ClinVar Miner

List of variants reported as benign for Jeune syndrome by Illumina Laboratory Services, Illumina

Included ClinVar conditions (45):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 273
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HGVS dbSNP gnomAD frequency
NM_020779.4(WDR35):c.2824-14G>T rs1191779 0.96807
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_001199397.3(NEK1):c.*165G>A rs4692721 0.91298
NM_153717.3(EVC):c.*2417T>C rs6848370 0.75819
NM_001377.3(DYNC2H1):c.8612G>A (p.Arg2871Gln) rs589623 0.75293
NM_153717.3(EVC):c.2305-8T>C rs1031919 0.72106
NM_153717.3(EVC):c.772T>C (p.Tyr258His) rs6414624 0.72068
NM_153717.3(EVC):c.939+10A>G rs2286342 0.67122
NM_001377.3(DYNC2H1):c.4238A>G (p.Lys1413Arg) rs688906 0.66697
NM_001377.3(DYNC2H1):c.6951C>T (p.His2317=) rs586592 0.64171
NM_147127.5(EVC2):c.*384T>A rs2287576 0.63456
NM_024753.5(TTC21B):c.601G>A (p.Val201Met) rs1432273 0.61903
NM_153717.3(EVC):c.*14G>A rs2291151 0.61437
NM_153717.3(EVC):c.802-15C>T rs4689313 0.60798
NM_001377.3(DYNC2H1):c.6711A>G (p.Arg2237=) rs658804 0.59243
NM_153717.3(EVC):c.*931T>C rs6840435 0.56030
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.*229C>T rs7564 0.52060
NM_001377.3(DYNC2H1):c.12366+7G>A rs10895417 0.51079
NM_147127.5(EVC2):c.2095A>G (p.Thr699Ala) rs730469 0.45556
NM_020779.4(WDR35):c.2496A>G (p.Glu832=) rs6741091 0.45165
NM_014714.4(IFT140):c.-17G>C rs1894649 0.44364
NM_014714.4(IFT140):c.1968T>C (p.Ser656=) rs8048410 0.42981
NM_153717.3(EVC):c.*2617G>A rs3733186 0.41865
NM_153717.3(EVC):c.*2713C>T rs3733188 0.41663
NM_153717.3(EVC):c.969T>C (p.Asn323=) rs4688963 0.40746
NM_001377.3(DYNC2H1):c.10043-15G>T rs648387 0.39966
NM_001199397.3(NEK1):c.*495T>C rs1129694 0.37477
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_020800.3(IFT80):c.1756A>T (p.Thr586Ser) rs6778728 0.31629
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_147127.5(EVC2):c.1437A>G (p.Glu479=) rs13131655 0.27893
NM_153717.3(EVC):c.1068A>G (p.Leu356=) rs33929747 0.26691
NM_153717.3(EVC):c.*2268G>A rs4261923 0.25768
NM_020779.4(WDR35):c.*523G>A rs957614 0.25621
NM_020779.4(WDR35):c.*231C>A rs1056233 0.25618
NM_024753.5(TTC21B):c.*1105G>T rs6756388 0.23631
NM_147127.5(EVC2):c.688A>G (p.Ser230Gly) rs4689278 0.21710
NM_153717.3(EVC):c.*1318G>C rs67547790 0.21091
NM_001377.3(DYNC2H1):c.10773G>A (p.Thr3591=) rs12574626 0.19492
NM_014714.4(IFT140):c.2919C>T (p.Ala973=) rs2235640 0.19119
NM_014714.4(IFT140):c.635-12G>C rs12447357 0.18304
NM_147127.5(EVC2):c.52C>T (p.Leu18Phe) rs6820907 0.17921
NM_020800.3(IFT80):c.1926+13T>C rs3737214 0.17528
NM_001199397.3(NEK1):c.*710A>G rs13212 0.17144
NM_024753.5(TTC21B):c.*517G>A rs77199262 0.16849
NM_024753.5(TTC21B):c.*531A>G rs56115495 0.16645
NM_020800.3(IFT80):c.*42G>A rs16831149 0.16470
NM_153717.3(EVC):c.*748T>C rs62297707 0.13967
NM_001377.3(DYNC2H1):c.11649+12C>A rs79978663 0.13559
NM_153717.3(EVC):c.*210C>A rs16837692 0.13049
NM_153717.3(EVC):c.*1218C>T rs12501119 0.13032
NM_153717.3(EVC):c.*3165T>C rs3755847 0.12593
NM_153717.3(EVC):c.*2680G>A rs3733187 0.12188
NM_153717.3(EVC):c.*2871C>T rs3733189 0.12083
NM_025132.4(WDR19):c.852A>G (p.Ser284=) rs17584431 0.11533
NM_147127.5(EVC2):c.2061T>C (p.Arg687=) rs73198153 0.11242
NM_147127.5(EVC2):c.519+15G>A rs17688121 0.11080
NM_024753.5(TTC21B):c.*878A>G rs62177807 0.11039
NM_001377.3(DYNC2H1):c.6420T>C (p.Asn2140=) rs11225584 0.10418
NM_020779.4(WDR35):c.3121+12A>C rs28502265 0.10214
NM_020779.4(WDR35):c.*1050T>C rs10197890 0.10201
NM_020779.4(WDR35):c.*98T>C rs6748924 0.10155
NM_001377.3(DYNC2H1):c.8580A>G (p.Glu2860=) rs17394217 0.10011
NM_153717.3(EVC):c.249A>G (p.Ser83=) rs35870680 0.09998
NM_001199397.3(NEK1):c.2255A>G (p.Glu752Gly) rs34099167 0.09622
NM_001199397.3(NEK1):c.3033G>A (p.Pro1011=) rs7655924 0.09091
NM_024753.4(TTC21B):c.-145G>A rs111867313 0.09068
NM_001377.3(DYNC2H1):c.5558+4A>G rs11225578 0.09042
NM_001377.3(DYNC2H1):c.1021C>T (p.His341Tyr) rs17301182 0.08896
NM_001377.3(DYNC2H1):c.3862A>G (p.Thr1288Ala) rs17301750 0.08745
NM_147127.5(EVC2):c.2235A>G (p.Glu745=) rs60121553 0.08440
NM_014714.4(IFT140):c.1192G>A (p.Val398Ile) rs34762152 0.08326
NM_020779.4(WDR35):c.*2463C>T rs3731661 0.07941
NM_153717.3(EVC):c.221A>C (p.Gln74Pro) rs2291157 0.07908
NM_001199397.3(NEK1):c.1068G>A (p.Arg356=) rs17055010 0.07760
NM_001199397.3(NEK1):c.-528G>A rs75976017 0.07715
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_147127.5(EVC2):c.-15G>A rs76269601 0.07112
NM_001377.3(DYNC2H1):c.12457-6C>T rs11225812 0.07031
NM_147127.5(EVC2):c.2046+5A>G rs6850875 0.06860
NM_153717.3(EVC):c.*2009T>C rs79152885 0.06541
NM_153717.3(EVC):c.*53T>C rs7676531 0.06533
NM_001377.3(DYNC2H1):c.21C>T (p.Asp7=) rs17301028 0.06471
NM_153717.3(EVC):c.1115C>T (p.Thr372Met) rs28483498 0.06438
NM_001199397.3(NEK1):c.1146T>C (p.Ile382=) rs56064008 0.06017
NM_153717.3(EVC):c.341C>T (p.Ala114Val) rs16837598 0.05943
NM_001199397.3(NEK1):c.1830A>G (p.Glu610=) rs17544885 0.05849
NM_020779.4(WDR35):c.2599G>A (p.Ala867Thr) rs2293669 0.05563
NM_147127.5(EVC2):c.3253C>T (p.Leu1085=) rs112554914 0.05240
NM_001199397.3(NEK1):c.1876G>A (p.Ala626Thr) rs33933790 0.05183
NM_014714.4(IFT140):c.1862G>A (p.Arg621Gln) rs11648609 0.05163
NM_020779.4(WDR35):c.*1489G>A rs10182866 0.05128
NM_014714.4(IFT140):c.3209C>T (p.Ala1070Val) rs2235638 0.05119
NM_025132.4(WDR19):c.-9A>G rs60800612 0.05032
NM_001377.3(DYNC2H1):c.911A>T (p.Gln304Leu) rs12146610 0.04434
NM_020779.4(WDR35):c.*1127A>G rs75503594 0.04161
NM_024753.5(TTC21B):c.2211+13A>G rs73969727 0.04080
NM_025132.4(WDR19):c.910G>A (p.Val304Ile) rs75964850 0.03961
NM_153717.3(EVC):c.*908G>A rs13119698 0.03897
NM_001199397.3(NEK1):c.1388C>T (p.Ala463Val) rs34540355 0.03694
NM_020779.4(WDR35):c.*2957G>A rs76072774 0.03646
NM_020779.4(WDR35):c.549C>T (p.Tyr183=) rs34169020 0.03645
NM_025132.4(WDR19):c.3250G>A (p.Gly1084Ser) rs16995209 0.03548
NM_153717.3(EVC):c.1096C>T (p.Leu366=) rs6854138 0.03243
NM_001377.3(DYNC2H1):c.2454G>A (p.Glu818=) rs77738279 0.03138
NM_147127.5(EVC2):c.3023C>T (p.Ser1008Leu) rs60809236 0.03040
NM_001377.3(DYNC2H1):c.9353+7G>A rs78309870 0.02821
NM_024753.5(TTC21B):c.*105G>A rs74548052 0.02812
NM_153717.3(EVC):c.939+11G>T rs55955937 0.02788
NM_014714.4(IFT140):c.1352C>T (p.Ala451Val) rs8060532 0.02699
NM_014714.4(IFT140):c.1682G>A (p.Ser561Asn) rs8050974 0.02675
NM_147127.5(EVC2):c.1059C>T (p.Gly353=) rs77793386 0.02666
NM_153717.3(EVC):c.*1060A>C rs71599848 0.02627
NM_014714.4(IFT140):c.492-14G>A rs75359189 0.02409
NM_020800.3(IFT80):c.462G>A (p.Ala154=) rs34182424 0.02371
NM_001377.3(DYNC2H1):c.4728C>G (p.Asn1576Lys) rs72989738 0.02353
NM_014714.4(IFT140):c.1918G>A (p.Asp640Asn) rs61742753 0.02347
NM_153717.3(EVC):c.*1375A>G rs114994758 0.02309
NM_014714.4(IFT140):c.4380C>T (p.Asp1460=) rs61749517 0.02245
NM_001377.3(DYNC2H1):c.1367G>A (p.Arg456Gln) rs17099969 0.02244
NM_014714.4(IFT140):c.839G>A (p.Arg280Gln) rs35404373 0.02210
NM_014714.4(IFT140):c.2008C>T (p.Pro670Ser) rs34900355 0.02198
NM_147127.5(EVC2):c.3557+10G>A rs116218656 0.02138
NM_020779.4(WDR35):c.*2836C>T rs74469198 0.02096
NM_020800.3(IFT80):c.-40C>T rs79756374 0.01997
NM_014714.4(IFT140):c.838C>T (p.Arg280Trp) rs8058674 0.01985
NM_020779.4(WDR35):c.*2408G>C rs112569580 0.01898
NM_014714.4(IFT140):c.2454C>T (p.Asp818=) rs34668993 0.01885
NM_025132.4(WDR19):c.1357-10T>C rs16995189 0.01827
NM_001377.3(DYNC2H1):c.4068C>T (p.Phe1356=) rs74713170 0.01817
NM_020779.4(WDR35):c.*3268C>T rs113280329 0.01807
NM_020779.4(WDR35):c.*1479C>T rs77400381 0.01800
NM_001377.3(DYNC2H1):c.2818+13T>C rs150786504 0.01790
NM_153717.3(EVC):c.*2277G>C rs28452978 0.01778
NM_024753.5(TTC21B):c.1417C>T (p.Leu473Phe) rs2163649 0.01776
NM_014714.4(IFT140):c.3743T>C (p.Ile1248Thr) rs79494390 0.01709
NM_001377.3(DYNC2H1):c.645A>G (p.Leu215=) rs116666272 0.01688
NM_153717.3(EVC):c.*1849C>G rs75438311 0.01645
NM_024753.5(TTC21B):c.2334C>T (p.Tyr778=) rs79656636 0.01606
NM_153717.3(EVC):c.*615C>T rs73079505 0.01604
NM_153717.3(EVC):c.*1083T>G rs71599850 0.01599
NM_001199397.3(NEK1):c.2764+12T>A rs77658514 0.01594
NM_001377.3(DYNC2H1):c.3660T>C (p.Pro1220=) rs118191062 0.01583
NM_001377.3(DYNC2H1):c.10461A>G (p.Gln3487=) rs75143468 0.01568
NM_153717.3(EVC):c.*820C>T rs137860758 0.01565
NM_001377.3(DYNC2H1):c.7122G>A (p.Leu2374=) rs116574613 0.01532
NM_147127.5(EVC2):c.3040C>G (p.Leu1014Val) rs75829835 0.01478
NM_001377.3(DYNC2H1):c.-94G>T rs114993913 0.01448
NM_153717.3(EVC):c.2279G>A (p.Arg760Gln) rs2279252 0.01416
NM_024753.5(TTC21B):c.1387C>T (p.Pro463Ser) rs16851307 0.01408
NM_001377.3(DYNC2H1):c.1233A>G (p.Gln411=) rs116888435 0.01403
NM_020779.4(WDR35):c.*1129C>T rs76845713 0.01385
NM_024753.5(TTC21B):c.2385G>C (p.Leu795=) rs80225158 0.01377
NM_001199397.3(NEK1):c.*154G>A rs139328912 0.01356
NM_001377.3(DYNC2H1):c.10479C>G (p.Leu3493=) rs151056947 0.01339
NM_020779.4(WDR35):c.*553G>T rs79153401 0.01323
NM_014714.4(IFT140):c.2330T>G (p.Leu777Arg) rs34535263 0.01269
NM_147127.5(EVC2):c.1384A>G (p.Thr462Ala) rs73063795 0.01215
NM_001377.3(DYNC2H1):c.195+7T>C rs112718117 0.01205
NM_001377.3(DYNC2H1):c.2860G>A (p.Glu954Lys) rs61898615 0.01194
NM_153717.3(EVC):c.*1700C>T rs74690944 0.01179
NM_153717.3(EVC):c.1464+8A>G rs116236414 0.01163
NM_153717.3(EVC):c.2373G>A (p.Gln791=) rs73795089 0.01161
NM_153717.3(EVC):c.2363G>A (p.Arg788His) rs73795088 0.01159
NM_014714.4(IFT140):c.3990G>A (p.Ala1330=) rs61745103 0.01137
NM_020779.4(WDR35):c.3019C>T (p.Arg1007Cys) rs56395266 0.01130
NM_001377.3(DYNC2H1):c.12865G>C (p.Gly4289Arg) rs144717489 0.01113
NM_001377.3(DYNC2H1):c.6478-6C>T rs114254215 0.01103
NM_024753.5(TTC21B):c.2742C>T (p.Cys914=) rs73018799 0.01072
NM_024753.5(TTC21B):c.*974C>G rs145794135 0.01001
NM_153717.3(EVC):c.2872G>A (p.Asp958Asn) rs35287723 0.00977
NM_153717.3(EVC):c.2505G>A (p.Ser835=) rs115976359 0.00969
NM_012224.2(NEK1):c.-640T>G rs549272215 0.00924
NM_025132.4(WDR19):c.1607G>C (p.Ser536Thr) rs115348383 0.00917
NM_147127.5(EVC2):c.1311A>G (p.Leu437=) rs77131452 0.00904
NM_025132.4(WDR19):c.2096G>A (p.Arg699Gln) rs138529452 0.00883
NM_147127.5(EVC2):c.692A>G (p.Lys231Arg) rs114024753 0.00863
NM_147127.5(EVC2):c.3138C>G (p.Ser1046Arg) rs73074138 0.00851
NM_025132.4(WDR19):c.1581C>A (p.Thr527=) rs114689848 0.00847
NM_020779.4(WDR35):c.1089G>A (p.Thr363=) rs79829477 0.00817
NM_024753.5(TTC21B):c.1965G>A (p.Arg655=) rs16822802 0.00798
NM_147127.5(EVC2):c.*394A>G rs138063943 0.00784
NM_020800.3(IFT80):c.1076C>T (p.Ser359Phe) rs144099135 0.00760
NM_153717.3(EVC):c.1320T>A (p.Phe440Leu) rs60582583 0.00733
NM_014714.4(IFT140):c.322G>A (p.Val108Met) rs146128830 0.00695
NM_001377.3(DYNC2H1):c.12254G>A (p.Arg4085His) rs115480556 0.00689
NM_153717.3(EVC):c.780G>A (p.Lys260=) rs41269555 0.00676
NM_147127.5(EVC2):c.1198A>G (p.Thr400Ala) rs138972736 0.00672
NM_147127.5(EVC2):c.2707-5T>C rs186058156 0.00650
NM_001377.3(DYNC2H1):c.10834G>C (p.Asp3612His) rs116872934 0.00628
NM_024753.5(TTC21B):c.1870A>G (p.Ile624Val) rs77106136 0.00617
NM_014714.4(IFT140):c.2550C>T (p.Ala850=) rs2745180 0.00615
NM_020779.4(WDR35):c.*1406A>G rs10197681 0.00613
NM_001377.3(DYNC2H1):c.12007G>A (p.Ala4003Thr) rs61737514 0.00612
NM_001377.3(DYNC2H1):c.11703C>T (p.Asn3901=) rs144624858 0.00606
NM_001377.3(DYNC2H1):c.10966A>G (p.Met3656Val) rs151156076 0.00599
NM_147127.5(EVC2):c.1730T>C (p.Met577Thr) rs113869406 0.00570
NM_001377.3(DYNC2H1):c.11726-10A>T rs185916947 0.00561
NM_001199397.3(NEK1):c.3624T>C (p.Asp1208=) rs55740606 0.00560
NM_001377.3(DYNC2H1):c.11238C>T (p.Ser3746=) rs78599571 0.00555
NM_014714.4(IFT140):c.1524+3A>G rs149791451 0.00552
NM_014714.4(IFT140):c.4040+10C>T rs138364426 0.00542
NM_153717.3(EVC):c.*2132A>G rs11939264 0.00524
NM_147127.5(EVC2):c.814C>T (p.Arg272Trp) rs114142742 0.00521
NM_147127.5(EVC2):c.2863C>T (p.Arg955Trp) rs116502852 0.00513
NM_147127.5(EVC2):c.1845C>T (p.Thr615=) rs112747818 0.00512
NM_147127.5(EVC2):c.675A>G (p.Gly225=) rs74930168 0.00463
NM_153717.3(EVC):c.*2708G>A rs79112570 0.00424
NM_147127.5(EVC2):c.307T>C (p.Leu103=) rs140877783 0.00416
NM_147127.5(EVC2):c.3561A>G (p.Lys1187=) rs76523157 0.00388
NM_020800.3(IFT80):c.*1204G>A rs144132950 0.00376
NM_147127.5(EVC2):c.3375A>G (p.Ala1125=) rs116076068 0.00366
NM_001199397.3(NEK1):c.*551A>T rs181225797 0.00360
NM_153717.3(EVC):c.1855G>A (p.Val619Ile) rs111293777 0.00354
NM_153717.3(EVC):c.*2285C>G rs145479436 0.00352
NM_001377.3(DYNC2H1):c.8881G>A (p.Ala2961Thr) rs199568537 0.00317
NM_153717.3(EVC):c.*1185A>G rs113728951 0.00308
NM_001199397.3(NEK1):c.3285C>T (p.Pro1095=) rs140408058 0.00301
NM_012224.2(NEK1):c.-654C>T rs72694709 0.00295
NM_014714.4(IFT140):c.3079G>A (p.Gly1027Arg) rs137995818 0.00236
NM_147127.5(EVC2):c.2151C>T (p.His717=) rs144584049 0.00220
NM_024753.5(TTC21B):c.1676T>G (p.Val559Gly) rs149325238 0.00190
NM_020779.4(WDR35):c.2566G>T (p.Val856Phe) rs149667250 0.00188
NM_147127.5(EVC2):c.2487G>A (p.Glu829=) rs16837501 0.00165
NM_153717.3(EVC):c.1333A>C (p.Lys445Gln) rs116952023 0.00150
NM_147127.5(EVC2):c.2394G>A (p.Arg798=) rs147173201 0.00149
NM_147127.5(EVC2):c.2395G>C (p.Asp799His) rs143491078 0.00149
NM_020779.4(WDR35):c.*2623T>C rs538967974 0.00121
NM_020779.4(WDR35):c.*2622A>G rs558837510 0.00116
NM_020779.4(WDR35):c.2149A>G (p.Ile717Val) rs144493712 0.00089
NM_001377.3(DYNC2H1):c.*211A>G rs148091830 0.00083
NM_014714.4(IFT140):c.1083C>T (p.Pro361=) rs143014223 0.00077
NM_025132.4(WDR19):c.3416A>G (p.Gln1139Arg) rs75621037 0.00065
NM_001377.3(DYNC2H1):c.7143A>G (p.Val2381=) rs79832792 0.00057
NM_020779.4(WDR35):c.*487C>T rs116951767 0.00056
NM_014714.4(IFT140):c.3988G>A (p.Ala1330Thr) rs200699325 0.00050
NM_014714.4(IFT140):c.*235C>A rs184405274 0.00040
NM_147127.5(EVC2):c.1882G>A (p.Glu628Lys) rs186197620 0.00034
NM_014714.4(IFT140):c.2742C>T (p.Ser914=) rs374793763 0.00016
NM_020779.4(WDR35):c.765C>T (p.Tyr255=) rs117255034 0.00013
NM_153717.3(EVC):c.473C>G (p.Ser158Cys) rs150284356 0.00011
NM_153717.3(EVC):c.*2466G>A rs572400824 0.00006
NM_147127.5(EVC2):c.1040C>T (p.Pro347Leu) rs199708349 0.00004
NM_153717.3(EVC):c.*1648T>C rs371788560 0.00004
NM_153717.3(EVC):c.1428G>C (p.Glu476Asp) rs571637567 0.00001
NM_001377.3(DYNC2H1):c.10164T>G (p.Thr3388=) rs11225634
NM_001377.3(DYNC2H1):c.7540+14G>A rs115273161
NM_012224.2(NEK1):c.-614C>A rs10520157
NM_014714.4(IFT140):c.459G>T (p.Thr153=) rs61739554
NM_014714.4(IFT140):c.836G>C (p.Arg279Pro) rs4786350
NM_020779.4(WDR35):c.*978A>G rs149444449
NM_020779.4(WDR35):c.1058G>C (p.Arg353Pro) rs76623454
NM_024753.5(TTC21B):c.114C>G (p.Val38=) rs34486024
NM_024753.5(TTC21B):c.3519T>C (p.Thr1173=) rs115504901
NM_153717.3(EVC):c.*1845del rs397690241
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
NM_153717.3(EVC):c.2562-4C>G rs60082311

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