsIleTer)	rs1175214174
NM_001382391.1(CSPP1):c.419_422del (p.Asn140fs)	rs1371078806
NM_001382391.1(CSPP1):c.430del (p.Arg144fs)	rs863225192
NM_001382391.1(CSPP1):c.442G>T (p.Glu148Ter)
NM_001382391.1(CSPP1):c.59_60del (p.Lys20fs)	rs766020802
NM_001382391.1(CSPP1):c.625C>T (p.Gln209Ter)	rs587777146
NM_001382391.1(CSPP1):c.853G>T (p.Glu285Ter)
NM_001382391.1(CSPP1):c.923+1G>C	rs863225194
NM_014714.4(IFT140):c.3141+1G>T	rs764770536
NM_014714.4(IFT140):c.3454-1003_4040+737delinsC
NM_014714.4(IFT140):c.3454-488_4182+2588dup
NM_014714.4(IFT140):c.874G>A (p.Val292Met)	rs431905521

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