ClinVar Miner

List of variants reported as pathogenic for Jeune syndrome by OMIM

Included ClinVar conditions (49):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 129
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HGVS dbSNP gnomAD frequency
NM_001377.3(DYNC2H1):c.11263A>G (p.Met3755Val) rs137853026 0.00105
NM_153717.3(EVC):c.1886+5G>T rs794726665 0.00036
NM_001377.3(DYNC2H1):c.9044A>G (p.Asp3015Gly) rs137853027 0.00026
NM_001377.3(DYNC2H1):c.11726G>A (p.Gly3909Asp) rs201479015 0.00013
NM_147127.5(EVC2):c.2848C>T (p.Arg950Trp) rs137852928 0.00012
NM_001199397.3(NEK1):c.3107C>G (p.Ser1036Ter) rs199947197 0.00009
NM_014714.4(IFT140):c.1565G>A (p.Gly522Glu) rs199826737 0.00009
NM_014714.4(IFT140):c.634G>A (p.Gly212Arg) rs201188361 0.00008
NM_147127.5(EVC2):c.3265C>T (p.Gln1089Ter) rs137852927 0.00008
NM_014714.4(IFT140):c.2399+1G>T rs376586707 0.00006
NM_014804.3(KIAA0753):c.810C>T (p.Tyr270=) rs752659088 0.00006
NM_016008.4(DYNC2LI1):c.349C>G (p.Leu117Val) rs201948500 0.00005
NM_014714.4(IFT140):c.1990G>A (p.Glu664Lys) rs387907192 0.00004
NM_015662.3(IFT172):c.5179T>C (p.Cys1727Arg) rs149614625 0.00004
NM_016008.4(DYNC2LI1):c.659C>T (p.Thr220Ile) rs886037860 0.00004
NM_052844.4(DYNC2I2):c.1339C>T (p.Arg447Trp) rs587777093 0.00004
NM_147127.5(EVC2):c.1195C>T (p.Arg399Ter) rs137852924 0.00004
NM_001199397.3(NEK1):c.379C>T (p.Arg127Ter) rs387906890 0.00003
NM_001375405.1(CEP120):c.595G>C (p.Ala199Pro) rs367600930 0.00003
NM_015693.4(INTU):c.1499A>C (p.Glu500Ala) rs1360128571 0.00003
NM_016008.4(DYNC2LI1):c.619C>T (p.Arg207Ter) rs745930390 0.00003
NM_020800.3(IFT80):c.2101G>C (p.Ala701Pro) rs137853116 0.00003
NM_024753.5(TTC21B):c.1231C>T (p.Arg411Ter) rs185089786 0.00003
NM_153717.3(EVC):c.1018C>T (p.Arg340Ter) rs121908425 0.00003
NM_001377.3(DYNC2H1):c.3719T>C (p.Ile1240Thr) rs137853028 0.00002
NM_001377.3(DYNC2H1):c.8512C>T (p.Arg2838Ter) rs137853032 0.00002
NM_014804.3(KIAA0753):c.970C>T (p.Arg324Ter) rs746068882 0.00002
NM_018051.5(DYNC2I1):c.2246C>T (p.Thr749Met) rs587777065 0.00002
NM_052844.4(DYNC2I2):c.472C>T (p.Gln158Ter) rs587777097 0.00002
NM_147127.5(EVC2):c.3660del (p.Ser1220fs) rs753581033 0.00002
NM_153717.3(EVC):c.2635C>T (p.Gln879Ter) rs121908424 0.00002
NM_001102564.3(IFT43):c.2T>A (p.Met1Lys) rs769724508 0.00001
NM_001199397.3(NEK1):c.869-1G>T rs794727032 0.00001
NM_001329943.3(KIAA0586):c.1656G>A (p.Gln552=) rs762081862 0.00001
NM_001375405.1(CEP120):c.451C>T (p.Arg151Ter) rs757499322 0.00001
NM_001377.3(DYNC2H1):c.10042G>T (p.Gly3348Ter) rs137853029 0.00001
NM_001377.3(DYNC2H1):c.1759C>T (p.Arg587Cys) rs137853030 0.00001
NM_001377.3(DYNC2H1):c.7985G>A (p.Arg2662Gln) rs397514635 0.00001
NM_001377.3(DYNC2H1):c.988C>T (p.Arg330Cys) rs397514637 0.00001
NM_014714.4(IFT140):c.2177C>T (p.Pro726Leu) rs1417500285 0.00001
NM_014804.3(KIAA0753):c.943C>T (p.Gln315Ter) rs762771340 0.00001
NM_015662.3(IFT172):c.4630C>T (p.Arg1544Cys) rs587777079 0.00001
NM_016004.5(IFT52):c.293A>G (p.Asn98Ser) rs530999984 0.00001
NM_016004.5(IFT52):c.424C>T (p.Arg142Ter) rs748090019 0.00001
NM_016004.5(IFT52):c.595G>A (p.Ala199Thr) rs886037869 0.00001
NM_016008.4(DYNC2LI1):c.2T>C (p.Met1Thr) rs200859699 0.00001
NM_016008.4(DYNC2LI1):c.372G>A (p.Trp124Ter) rs769975073 0.00001
NM_016008.4(DYNC2LI1):c.993+1G>A rs374356079 0.00001
NM_020779.4(WDR35):c.1600C>T (p.Arg534Ter) rs387907085 0.00001
NM_020779.4(WDR35):c.781T>C (p.Trp261Arg) rs431905505 0.00001
NM_020800.3(IFT80):c.2048G>T (p.Gly683Val) rs1302753011 0.00001
NM_052844.4(DYNC2I2):c.1061C>T (p.Thr354Met) rs587777092 0.00001
NM_052844.4(DYNC2I2):c.1177G>A (p.Gly393Ser) rs587777096 0.00001
NM_147127.5(EVC2):c.1855C>T (p.Gln619Ter) rs137852925 0.00001
NM_147127.5(EVC2):c.2056dup (p.Gln686fs) rs1265421045 0.00001
NM_147127.5(EVC2):c.2653C>T (p.Arg885Ter) rs146538906 0.00001
NM_147127.5(EVC2):c.707-2A>G rs1302074641 0.00001
NM_147127.5(EVC2):c.848T>G (p.Ile283Arg) rs137852926 0.00001
NM_152773.5(DYNLT2B):c.262C>T (p.Arg88Ter) rs771373235 0.00001
NM_153717.3(EVC):c.919T>C (p.Ser307Pro) rs121908426 0.00001
NM_001080463.1(DYNC2H1):c.626_654dup (p.Glu219Phefs) rs1565310938
NM_001102564.3(IFT43):c.520T>C (p.Trp174Arg) rs1555369050
NM_001199397.3(NEK1):c.1640dup (p.Asn547fs) rs483352907
NM_001199397.3(NEK1):c.3830A>C (p.Asp1277Ala) rs1157065841
NM_001199397.3(NEK1):c.433G>A (p.Gly145Arg) rs431905508
NM_001199397.3(NEK1):c.514C>T (p.Pro172Ser) rs1554075506
NM_001199397.3(NEK1):c.869-2A>G rs483352906
NM_001329943.3(KIAA0586):c.194C>G (p.Ser65Ter) rs797045119
NM_001375405.1(CEP120):c.2924T>G (p.Ile975Ser) rs1554098663
NM_001377.3(DYNC2H1):c.10109del (p.Leu3370fs) rs431905500
NM_001377.3(DYNC2H1):c.4610A>G (p.Gln1537Arg) rs137853033
NM_001377.3(DYNC2H1):c.5151+1G>T rs431905499
NM_001377.3(DYNC2H1):c.5959A>G (p.Thr1987Ala) rs137853035
NM_001377.3(DYNC2H1):c.5971A>T (p.Met1991Leu) rs137853025
NM_001377.3(DYNC2H1):c.624_625delinsAA (p.Phe209Ile) rs431905498
NM_001377.3(DYNC2H1):c.6614G>A (p.Arg2205His) rs137853031
NM_001377.3(DYNC2H1):c.7382G>T (p.Gly2461Val) rs137853034
NM_001377.3(DYNC2H1):c.7486C>T (p.Pro2496Ser) rs397514636
NM_001377.3(DYNC2H1):c.8534del (p.Asn2845fs) rs431905507
NM_014055.4(IFT81):c.1300CTT[1] (p.Leu435del) rs1555266475
NM_014055.4(IFT81):c.785T>G (p.Leu262Ter) rs576969206
NM_014714.4(IFT140):c.1380del (p.Asn460fs) rs431905522
NM_014714.4(IFT140):c.2278C>T (p.Arg760Ter) rs1555486629
NM_014714.4(IFT140):c.2577+25G>A rs1423102192
NM_014714.4(IFT140):c.2767_2768+2del rs769075694
NM_014714.4(IFT140):c.3454-488_4182+2588dup
NM_014714.4(IFT140):c.3916dup (p.Ala1306fs) rs587776909
NM_014714.4(IFT140):c.4078T>C (p.Cys1360Arg) rs431905520
NM_014714.4(IFT140):c.857_860del (p.Ile286fs) rs431905506
NM_014714.4(IFT140):c.874G>A (p.Val292Met) rs431905521
NM_014714.4(IFT140):c.932A>G (p.Tyr311Cys) rs387907193
NM_014804.3(KIAA0753):c.1271del (p.Pro424fs) rs1555531363
NM_014804.3(KIAA0753):c.1571_1572del (p.Arg524fs) rs770256450
NM_014804.3(KIAA0753):c.1830-2A>G rs1970256904
NM_015662.3(IFT172):c.1232T>A (p.Ile411Asn) rs587777085
NM_015693.4(INTU):c.1063G>T (p.Glu355Ter) rs1037828930
NM_016004.5(IFT52):c.556A>G (p.Thr186Ala) rs1983651325
NM_016004.5(IFT52):c.695_699delinsCA (p.Ile232_Met233delinsThr) rs1984074001
NM_016004.5(IFT52):c.878del (p.Leu293fs) rs886037870
NM_016008.4(DYNC2LI1):c.1000G>T (p.Glu334Ter) rs879255655
NM_016008.4(DYNC2LI1):c.123_124insA (p.Gly42fs) rs1553359373
NM_016008.4(DYNC2LI1):c.18_19del (p.Trp7fs) rs1435689952
NM_016008.4(DYNC2LI1):c.420del (p.Lys140_Val141insTer) rs770155116
NM_016008.4(DYNC2LI1):c.655-9del rs752971070
NM_016008.4(DYNC2LI1):c.993+3A>G rs879255656
NM_018051.5(DYNC2I1):c.1703-3T>A rs587777066
NM_018051.5(DYNC2I1):c.1891C>T (p.Gln631Ter) rs587777064
NM_020779.4(WDR35):c.143-18T>A rs1553324519
NM_020779.4(WDR35):c.307+214_436+1120del
NM_020800.3(IFT80):c.1288G>A (p.Ala430Thr) rs1716375276
NM_020800.3(IFT80):c.1646_1648del (p.Leu549del) rs431905497
NM_020800.3(IFT80):c.315C>G (p.His105Gln) rs137853115
NM_020800.3(IFT80):c.721G>A (p.Gly241Arg) rs138004478
NM_024753.5(TTC21B):c.152-2A>G rs760214276
NM_024753.5(TTC21B):c.2384T>C (p.Leu795Pro) rs387907060
NM_024753.5(TTC21B):c.3605T>C (p.Leu1202Pro) rs759086770
NM_025132.4(WDR19):c.1442A>G (p.His481Arg) rs1729264976
NM_025132.4(WDR19):c.20T>C (p.Leu7Pro) rs387906982
NM_025132.4(WDR19):c.2741C>A (p.Ala914Asp) rs766616967
NM_052844.4(DYNC2I2):c.1022C>T (p.Ala341Val) rs587777091
NM_052844.4(DYNC2I2):c.1307A>G (p.Lys436Arg) rs587777098
NM_052844.4(DYNC2I2):c.1340G>A (p.Arg447Gln) rs587777094
NM_052844.4(DYNC2I2):c.1541_1542del (p.Thr514fs) rs431905519
NM_052844.4(DYNC2I2):c.982-2A>C rs587777095
NM_147127.5(EVC2):c.194_198dup (p.Ser67fs) rs992326794
NM_152773.5(DYNLT2B):c.100delinsCT (p.Val34fs) rs1060505043
NM_152773.5(DYNLT2B):c.113+2C>G rs1056574154
NM_153717.3(EVC):c.2457del (p.Met820fs) rs794726666
NM_153717.3(EVC):c.735del (p.Asp246fs) rs587776619

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