ClinVar Miner

List of variants in gene DYNC2I1 reported as likely benign for Jeune syndrome

Included ClinVar conditions (45):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 169
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HGVS dbSNP gnomAD frequency
NM_018051.5(DYNC2I1):c.1040C>T (p.Pro347Leu) rs73529717 0.00295
NM_018051.5(DYNC2I1):c.2768C>A (p.Pro923Gln) rs73167274 0.00265
NM_018051.5(DYNC2I1):c.2210C>T (p.Thr737Met) rs138296655 0.00209
NM_018051.5(DYNC2I1):c.1778G>A (p.Arg593Gln) rs58538724 0.00165
NM_018051.5(DYNC2I1):c.1883G>A (p.Ser628Asn) rs149660873 0.00118
NM_018051.5(DYNC2I1):c.2351C>T (p.Ser784Leu) rs151184533 0.00110
NM_018051.5(DYNC2I1):c.1048G>A (p.Glu350Lys) rs200061970 0.00098
NM_018051.5(DYNC2I1):c.714G>T (p.Glu238Asp) rs150548113 0.00098
NM_018051.5(DYNC2I1):c.357G>A (p.Lys119=) rs557538074 0.00073
NM_018051.5(DYNC2I1):c.1460+16A>T rs189495408 0.00066
NM_018051.5(DYNC2I1):c.785A>G (p.Lys262Arg) rs138438967 0.00054
NM_018051.5(DYNC2I1):c.2433+15A>G rs367950915 0.00052
NM_018051.5(DYNC2I1):c.134C>T (p.Ser45Phe) rs201226440 0.00044
NM_018051.5(DYNC2I1):c.324T>C (p.His108=) rs191864940 0.00028
NM_018051.5(DYNC2I1):c.2151G>A (p.Ala717=) rs375125159 0.00020
NM_018051.5(DYNC2I1):c.2670A>G (p.Arg890=) rs373640802 0.00016
NM_018051.5(DYNC2I1):c.1922-19A>G rs374835240 0.00015
NM_018051.5(DYNC2I1):c.1041G>A (p.Pro347=) rs202014035 0.00013
NM_018051.5(DYNC2I1):c.1977C>T (p.Ser659=) rs371944841 0.00010
NM_018051.5(DYNC2I1):c.1032C>A (p.Asp344Glu) rs140137568 0.00009
NM_018051.5(DYNC2I1):c.213C>T (p.Ala71=) rs573392724 0.00009
NM_018051.5(DYNC2I1):c.2779-6T>G rs190324060 0.00009
NM_018051.5(DYNC2I1):c.732A>G (p.Lys244=) rs369650727 0.00008
NM_018051.5(DYNC2I1):c.879+14T>C rs374526880 0.00007
NM_018051.5(DYNC2I1):c.1326T>C (p.Gly442=) rs532519011 0.00006
NM_018051.5(DYNC2I1):c.985C>T (p.Arg329Trp) rs201649000 0.00006
NM_018051.5(DYNC2I1):c.2154C>T (p.His718=) rs368500706 0.00005
NM_018051.5(DYNC2I1):c.582C>T (p.Tyr194=) rs368847195 0.00005
NM_018051.5(DYNC2I1):c.1017G>A (p.Val339=) rs1006424601 0.00004
NM_018051.5(DYNC2I1):c.2205T>C (p.Ser735=) rs201245664 0.00004
NM_018051.5(DYNC2I1):c.2433+19C>T rs759925860 0.00004
NM_018051.5(DYNC2I1):c.2904C>T (p.Ala968=) rs374305328 0.00004
NM_018051.5(DYNC2I1):c.876C>T (p.Ser292=) rs757328480 0.00004
NM_018051.5(DYNC2I1):c.105G>A (p.Lys35=) rs748373806 0.00003
NM_018051.5(DYNC2I1):c.16-6A>G rs543244299 0.00003
NM_018051.5(DYNC2I1):c.825C>T (p.Asn275=) rs370119780 0.00003
NM_018051.5(DYNC2I1):c.1357+13A>G rs752245321 0.00002
NM_018051.5(DYNC2I1):c.490+8C>G rs1045646527 0.00002
NM_018051.5(DYNC2I1):c.846G>T (p.Ser282=) rs1294563167 0.00002
NM_018051.5(DYNC2I1):c.1059+14G>A rs112908949 0.00001
NM_018051.5(DYNC2I1):c.1113A>G (p.Thr371=) rs1353546702 0.00001
NM_018051.5(DYNC2I1):c.1194A>G (p.Glu398=) rs753716236 0.00001
NM_018051.5(DYNC2I1):c.1287G>A (p.Arg429=) rs375910832 0.00001
NM_018051.5(DYNC2I1):c.1703-13del rs558243779 0.00001
NM_018051.5(DYNC2I1):c.1983C>T (p.His661=) rs570560884 0.00001
NM_018051.5(DYNC2I1):c.2247G>A (p.Thr749=) rs779502233 0.00001
NM_018051.5(DYNC2I1):c.2257+15C>T rs993369163 0.00001
NM_018051.5(DYNC2I1):c.2349T>C (p.Leu783=) rs1159300009 0.00001
NM_018051.5(DYNC2I1):c.2388C>A (p.Ser796=) rs758510154 0.00001
NM_018051.5(DYNC2I1):c.2781C>T (p.Ala927=) rs748457877 0.00001
NM_018051.5(DYNC2I1):c.2823C>T (p.Ser941=) rs762674535 0.00001
NM_018051.5(DYNC2I1):c.609G>A (p.Lys203=) rs760059618 0.00001
NM_018051.5(DYNC2I1):c.678A>G (p.Lys226=) rs759760480 0.00001
NM_018051.5(DYNC2I1):c.880-17A>G rs753464984 0.00001
NM_018051.5(DYNC2I1):c.936-19G>A rs752292407 0.00001
NM_018051.5(DYNC2I1):c.1059+17T>G
NM_018051.5(DYNC2I1):c.1059+18T>C
NM_018051.5(DYNC2I1):c.1060-18T>C
NM_018051.5(DYNC2I1):c.1113A>T (p.Thr371=)
NM_018051.5(DYNC2I1):c.1137+9A>G
NM_018051.5(DYNC2I1):c.1203A>C (p.Ser401=)
NM_018051.5(DYNC2I1):c.1357+11C>A rs201588197
NM_018051.5(DYNC2I1):c.1358-20T>C
NM_018051.5(DYNC2I1):c.1416A>C (p.Ser472=) rs1425014206
NM_018051.5(DYNC2I1):c.1460+10T>C rs768563970
NM_018051.5(DYNC2I1):c.1584C>G (p.Thr528=)
NM_018051.5(DYNC2I1):c.1590+11G>A
NM_018051.5(DYNC2I1):c.1591-9G>T
NM_018051.5(DYNC2I1):c.1593A>G (p.Ala531=) rs2129484908
NM_018051.5(DYNC2I1):c.16-13C>T rs2129477304
NM_018051.5(DYNC2I1):c.1605T>C (p.Cys535=)
NM_018051.5(DYNC2I1):c.1614T>C (p.Asp538=)
NM_018051.5(DYNC2I1):c.1638G>A (p.Thr546=)
NM_018051.5(DYNC2I1):c.1656G>A (p.Arg552=)
NM_018051.5(DYNC2I1):c.1680A>G (p.Gly560=)
NM_018051.5(DYNC2I1):c.1702+13T>C
NM_018051.5(DYNC2I1):c.1703-11G>T rs1349093711
NM_018051.5(DYNC2I1):c.1755T>C (p.Thr585=) rs372205758
NM_018051.5(DYNC2I1):c.1776G>A (p.Leu592=)
NM_018051.5(DYNC2I1):c.1792-19A>T
NM_018051.5(DYNC2I1):c.180C>G (p.Pro60=) rs754304837
NM_018051.5(DYNC2I1):c.180C>T (p.Pro60=)
NM_018051.5(DYNC2I1):c.1839C>T (p.Ser613=) rs1848734445
NM_018051.5(DYNC2I1):c.1848T>C (p.Leu616=)
NM_018051.5(DYNC2I1):c.1902C>T (p.Thr634=)
NM_018051.5(DYNC2I1):c.1911A>G (p.Pro637=)
NM_018051.5(DYNC2I1):c.1911A>T (p.Pro637=)
NM_018051.5(DYNC2I1):c.1921+18A>C
NM_018051.5(DYNC2I1):c.1921+8G>T
NM_018051.5(DYNC2I1):c.1962G>A (p.Arg654=)
NM_018051.5(DYNC2I1):c.1992C>T (p.Pro664=)
NM_018051.5(DYNC2I1):c.2061A>G (p.Ser687=)
NM_018051.5(DYNC2I1):c.2091C>T (p.Ser697=)
NM_018051.5(DYNC2I1):c.2094+12G>C
NM_018051.5(DYNC2I1):c.2095-7C>T
NM_018051.5(DYNC2I1):c.2139T>C (p.Phe713=)
NM_018051.5(DYNC2I1):c.2142C>T (p.Ala714=)
NM_018051.5(DYNC2I1):c.2211G>A (p.Thr737=)
NM_018051.5(DYNC2I1):c.2217C>T (p.Ser739=)
NM_018051.5(DYNC2I1):c.2232G>A (p.Thr744=)
NM_018051.5(DYNC2I1):c.2232G>T (p.Thr744=) rs751401798
NM_018051.5(DYNC2I1):c.2241C>T (p.Thr747=)
NM_018051.5(DYNC2I1):c.2247G>C (p.Thr749=)
NM_018051.5(DYNC2I1):c.225C>T (p.Thr75=)
NM_018051.5(DYNC2I1):c.2310T>A (p.Pro770=)
NM_018051.5(DYNC2I1):c.2334G>A (p.Lys778=)
NM_018051.5(DYNC2I1):c.2371+16C>T
NM_018051.5(DYNC2I1):c.2372-21_2372-18del
NM_018051.5(DYNC2I1):c.2427T>C (p.Asn809=)
NM_018051.5(DYNC2I1):c.2433+20G>A
NM_018051.5(DYNC2I1):c.2433+7_2433+10dup
NM_018051.5(DYNC2I1):c.2434-11del
NM_018051.5(DYNC2I1):c.2434-19T>C
NM_018051.5(DYNC2I1):c.2439T>G (p.Val813=)
NM_018051.5(DYNC2I1):c.2457A>G (p.Ala819=)
NM_018051.5(DYNC2I1):c.2485+16A>G
NM_018051.5(DYNC2I1):c.2486-4T>G
NM_018051.5(DYNC2I1):c.2547-10_2547-6del rs1850505967
NM_018051.5(DYNC2I1):c.2568A>G (p.Glu856=)
NM_018051.5(DYNC2I1):c.2583A>G (p.Thr861=)
NM_018051.5(DYNC2I1):c.2637C>T (p.Gly879=)
NM_018051.5(DYNC2I1):c.2646+9T>C
NM_018051.5(DYNC2I1):c.2647-8C>T
NM_018051.5(DYNC2I1):c.2694A>G (p.Lys898=) rs2129487917
NM_018051.5(DYNC2I1):c.2695C>T (p.Leu899=)
NM_018051.5(DYNC2I1):c.2778+17_2778+18del
NM_018051.5(DYNC2I1):c.2779-5C>T
NM_018051.5(DYNC2I1):c.2790G>A (p.Ser930=)
NM_018051.5(DYNC2I1):c.2856G>A (p.Thr952=)
NM_018051.5(DYNC2I1):c.2874C>T (p.Thr958=)
NM_018051.5(DYNC2I1):c.2937C>T (p.Ile979=)
NM_018051.5(DYNC2I1):c.2961C>T (p.Ser987=)
NM_018051.5(DYNC2I1):c.3003-13C>T
NM_018051.5(DYNC2I1):c.3006G>A (p.Leu1002=)
NM_018051.5(DYNC2I1):c.300G>A (p.Glu100=)
NM_018051.5(DYNC2I1):c.303A>G (p.Lys101=)
NM_018051.5(DYNC2I1):c.3078G>A (p.Ala1026=)
NM_018051.5(DYNC2I1):c.3088A>G (p.Ile1030Val)
NM_018051.5(DYNC2I1):c.3105G>C (p.Leu1035=) rs1585268610
NM_018051.5(DYNC2I1):c.3147G>A (p.Arg1049=)
NM_018051.5(DYNC2I1):c.351A>G (p.Arg117=)
NM_018051.5(DYNC2I1):c.411C>G (p.Thr137=)
NM_018051.5(DYNC2I1):c.457C>T (p.Leu153Phe)
NM_018051.5(DYNC2I1):c.471G>A (p.Ala157=) rs375082266
NM_018051.5(DYNC2I1):c.471G>C (p.Ala157=) rs375082266
NM_018051.5(DYNC2I1):c.490+11G>A rs530105342
NM_018051.5(DYNC2I1):c.490+11G>T rs530105342
NM_018051.5(DYNC2I1):c.491-10C>T
NM_018051.5(DYNC2I1):c.491-17T>C
NM_018051.5(DYNC2I1):c.573+14G>A
NM_018051.5(DYNC2I1):c.574-11G>A
NM_018051.5(DYNC2I1):c.574-9G>A
NM_018051.5(DYNC2I1):c.600C>T (p.Asn200=)
NM_018051.5(DYNC2I1):c.606C>G (p.Leu202=)
NM_018051.5(DYNC2I1):c.672C>T (p.Asp224=)
NM_018051.5(DYNC2I1):c.69+15G>A
NM_018051.5(DYNC2I1):c.69+7A>G rs1554441632
NM_018051.5(DYNC2I1):c.70-20C>A
NM_018051.5(DYNC2I1):c.705A>G (p.Glu235=)
NM_018051.5(DYNC2I1):c.879+10C>G
NM_018051.5(DYNC2I1):c.879+11_879+19del
NM_018051.5(DYNC2I1):c.879+17T>C
NM_018051.5(DYNC2I1):c.879+19C>T
NM_018051.5(DYNC2I1):c.879+20G>A
NM_018051.5(DYNC2I1):c.900A>G (p.Arg300=)
NM_018051.5(DYNC2I1):c.902G>T (p.Gly301Val) rs140596100
NM_018051.5(DYNC2I1):c.936-16T>G
NM_018051.5(DYNC2I1):c.990+15A>G
NM_018051.5(DYNC2I1):c.991-13C>A rs2129482378

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