ClinVar Miner

List of variants reported as benign for Jeune syndrome by Genome-Nilou Lab

Included ClinVar conditions (45):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 122
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HGVS dbSNP gnomAD frequency
NM_052844.4(DYNC2I2):c.178T>G (p.Trp60Gly) rs4837292 0.99672
NM_001329943.3(KIAA0586):c.1119G>A (p.Ser373=) rs1748971 0.99666
NM_024753.5(TTC21B):c.430-42C>T rs10930190 0.99611
NM_018051.5(DYNC2I1):c.675C>G (p.Asn225Lys) rs2709859 0.99194
NM_001329943.3(KIAA0586):c.3166C>G (p.Pro1056Ala) rs1617510 0.97670
NM_001329943.3(KIAA0586):c.1254-25G>A rs1743721 0.97577
NM_001329943.3(KIAA0586):c.2254+25A>G rs1743716 0.97575
NM_001329943.3(KIAA0586):c.2528T>C (p.Leu843Pro) rs1748986 0.97574
NM_014714.4(IFT140):c.2768+184A>G rs2745178 0.97367
NM_020779.4(WDR35):c.2824-14G>T rs1191779 0.96807
NM_025132.4(WDR19):c.603+23C>T rs1451817 0.96807
NM_014714.4(IFT140):c.3270+19T>C rs2745176 0.96626
NM_153717.3(EVC):c.769C>T (p.Leu257=) rs6446393 0.95639
NM_024753.5(TTC21B):c.826A>G (p.Thr276Ala) rs7592429 0.95088
NM_001377.3(DYNC2H1):c.5718C>A (p.Thr1906=) rs585692 0.94841
NM_001377.3(DYNC2H1):c.9107+34G>A rs670464 0.93561
NM_018051.5(DYNC2I1):c.2547-22_2547-21insC rs34181207 0.85394
NM_018051.5(DYNC2I1):c.2073A>G (p.Lys691=) rs2730238 0.85247
NM_052844.4(DYNC2I2):c.309T>C (p.Tyr103=) rs2298045 0.82136
NM_001199397.3(NEK1):c.2765-20G>A rs7680152 0.79844
NM_018051.5(DYNC2I1):c.2372-9C>T rs2244789 0.76494
NM_001377.3(DYNC2H1):c.8612G>A (p.Arg2871Gln) rs589623 0.75293
NM_016004.5(IFT52):c.159G>A (p.Val53=) rs2664519 0.74971
NM_052844.4(DYNC2I2):c.873C>T (p.Thr291=) rs4837291 0.72271
NM_153717.3(EVC):c.2305-8T>C rs1031919 0.72106
NM_153717.3(EVC):c.772T>C (p.Tyr258His) rs6414624 0.72068
NM_001375405.1(CEP120):c.2826T>C (p.Asp942=) rs1047438 0.71935
NM_153717.3(EVC):c.2894+18A>G rs2279250 0.71871
NM_052844.4(DYNC2I2):c.627G>A (p.Gln209=) rs10760570 0.70085
NM_153717.3(EVC):c.939+10A>G rs2286342 0.67122
NM_001377.3(DYNC2H1):c.4238A>G (p.Lys1413Arg) rs688906 0.66697
NM_014804.3(KIAA0753):c.*21A>G rs3744720 0.64487
NM_014804.3(KIAA0753):c.2687A>G (p.Gln896Arg) rs1443417 0.64459
NM_014804.3(KIAA0753):c.1397T>C (p.Leu466Pro) rs2289642 0.64436
NM_001377.3(DYNC2H1):c.6951C>T (p.His2317=) rs586592 0.64171
NM_024753.5(TTC21B):c.601G>A (p.Val201Met) rs1432273 0.61903
NM_014804.3(KIAA0753):c.1716T>C (p.Ala572=) rs4796519 0.61864
NM_153717.3(EVC):c.*14G>A rs2291151 0.61437
NM_153717.3(EVC):c.802-15C>T rs4689313 0.60798
NM_015693.4(INTU):c.813G>A (p.Thr271=) rs4833380 0.59996
NM_001377.3(DYNC2H1):c.6711A>G (p.Arg2237=) rs658804 0.59243
NM_020779.4(WDR35):c.25-46G>A rs3731663 0.57247
NM_015693.4(INTU):c.471A>G (p.Arg157=) rs3749507 0.55539
NM_001377.3(DYNC2H1):c.12156+23G>A rs2671333 0.54518
NM_001377.3(DYNC2H1):c.12096T>C (p.Asp4032=) rs2566913 0.54510
NM_153717.3(EVC):c.1026G>C (p.Leu342=) rs4688962 0.52761
NM_025132.4(WDR19):c.3716+46dup rs11096989 0.51347
NM_025132.4(WDR19):c.3841-27T>C rs12648082 0.51304
NM_001377.3(DYNC2H1):c.12366+7G>A rs10895417 0.51079
NM_014804.3(KIAA0753):c.1330G>A (p.Asp444Asn) rs2289643 0.49475
NM_018051.5(DYNC2I1):c.2778+36T>A rs2657331 0.48169
NM_015662.3(IFT172):c.2116-31T>C rs780107 0.47348
NM_015662.3(IFT172):c.1829+12G>A rs1647276 0.47329
NM_014714.4(IFT140):c.3454-48A>G rs932391 0.45637
NM_020779.4(WDR35):c.2496A>G (p.Glu832=) rs6741091 0.45165
NM_014714.4(IFT140):c.-17G>C rs1894649 0.44364
NM_001375405.1(CEP120):c.816C>T (p.His272=) rs6876883 0.44294
NM_018051.5(DYNC2I1):c.818A>G (p.Gln273Arg) rs2788478 0.43909
NM_014714.4(IFT140):c.148-22A>T rs2236269 0.43860
NM_014714.4(IFT140):c.1968T>C (p.Ser656=) rs8048410 0.42981
NM_153717.3(EVC):c.969T>C (p.Asn323=) rs4688963 0.40746
NM_024753.5(TTC21B):c.2138+48G>A rs7590559 0.40515
NM_014804.3(KIAA0753):c.69C>T (p.Ser23=) rs2301873 0.38122
NM_015662.3(IFT172):c.3915T>A (p.Ser1305=) rs56076827 0.37673
NM_153717.3(EVC):c.1099-19T>C rs899691 0.37351
NM_014714.4(IFT140):c.-31-52T>A rs743963 0.36752
NM_152773.5(DYNLT2B):c.113+17C>G rs2270769 0.36200
NM_018051.5(DYNC2I1):c.2094+24A>G rs6459913 0.35665
NM_024753.5(TTC21B):c.1695C>T (p.Tyr565=) rs6750044 0.34586
NM_014714.4(IFT140):c.*59T>C rs1053730 0.34440
NM_153717.3(EVC):c.939+4C>T rs2286343 0.33466
NM_024753.5(TTC21B):c.2175T>C (p.Phe725=) rs10176588 0.33260
NM_025132.4(WDR19):c.3183+16A>G rs11096987 0.33074
NM_014804.3(KIAA0753):c.1125A>T (p.Glu375Asp) rs9889363 0.32226
NM_020779.4(WDR35):c.2915A>G (p.Glu972Gly) rs1191778 0.31383
NM_014714.4(IFT140):c.2253T>C (p.Pro751=) rs2076436 0.30184
NM_025132.4(WDR19):c.891C>T (p.Cys297=) rs2167494 0.30055
NM_001377.3(DYNC2H1):c.11039C>T (p.Ala3680Val) rs10895391 0.29753
NM_147127.5(EVC2):c.3507C>T (p.His1169=) rs12511039 0.28547
NM_014804.3(KIAA0753):c.1697C>T (p.Pro566Leu) rs2304977 0.28533
NM_153717.3(EVC):c.1068A>G (p.Leu356=) rs33929747 0.26691
NM_014714.4(IFT140):c.4041-44T>C rs2076434 0.24775
NM_014714.4(IFT140):c.147+109G>A rs7192480 0.23445
NM_147127.5(EVC2):c.688A>G (p.Ser230Gly) rs4689278 0.21710
NM_014714.4(IFT140):c.2919C>T (p.Ala973=) rs2235640 0.19119
NM_018051.5(DYNC2I1):c.1921+24A>G rs10279428 0.18135
NM_018051.5(DYNC2I1):c.2976C>T (p.Val992=) rs34634437 0.16768
NM_001377.3(DYNC2H1):c.11256+18C>T rs11225674 0.16562
NM_018051.5(DYNC2I1):c.1137+23T>C rs842703 0.14437
NM_001377.3(DYNC2H1):c.11649+12C>A rs79978663 0.13559
NM_025132.4(WDR19):c.852A>G (p.Ser284=) rs17584431 0.11533
NM_020779.4(WDR35):c.3121+12A>C rs28502265 0.10214
NM_001377.3(DYNC2H1):c.1021C>T (p.His341Tyr) rs17301182 0.08896
NM_020779.4(WDR35):c.53A>G (p.Gln18Arg) rs1060742 0.07465
NM_001199397.3(NEK1):c.607-3T>C rs55679731 0.07330
NM_153717.3(EVC):c.1328G>A (p.Arg443Gln) rs35953626 0.07232
NM_001199397.3(NEK1):c.1146T>C (p.Ile382=) rs56064008 0.06017
NM_025132.4(WDR19):c.-9A>G rs60800612 0.05032
NM_025132.4(WDR19):c.910G>A (p.Val304Ile) rs75964850 0.03961
NM_025132.4(WDR19):c.3250G>A (p.Gly1084Ser) rs16995209 0.03548
NM_025132.4(WDR19):c.1357-10T>C rs16995189 0.01827
NM_025132.4(WDR19):c.1607G>C (p.Ser536Thr) rs115348383 0.00917
NM_025132.4(WDR19):c.2096G>A (p.Arg699Gln) rs138529452 0.00883
NM_025132.4(WDR19):c.1581C>A (p.Thr527=) rs114689848 0.00847
NM_025132.4(WDR19):c.3183+9G>A rs138318063 0.00248
NM_025132.4(WDR19):c.2142+12G>A rs149621476 0.00246
NM_025132.4(WDR19):c.1915A>G (p.Ser639Gly) rs150649460 0.00222
NM_025132.4(WDR19):c.3261+12G>A rs137960733 0.00076
NM_025132.4(WDR19):c.3416A>G (p.Gln1139Arg) rs75621037 0.00065
NM_025132.4(WDR19):c.1595T>C (p.Ile532Thr) rs749672769 0.00019
NM_025132.4(WDR19):c.3027C>T (p.Asp1009=) rs181975379 0.00011
NM_025132.4(WDR19):c.3722C>T (p.Pro1241Leu) rs576113399 0.00003
NM_001329943.3(KIAA0586):c.3305-8dup rs5808973
NM_001377.3(DYNC2H1):c.3574-8del rs5794210
NM_014804.3(KIAA0753):c.507T>C (p.Ser169=) rs2072149
NM_015662.3(IFT172):c.2877+48T>G rs780106
NM_016008.4(DYNC2LI1):c.98T>C (p.Phe33Ser) rs2288709
NM_018051.5(DYNC2I1):c.313_315del (p.Lys105del) rs3833679
NM_153717.3(EVC):c.1346C>A (p.Thr449Lys) rs2302075
NM_153717.3(EVC):c.1727G>A (p.Arg576Gln) rs1383180
NM_153717.3(EVC):c.1854C>T (p.Gly618=) rs11737221
NM_153717.3(EVC):c.2449+15del rs398092136

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