ClinVar Miner

List of variants reported as likely pathogenic for Jeune syndrome by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (45):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 49
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HGVS dbSNP gnomAD frequency
NM_001377.3(DYNC2H1):c.5983G>A (p.Ala1995Thr) rs552436294 0.00011
NM_014714.4(IFT140):c.3939C>A (p.Cys1313Ter) rs1002670900 0.00006
NM_147127.5(EVC2):c.1024A>T (p.Lys342Ter) rs767072839 0.00006
NM_014714.4(IFT140):c.1901+1G>T rs375910993 0.00003
NM_024753.5(TTC21B):c.2758-2A>G rs766132877 0.00003
NM_015662.3(IFT172):c.402+2T>G rs774548930 0.00002
NM_024753.5(TTC21B):c.1386+1G>T rs764514397 0.00002
NM_024753.5(TTC21B):c.2482dup (p.Met828fs) rs906032090 0.00002
NM_001199397.3(NEK1):c.2588-2A>G rs201769828 0.00001
NM_014714.4(IFT140):c.1451C>T (p.Thr484Met) rs758052634 0.00001
NM_014714.4(IFT140):c.2578-2A>G rs2040685752 0.00001
NM_014714.4(IFT140):c.2598C>G (p.Tyr866Ter) rs144513458 0.00001
NM_014714.4(IFT140):c.3214C>T (p.Arg1072Ter) rs1432688490 0.00001
NM_014714.4(IFT140):c.3874-1G>A rs749563050 0.00001
NM_015662.3(IFT172):c.1525-1G>A rs370540673 0.00001
NM_015662.3(IFT172):c.2536C>T (p.Arg846Ter) rs761095604 0.00001
NM_015662.3(IFT172):c.3793G>T (p.Glu1265Ter) rs999731005 0.00001
NM_015662.3(IFT172):c.4519C>T (p.Arg1507Ter) rs150246251 0.00001
NM_015662.3(IFT172):c.4630C>T (p.Arg1544Cys) rs587777079 0.00001
NM_024753.5(TTC21B):c.1087+1G>A rs776301212 0.00001
NM_024753.5(TTC21B):c.1377T>A (p.Cys459Ter) rs1183062277 0.00001
NM_024753.5(TTC21B):c.1546C>T (p.Gln516Ter) rs779134983 0.00001
NM_024753.5(TTC21B):c.3102-2A>G rs779472675 0.00001
NM_025132.4(WDR19):c.1623C>G (p.Tyr541Ter) rs771148519 0.00001
NM_025132.4(WDR19):c.2363+1G>A rs886041912 0.00001
NM_025132.4(WDR19):c.3703G>A (p.Glu1235Lys) rs587777351 0.00001
NM_147127.5(EVC2):c.706+2T>C rs1360260333 0.00001
NM_147127.5(EVC2):c.893del (p.His298fs) rs777505711 0.00001
NM_014714.4(IFT140):c.1359_1359+3delinsAC rs2141816540
NM_014714.4(IFT140):c.2068-2A>G rs1489989834
NM_014714.4(IFT140):c.2214_2217del (p.Asp738fs) rs1415763185
NM_014714.4(IFT140):c.240G>A (p.Trp80Ter) rs1471379682
NM_014714.4(IFT140):c.2655del (p.Trp885fs) rs762111572
NM_014714.4(IFT140):c.2671del (p.Gln890_Val891insTer) rs2141179932
NM_014714.4(IFT140):c.2948del (p.Asp983fs) rs2141172226
NM_014714.4(IFT140):c.3408_3409del (p.His1136fs) rs765669703
NM_015662.3(IFT172):c.5044C>T (p.Arg1682Ter) rs1329856696
NM_024753.5(TTC21B):c.3340C>T (p.Gln1114Ter) rs1685080096
NM_025132.4(WDR19):c.2485C>T (p.Arg829Ter) rs775181779
NM_025132.4(WDR19):c.2601_2602dup (p.Tyr868fs) rs1421636172
NM_025132.4(WDR19):c.3319C>T (p.Gln1107Ter) rs1401145684
NM_025132.4(WDR19):c.961+2T>C rs1728876351
NM_052844.4(DYNC2I2):c.1312_1313del (p.Leu438fs) rs753802842
NM_147127.5(EVC2):c.1967T>A (p.Leu656Ter) rs1367694162
NM_147127.5(EVC2):c.2047-2A>G rs1553833239
NM_147127.5(EVC2):c.2368C>T (p.Gln790Ter) rs1577170055
NM_147127.5(EVC2):c.821_824del (p.Arg274fs) rs1368193719
NM_153717.3(EVC):c.2449+1G>A rs1553893423
NM_153717.3(EVC):c.901AAG[1] (p.Lys302del) rs755381180

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