ClinVar Miner

List of variants in gene DYNC2H1 reported as likely pathogenic for Jeune syndrome

Included ClinVar conditions (45):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 240
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HGVS dbSNP gnomAD frequency
NM_001377.3(DYNC2H1):c.3097-4A>G rs368802969 0.00476
NM_001377.3(DYNC2H1):c.3682C>A (p.Leu1228Ile) rs189806840 0.00189
NM_001377.3(DYNC2H1):c.11263A>G (p.Met3755Val) rs137853026 0.00105
NM_001377.3(DYNC2H1):c.6047A>G (p.Tyr2016Cys) rs200190291 0.00090
NM_001377.3(DYNC2H1):c.4073G>A (p.Arg1358His) rs184256941 0.00078
NM_001377.3(DYNC2H1):c.9044A>G (p.Asp3015Gly) rs137853027 0.00026
NM_001377.3(DYNC2H1):c.7967G>A (p.Arg2656His) rs200614421 0.00018
NM_001377.3(DYNC2H1):c.10198C>T (p.Arg3400Ter) rs943680446 0.00016
NM_001377.3(DYNC2H1):c.10573C>T (p.Arg3525Ter) rs181011657 0.00014
NM_001377.3(DYNC2H1):c.5793G>C (p.Leu1931Phe) rs185504536 0.00013
NM_001377.3(DYNC2H1):c.5960C>T (p.Thr1987Met) rs769618486 0.00011
NM_001377.3(DYNC2H1):c.5983G>A (p.Ala1995Thr) rs552436294 0.00011
NM_001377.3(DYNC2H1):c.10322T>C (p.Leu3441Pro) rs771487311 0.00007
NM_001377.3(DYNC2H1):c.1289G>A (p.Arg430His) rs770380730 0.00006
NM_001377.3(DYNC2H1):c.8012T>C (p.Met2671Thr) rs1196317554 0.00006
NM_001377.3(DYNC2H1):c.625T>A (p.Phe209Ile) rs771511132 0.00005
NM_001377.3(DYNC2H1):c.10100G>A (p.Arg3367His) rs759549373 0.00004
NM_001377.3(DYNC2H1):c.12829A>G (p.Arg4277Gly) rs368654019 0.00004
NM_001377.3(DYNC2H1):c.6480T>A (p.Asn2160Lys) rs775426647 0.00004
NM_001377.3(DYNC2H1):c.740G>A (p.Arg247Gln) rs761391585 0.00004
NM_001377.3(DYNC2H1):c.7594C>T (p.Arg2532Trp) rs1350329646 0.00004
NM_001377.3(DYNC2H1):c.8145C>A (p.Tyr2715Ter) rs371940321 0.00004
NM_001377.3(DYNC2H1):c.9011G>A (p.Arg3004His) rs755871858 0.00004
NM_001377.3(DYNC2H1):c.10142C>T (p.Pro3381Leu) rs368631447 0.00003
NM_001377.3(DYNC2H1):c.11270A>G (p.Gln3757Arg) rs758727391 0.00003
NM_001377.3(DYNC2H1):c.1151C>T (p.Ala384Val) rs369614706 0.00003
NM_001377.3(DYNC2H1):c.12410C>G (p.Pro4137Arg) rs761765709 0.00003
NM_001377.3(DYNC2H1):c.12439C>T (p.Arg4147Cys) rs755441612 0.00003
NM_001377.3(DYNC2H1):c.1306G>T (p.Glu436Ter) rs371011047 0.00003
NM_001377.3(DYNC2H1):c.4267C>T (p.Arg1423Cys) rs745870321 0.00003
NM_001377.3(DYNC2H1):c.7663G>A (p.Val2555Met) rs746195428 0.00003
NM_001377.3(DYNC2H1):c.7966C>T (p.Arg2656Cys) rs371214841 0.00003
NM_001377.3(DYNC2H1):c.9353+1G>A rs776407305 0.00003
NM_001377.3(DYNC2H1):c.9565C>T (p.Gln3189Ter) rs373924400 0.00003
NM_001377.3(DYNC2H1):c.10042+2T>G rs1261505725 0.00002
NM_001377.3(DYNC2H1):c.11312C>T (p.Ala3771Val) rs760635983 0.00002
NM_001377.3(DYNC2H1):c.11829C>G (p.Tyr3943Ter) rs369658526 0.00002
NM_001377.3(DYNC2H1):c.1360+2del rs780539887 0.00002
NM_001377.3(DYNC2H1):c.3353del (p.Ser1118fs) rs755338872 0.00002
NM_001377.3(DYNC2H1):c.5087C>T (p.Thr1696Met) rs751030969 0.00002
NM_001377.3(DYNC2H1):c.7277G>T (p.Arg2426Leu) rs373521030 0.00002
NM_001377.3(DYNC2H1):c.8512C>T (p.Arg2838Ter) rs137853032 0.00002
NM_001377.3(DYNC2H1):c.10585C>T (p.Arg3529Ter) rs562139820 0.00001
NM_001377.3(DYNC2H1):c.11049G>A (p.Pro3683=) rs764926983 0.00001
NM_001377.3(DYNC2H1):c.1248+1G>A rs1389651809 0.00001
NM_001377.3(DYNC2H1):c.12642_12643insT (p.Ile4215fs) rs756811136 0.00001
NM_001377.3(DYNC2H1):c.12896G>A (p.Gly4299Glu) rs770569272 0.00001
NM_001377.3(DYNC2H1):c.1759C>T (p.Arg587Cys) rs137853030 0.00001
NM_001377.3(DYNC2H1):c.3059T>G (p.Leu1020Ter) rs373335226 0.00001
NM_001377.3(DYNC2H1):c.327C>G (p.Tyr109Ter) rs755305630 0.00001
NM_001377.3(DYNC2H1):c.337C>T (p.Arg113Trp) rs745569868 0.00001
NM_001377.3(DYNC2H1):c.4625C>T (p.Ala1542Val) rs1043384862 0.00001
NM_001377.3(DYNC2H1):c.4964A>G (p.Tyr1655Cys) rs1461272672 0.00001
NM_001377.3(DYNC2H1):c.5876T>A (p.Ile1959Asn) rs756556129 0.00001
NM_001377.3(DYNC2H1):c.6478-16G>A rs376892534 0.00001
NM_001377.3(DYNC2H1):c.6613C>T (p.Arg2205Cys) rs750689118 0.00001
NM_001377.3(DYNC2H1):c.6866T>C (p.Leu2289Pro) rs1555061205 0.00001
NM_001377.3(DYNC2H1):c.7112C>T (p.Thr2371Ile) rs1322884865 0.00001
NM_001377.3(DYNC2H1):c.7409C>G (p.Ala2470Gly) rs1555062849 0.00001
NM_001377.3(DYNC2H1):c.7441C>T (p.Arg2481Ter) rs537704873 0.00001
NM_001377.3(DYNC2H1):c.7577T>G (p.Ile2526Ser) rs762588952 0.00001
NM_001377.3(DYNC2H1):c.7643T>C (p.Phe2548Ser) rs1555064376 0.00001
NM_001377.3(DYNC2H1):c.767-2A>G rs762873763 0.00001
NM_001377.3(DYNC2H1):c.7945G>T (p.Gly2649Cys) rs758155107 0.00001
NM_001377.3(DYNC2H1):c.7984C>T (p.Arg2662Trp) rs964711006 0.00001
NM_001377.3(DYNC2H1):c.7985G>A (p.Arg2662Gln) rs397514635 0.00001
NM_001377.3(DYNC2H1):c.8050G>T (p.Gly2684Ter) rs747857715 0.00001
NM_001377.3(DYNC2H1):c.8197G>T (p.Gly2733Cys) rs969015057 0.00001
NM_001377.3(DYNC2H1):c.8694+1G>T rs1455606327 0.00001
NM_001377.3(DYNC2H1):c.9313C>T (p.Arg3105Ter) rs777932973 0.00001
NM_001377.3(DYNC2H1):c.9820-2A>G rs864622111 0.00001
NM_001377.3(DYNC2H1):c.9844G>A (p.Asp3282Asn) rs780600124 0.00001
NM_001377.3(DYNC2H1):c.988C>T (p.Arg330Cys) rs397514637 0.00001
NC_000011.10:g.(?_103303073)_(103316640_?)del
NM_001377.3(DYNC2H1):c.10099C>A (p.Arg3367Ser)
NM_001377.3(DYNC2H1):c.10099C>T (p.Arg3367Cys) rs200710887
NM_001377.3(DYNC2H1):c.10100G>T (p.Arg3367Leu) rs759549373
NM_001377.3(DYNC2H1):c.10105T>C (p.Phe3369Leu) rs1555081345
NM_001377.3(DYNC2H1):c.10141C>T (p.Pro3381Ser)
NM_001377.3(DYNC2H1):c.10207-1G>C
NM_001377.3(DYNC2H1):c.10462-2A>G
NM_001377.3(DYNC2H1):c.10594C>T (p.Gln3532Ter) rs1565438488
NM_001377.3(DYNC2H1):c.10603C>T (p.Gln3535Ter) rs1555082470
NM_001377.3(DYNC2H1):c.10605+1G>T
NM_001377.3(DYNC2H1):c.10761+1G>A
NM_001377.3(DYNC2H1):c.1078C>T (p.Arg360Ter) rs764769351
NM_001377.3(DYNC2H1):c.10900C>T (p.Pro3634Ser) rs769053227
NM_001377.3(DYNC2H1):c.10918del (p.Leu3640fs) rs759649136
NM_001377.3(DYNC2H1):c.11256+1G>T
NM_001377.3(DYNC2H1):c.11320G>A (p.Gly3774Arg) rs2135399555
NM_001377.3(DYNC2H1):c.11390dup (p.Asn3797fs)
NM_001377.3(DYNC2H1):c.11493+2T>A rs1555096711
NM_001377.3(DYNC2H1):c.11494-1G>C
NM_001377.3(DYNC2H1):c.11597del (p.Ser3866fs) rs1555098222
NM_001377.3(DYNC2H1):c.11650-1G>A rs878852996
NM_001377.3(DYNC2H1):c.11713_11716del (p.Arg3905fs) rs1453448143
NM_001377.3(DYNC2H1):c.11726-1G>A
NM_001377.3(DYNC2H1):c.11726-2A>G
NM_001377.3(DYNC2H1):c.11934+1G>A
NM_001377.3(DYNC2H1):c.12156+1G>T
NM_001377.3(DYNC2H1):c.12157-1G>T
NM_001377.3(DYNC2H1):c.12157-2A>G
NM_001377.3(DYNC2H1):c.12367-1G>A
NM_001377.3(DYNC2H1):c.12409C>T (p.Pro4137Ser)
NM_001377.3(DYNC2H1):c.12410C>T (p.Pro4137Leu)
NM_001377.3(DYNC2H1):c.12440G>A (p.Arg4147His)
NM_001377.3(DYNC2H1):c.12456+2T>C rs778359687
NM_001377.3(DYNC2H1):c.12457-1G>C rs2135805319
NM_001377.3(DYNC2H1):c.12466_12469del (p.Asp4156fs) rs766816050
NM_001377.3(DYNC2H1):c.12542del (p.Asn4181fs)
NM_001377.3(DYNC2H1):c.12566+2T>C
NM_001377.3(DYNC2H1):c.12567-1G>A
NM_001377.3(DYNC2H1):c.12649-1G>A rs1333438254
NM_001377.3(DYNC2H1):c.12649-1G>T
NM_001377.3(DYNC2H1):c.12695T>G (p.Leu4232Arg) rs1945272232
NM_001377.3(DYNC2H1):c.12765+1_12765+4del
NM_001377.3(DYNC2H1):c.12806T>C (p.Leu4269Ser) rs1555143920
NM_001377.3(DYNC2H1):c.12831G>T (p.Arg4277Ser) rs372878677
NM_001377.3(DYNC2H1):c.1360+2T>G
NM_001377.3(DYNC2H1):c.1657_1660del (p.Leu553fs) rs748906528
NM_001377.3(DYNC2H1):c.1661+1G>C
NM_001377.3(DYNC2H1):c.1662-2A>G
NM_001377.3(DYNC2H1):c.1760G>A (p.Arg587His)
NM_001377.3(DYNC2H1):c.1847_1852del (p.Ile616_Leu617del) rs773897318
NM_001377.3(DYNC2H1):c.193A>C (p.Thr65Pro) rs555339053
NM_001377.3(DYNC2H1):c.1949T>A (p.Ile650Asn) rs1555041449
NM_001377.3(DYNC2H1):c.195+1G>A
NM_001377.3(DYNC2H1):c.1953G>A (p.Lys651=) rs1178331074
NM_001377.3(DYNC2H1):c.195G>T (p.Thr65=) rs896105030
NM_001377.3(DYNC2H1):c.2040dup (p.Ala681fs) rs1555042801
NM_001377.3(DYNC2H1):c.2225T>G (p.Met742Arg) rs774610143
NM_001377.3(DYNC2H1):c.2341T>G (p.Tyr781Asp) rs1555043520
NM_001377.3(DYNC2H1):c.2346-1G>A
NM_001377.3(DYNC2H1):c.2353C>T (p.Arg785Ter) rs755883373
NM_001377.3(DYNC2H1):c.2579_2580delinsAA (p.Trp860Ter)
NM_001377.3(DYNC2H1):c.2612T>C (p.Leu871Pro)
NM_001377.3(DYNC2H1):c.2702+1G>A rs864622358
NM_001377.3(DYNC2H1):c.2703-2A>G
NM_001377.3(DYNC2H1):c.2946+1G>C
NM_001377.3(DYNC2H1):c.2947-2_2949del
NM_001377.3(DYNC2H1):c.3095del (p.Gln1032fs) rs1555049536
NM_001377.3(DYNC2H1):c.3302+1G>T
NM_001377.3(DYNC2H1):c.3458+1G>A
NM_001377.3(DYNC2H1):c.3574-2A>G
NM_001377.3(DYNC2H1):c.3638T>G (p.Leu1213Arg) rs886039812
NM_001377.3(DYNC2H1):c.367-2A>G rs1291197898
NM_001377.3(DYNC2H1):c.3744+1G>A
NM_001377.3(DYNC2H1):c.3745-1G>A
NM_001377.3(DYNC2H1):c.3847G>C (p.Asp1283His) rs1555050986
NM_001377.3(DYNC2H1):c.4162_4170dup (p.Val1388_Thr1390dup) rs1555051720
NM_001377.3(DYNC2H1):c.4219C>T (p.Gln1407Ter)
NM_001377.3(DYNC2H1):c.4268G>A (p.Arg1423His)
NM_001377.3(DYNC2H1):c.4325G>A (p.Gly1442Asp)
NM_001377.3(DYNC2H1):c.4379-1G>C rs1555052497
NM_001377.3(DYNC2H1):c.4418T>C (p.Ile1473Thr) rs1555052511
NM_001377.3(DYNC2H1):c.4458del (p.Phe1486fs) rs1555052524
NM_001377.3(DYNC2H1):c.4491+1G>A
NM_001377.3(DYNC2H1):c.4491+2T>C
NM_001377.3(DYNC2H1):c.4492-1G>A
NM_001377.3(DYNC2H1):c.4553G>A (p.Cys1518Tyr) rs1555053115
NM_001377.3(DYNC2H1):c.4698del (p.Gln1566fs) rs1565359085
NM_001377.3(DYNC2H1):c.4699C>G (p.Leu1567Val) rs901629870
NM_001377.3(DYNC2H1):c.4820T>A (p.Ile1607Asn) rs1555054771
NM_001377.3(DYNC2H1):c.4969-2A>G
NM_001377.3(DYNC2H1):c.499C>T (p.Arg167Ter) rs755464335
NM_001377.3(DYNC2H1):c.5129T>A (p.Val1710Asp) rs777396565
NM_001377.3(DYNC2H1):c.5335-1G>A
NM_001377.3(DYNC2H1):c.5495C>A (p.Ser1832Ter) rs754919042
NM_001377.3(DYNC2H1):c.5558+1G>A
NM_001377.3(DYNC2H1):c.5558+2T>C rs762666243
NM_001377.3(DYNC2H1):c.5559-1G>C rs2134979684
NM_001377.3(DYNC2H1):c.5559-2A>G
NM_001377.3(DYNC2H1):c.5612del (p.Thr1871fs) rs1555056464
NM_001377.3(DYNC2H1):c.5771A>T (p.Asp1924Val) rs1565368733
NM_001377.3(DYNC2H1):c.5875-2A>T
NM_001377.3(DYNC2H1):c.5925del (p.Val1976fs) rs1380132788
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.5984C>T (p.Ala1995Val) rs963717773
NM_001377.3(DYNC2H1):c.6023T>C (p.Met2008Thr) rs2134994767
NM_001377.3(DYNC2H1):c.6035C>T (p.Ala2012Val)
NM_001377.3(DYNC2H1):c.6116G>A (p.Arg2039His) rs1555057503
NM_001377.3(DYNC2H1):c.6139+2T>C
NM_001377.3(DYNC2H1):c.6161G>C (p.Cys2054Ser) rs1555057838
NM_001377.3(DYNC2H1):c.6265A>G (p.Asn2089Asp) rs753662982
NM_001377.3(DYNC2H1):c.6271A>G (p.Asn2091Asp) rs1555057881
NM_001377.3(DYNC2H1):c.6347+1G>A rs1565371538
NM_001377.3(DYNC2H1):c.6381dup (p.Ser2128fs)
NM_001377.3(DYNC2H1):c.6387G>T (p.Trp2129Cys) rs1332318318
NM_001377.3(DYNC2H1):c.6439G>T (p.Asp2147Tyr)
NM_001377.3(DYNC2H1):c.6477+1G>A rs756313208
NM_001377.3(DYNC2H1):c.6477G>A (p.Gln2159=)
NM_001377.3(DYNC2H1):c.6545G>A (p.Cys2182Tyr) rs780855765
NM_001377.3(DYNC2H1):c.6562T>C (p.Phe2188Leu) rs1555060411
NM_001377.3(DYNC2H1):c.6574C>T (p.Leu2192Phe) rs1243999036
NM_001377.3(DYNC2H1):c.6614G>A (p.Arg2205His) rs137853031
NM_001377.3(DYNC2H1):c.6633+1G>A
NM_001377.3(DYNC2H1):c.6634-1G>C
NM_001377.3(DYNC2H1):c.6634-2A>G rs1555060940
NM_001377.3(DYNC2H1):c.6834G>T (p.Trp2278Cys) rs1384888093
NM_001377.3(DYNC2H1):c.6883T>C (p.Cys2295Arg) rs1555061228
NM_001377.3(DYNC2H1):c.6893+1G>A
NM_001377.3(DYNC2H1):c.6894-1G>A
NM_001377.3(DYNC2H1):c.6910G>A (p.Ala2304Thr) rs747348765
NM_001377.3(DYNC2H1):c.7268C>A (p.Ser2423Tyr) rs1555062340
NM_001377.3(DYNC2H1):c.7276C>T (p.Arg2426Cys)
NM_001377.3(DYNC2H1):c.7438-2A>G rs1555063811
NM_001377.3(DYNC2H1):c.7525T>C (p.Tyr2509His) rs1386343205
NM_001377.3(DYNC2H1):c.7541-2A>G
NM_001377.3(DYNC2H1):c.7547C>G (p.Ser2516Ter)
NM_001377.3(DYNC2H1):c.7774_7782del (p.Leu2592_Pro2594del) rs1555066796
NM_001377.3(DYNC2H1):c.7967G>T (p.Arg2656Leu) rs200614421
NM_001377.3(DYNC2H1):c.7972G>C (p.Gly2658Arg) rs1268066804
NM_001377.3(DYNC2H1):c.8070C>G (p.Phe2690Leu) rs1214801816
NM_001377.3(DYNC2H1):c.8190G>T (p.Leu2730Phe) rs770800903
NM_001377.3(DYNC2H1):c.8283del (p.Phe2761fs) rs1862810311
NM_001377.3(DYNC2H1):c.8310T>G (p.Tyr2770Ter) rs1437320571
NM_001377.3(DYNC2H1):c.8311+1G>A rs1555068270
NM_001377.3(DYNC2H1):c.8339T>C (p.Leu2780Ser) rs1565394086
NM_001377.3(DYNC2H1):c.8434del (p.Ser2812fs) rs1555068636
NM_001377.3(DYNC2H1):c.8484_8485del (p.Gly2829fs)
NM_001377.3(DYNC2H1):c.8590del (p.Ala2864fs) rs1555070451
NM_001377.3(DYNC2H1):c.8729T>C (p.Leu2910Pro) rs1555071484
NM_001377.3(DYNC2H1):c.8769_8770del (p.Leu2924fs) rs1555071503
NM_001377.3(DYNC2H1):c.8947-2A>G
NM_001377.3(DYNC2H1):c.8951del (p.Pro2983_Leu2984insTer)
NM_001377.3(DYNC2H1):c.9010C>T (p.Arg3004Cys)
NM_001377.3(DYNC2H1):c.9045T>G (p.Asp3015Glu) rs794727767
NM_001377.3(DYNC2H1):c.940T>C (p.Trp314Arg)
NM_001377.3(DYNC2H1):c.9440+4A>G
NM_001377.3(DYNC2H1):c.9710-2A>G rs1555077194
NM_001377.3(DYNC2H1):c.9760_9764del (p.Trp3253_Lys3254insTer) rs1218198013
NM_001377.3(DYNC2H1):c.9820A>C (p.Ser3274Arg) rs371932985
NM_001377.3(DYNC2H1):c.9845A>C (p.Asp3282Ala)
NM_001377.3(DYNC2H1):c.989G>A (p.Arg330His)
NM_001377.3(DYNC2H1):c.989G>T (p.Arg330Leu)
NM_001377.3(DYNC2H1):c.9918+1G>T rs772732648
NM_001377.3(DYNC2H1):c.9919-2A>C
NM_001377.3(DYNC2H1):c.9919-2A>T
NM_001377.3(DYNC2H1):c.999+1G>A

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