ClinVar Miner

List of variants studied for Joubert syndrome with Jeune asphyxiating thoracic dystrophy by Invitae

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 158
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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
NC_000014.9:g.(?_58443934)_(58450766_?)del
NC_000014.9:g.(?_58448320)_(58450766_?)dup
NM_001244189.2(KIAA0586):c.5T>G (p.Phe2Cys)
NM_001291339.1(CSPP1):c.1325_1326GA[2] (p.Lys444fs)
NM_001329943.3(KIAA0586):c.100G>T (p.Val34Phe) rs186659284
NM_001329943.3(KIAA0586):c.1045G>A (p.Val349Ile) rs771000156
NM_001329943.3(KIAA0586):c.1056A>G (p.Ser352=) rs148006211
NM_001329943.3(KIAA0586):c.1097A>T (p.Glu366Val) rs59248588
NM_001329943.3(KIAA0586):c.1230A>G (p.Gly410=) rs10135645
NM_001329943.3(KIAA0586):c.1253+3A>G rs762698768
NM_001329943.3(KIAA0586):c.1254-1G>C rs757350052
NM_001329943.3(KIAA0586):c.1439C>T (p.Thr480Ile) rs61745119
NM_001329943.3(KIAA0586):c.1543G>A (p.Ala515Thr) rs568910724
NM_001329943.3(KIAA0586):c.1568C>T (p.Ala523Val) rs556274091
NM_001329943.3(KIAA0586):c.1570T>A (p.Leu524Ile) rs61742715
NM_001329943.3(KIAA0586):c.15G>C (p.Glu5Asp) rs199554737
NM_001329943.3(KIAA0586):c.1656+7C>A rs777449141
NM_001329943.3(KIAA0586):c.1804C>T (p.Gln602Ter) rs1566827747
NM_001329943.3(KIAA0586):c.182T>C (p.Leu61Ser) rs183168709
NM_001329943.3(KIAA0586):c.202T>A (p.Ser68Thr) rs147119902
NM_001329943.3(KIAA0586):c.2060-3T>C rs17094553
NM_001329943.3(KIAA0586):c.2504_2508del (p.Leu835fs) rs1410766981
NM_001329943.3(KIAA0586):c.2553G>A (p.Lys851=)
NM_001329943.3(KIAA0586):c.257T>C (p.Met86Thr) rs74055693
NM_001329943.3(KIAA0586):c.2735C>T (p.Pro912Leu) rs139493302
NM_001329943.3(KIAA0586):c.2804T>A (p.Leu935Gln) rs537951340
NM_001329943.3(KIAA0586):c.2944+4A>C rs372841738
NM_001329943.3(KIAA0586):c.3003C>A (p.Asn1001Lys) rs199537542
NM_001329943.3(KIAA0586):c.3104G>A (p.Gly1035Asp) rs77860620
NM_001329943.3(KIAA0586):c.3144G>A (p.Pro1048=) rs540255320
NM_001329943.3(KIAA0586):c.3165_3166delinsAG (p.Pro1056Ala) rs386777947
NM_001329943.3(KIAA0586):c.3283A>C (p.Lys1095Gln) rs140565291
NM_001329943.3(KIAA0586):c.3553G>A (p.Glu1185Lys) rs200722491
NM_001329943.3(KIAA0586):c.365A>G (p.Tyr122Cys) rs746136288
NM_001329943.3(KIAA0586):c.3663T>G (p.Ser1221=) rs201202020
NM_001329943.3(KIAA0586):c.3668C>G (p.Ser1223Ter)
NM_001329943.3(KIAA0586):c.3688T>C (p.Leu1230=) rs143158234
NM_001329943.3(KIAA0586):c.3719T>C (p.Leu1240Ser) rs190271845
NM_001329943.3(KIAA0586):c.3739G>A (p.Gly1247Arg) rs1595348112
NM_001329943.3(KIAA0586):c.3781+2T>C rs1331480187
NM_001329943.3(KIAA0586):c.3781+8A>G rs368737744
NM_001329943.3(KIAA0586):c.3799C>G (p.Leu1267Val) rs1425457941
NM_001329943.3(KIAA0586):c.3861G>A (p.Glu1287=) rs188676684
NM_001329943.3(KIAA0586):c.38dup (p.Ile14fs) rs745949846
NM_001329943.3(KIAA0586):c.3920A>G (p.Asp1307Gly) rs3783697
NM_001329943.3(KIAA0586):c.392del (p.Arg131fs) rs534542684
NM_001329943.3(KIAA0586):c.3980A>G (p.Tyr1327Cys) rs201929144
NM_001329943.3(KIAA0586):c.4047G>A (p.Ala1349=) rs61729923
NM_001329943.3(KIAA0586):c.4125A>G (p.Gln1375=) rs148016417
NM_001329943.3(KIAA0586):c.4160C>T (p.Thr1387Ile) rs376795880
NM_001329943.3(KIAA0586):c.422T>C (p.Met141Thr) rs61735931
NM_001329943.3(KIAA0586):c.42T>A (p.Ile14=) rs554948147
NM_001329943.3(KIAA0586):c.4404T>C (p.Ser1468=) rs774903272
NM_001329943.3(KIAA0586):c.4430-6A>C rs199732899
NM_001329943.3(KIAA0586):c.4461T>C (p.Ile1487=) rs11611
NM_001329943.3(KIAA0586):c.4472C>T (p.Pro1491Leu) rs370303493
NM_001329943.3(KIAA0586):c.4519G>A (p.Ala1507Thr) rs140026883
NM_001329943.3(KIAA0586):c.4560G>A (p.Pro1520=) rs45568037
NM_001329943.3(KIAA0586):c.4629G>A (p.Ser1543=) rs61745066
NM_001329943.3(KIAA0586):c.4646G>A (p.Ter1549=) rs758764999
NM_001329943.3(KIAA0586):c.657A>G (p.Lys219=) rs533752814
NM_001329943.3(KIAA0586):c.698G>A (p.Arg233Lys) rs193056942
NM_001329943.3(KIAA0586):c.789dup (p.Gln264fs) rs1203751352
NM_001329943.3(KIAA0586):c.831C>T (p.Leu277=) rs780520735
NM_001329943.3(KIAA0586):c.94dup (p.His32fs) rs555421894
NM_001329943.3(KIAA0586):c.974A>T (p.Glu325Val) rs144456198
NM_024790.6(CSPP1):c.1021A>G (p.Ile341Val)
NM_024790.6(CSPP1):c.1088A>G (p.Asp363Gly) rs146127619
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.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.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.216G>T (p.Leu72Phe)
NM_024790.6(CSPP1):c.2219G>A (p.Arg740His)
NM_024790.6(CSPP1):c.2253A>G (p.Glu751=) rs199962946
NM_024790.6(CSPP1):c.2279C>A (p.Ala760Glu) rs376549634
NM_024790.6(CSPP1):c.2320C>T (p.Arg774Ter) rs587777138
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.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.2798A>G (p.Asp933Gly) rs1282726257
NM_024790.6(CSPP1):c.2815A>T (p.Lys939Ter) rs1380418532
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.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.3640C>G (p.Gln1214Glu)
NM_024790.6(CSPP1):c.382C>T (p.Arg128Trp)
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.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.951-9G>A rs199910808
NM_024790.6(CSPP1):c.992A>G (p.His331Arg) rs141389465

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