ClinVar Miner

List of variants reported as benign for Ellis-van Creveld syndrome

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Total variants: 122
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HGVS dbSNP gnomAD frequency
NM_153717.3(EVC):c.769C>T (p.Leu257=) rs6446393 0.95639
NM_153717.3(EVC):c.*2417T>C rs6848370 0.75819
NM_153717.3(EVC):c.772T>C (p.Tyr258His) rs6414624 0.72808
NM_153717.3(EVC):c.2305-8T>C rs1031919 0.72106
NM_153717.3(EVC):c.2894+18A>G rs2279250 0.71896
NM_153717.3(EVC):c.939+10A>G rs2286342 0.67122
NM_147127.5(EVC2):c.*384T>A rs2287576 0.63456
NM_153717.3(EVC):c.*14G>A rs2291151 0.61437
NM_153717.3(EVC):c.802-15C>T rs4689313 0.60306
NM_153717.3(EVC):c.*931T>C rs6840435 0.56438
NM_153717.3(EVC):c.939+63C>A rs13145958 0.55696
NM_153717.3(EVC):c.1026G>C (p.Leu342=) rs4688962 0.52761
NM_153717.3(EVC):c.1098+51A>T rs4688961 0.52726
NM_147127.5(EVC2):c.2095A>G (p.Thr699Ala) rs730469 0.45556
NM_153717.3(EVC):c.*2617G>A rs3733186 0.41933
NM_153717.3(EVC):c.*2713C>T rs3733188 0.41663
NM_153717.3(EVC):c.969T>C (p.Asn323=) rs4688963 0.40746
NM_153717.3(EVC):c.1099-19T>C rs899691 0.37351
NM_153717.3(EVC):c.939+4C>T rs2286343 0.33466
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.1563+1771A>G rs6828631 0.27077
NM_153717.3(EVC):c.1068A>G (p.Leu356=) rs33929747 0.26691
NM_153717.3(EVC):c.*2268G>A rs4261923 0.26298
NM_147127.5(EVC2):c.688A>G (p.Ser230Gly) rs4689278 0.22179
NM_153717.3(EVC):c.939+114G>A rs28609792 0.21365
NM_153717.3(EVC):c.*1318G>C rs67547790 0.21125
NM_153717.3(EVC):c.801+240C>T rs1480169 0.20327
NM_153717.3(EVC):c.1465-47A>C rs4642178 0.20086
NM_147127.5(EVC2):c.52C>T (p.Leu18Phe) rs6820907 0.17742
NM_153717.3(EVC):c.301-80G>A rs2276875 0.17248
NM_153717.3(EVC):c.1563+1897C>T rs56328334 0.16475
NM_153717.3(EVC):c.*748T>C rs62297707 0.13967
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 0.11820
NM_147127.5(EVC2):c.2061T>C (p.Arg687=) rs73198153 0.11242
NM_147127.5(EVC2):c.519+15G>A rs17688121 0.11080
NM_153717.3(EVC):c.249A>G (p.Ser83=) rs35870680 0.10006
NM_153717.3(EVC):c.618-121G>A rs75063475 0.08996
NM_153717.3(EVC):c.384+41C>T rs113870218 0.08516
NM_147127.5(EVC2):c.2235A>G (p.Glu745=) rs60121553 0.08440
NM_153717.3(EVC):c.221A>C (p.Gln74Pro) rs2291157 0.07908
NM_147127.5(EVC2):c.-15G>A rs76269601 0.07552
NM_153717.3(EVC):c.1328G>A (p.Arg443Gln) rs35953626 0.07232
NM_153717.3(EVC):c.*2009T>C rs79152885 0.06541
NM_153717.3(EVC):c.*53T>C rs7676531 0.06533
NM_153717.3(EVC):c.1115C>T (p.Thr372Met) rs28483498 0.06438
NM_147127.5(EVC2):c.2046+5A>G rs6850875 0.06424
NM_153717.3(EVC):c.341C>T (p.Ala114Val) rs16837598 0.05943
NM_147127.5(EVC2):c.3253C>T (p.Leu1085=) rs112554914 0.05194
NM_153717.3(EVC):c.*908G>A rs13119698 0.03897
NM_147127.5(EVC2):c.3023C>T (p.Ser1008Leu) rs60809236 0.03040
NM_153717.3(EVC):c.1096C>T (p.Leu366=) rs6854138 0.03038
NM_147127.5(EVC2):c.1059C>T (p.Gly353=) rs77793386 0.02666
NM_153717.3(EVC):c.*1060A>C rs71599848 0.02627
NM_153717.3(EVC):c.939+11G>T rs55955937 0.02598
NM_153717.3(EVC):c.*1375A>G rs114994758 0.02309
NM_147127.5(EVC2):c.3557+10G>A rs116218656 0.02138
NM_153717.3(EVC):c.*1083T>G rs71599850 0.01938
NM_153717.3(EVC):c.*2277G>C rs28452978 0.01778
NM_153717.3(EVC):c.*615C>T rs73079505 0.01604
NM_153717.3(EVC):c.*1849C>G rs75438311 0.01539
NM_147127.5(EVC2):c.3040C>G (p.Leu1014Val) rs75829835 0.01478
NM_153717.3(EVC):c.*820C>T rs137860758 0.01469
NM_153717.3(EVC):c.2279G>A (p.Arg760Gln) rs2279252 0.01416
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.2363G>A (p.Arg788His) rs73795088 0.01159
NM_147127.5(EVC2):c.1384A>G (p.Thr462Ala) rs73063795 0.01151
NM_153717.3(EVC):c.2373G>A (p.Gln791=) rs73795089 0.01090
NM_153717.3(EVC):c.385-16C>T rs113571700 0.01046
NM_153717.3(EVC):c.2505G>A (p.Ser835=) rs115976359 0.00969
NM_153717.3(EVC):c.2872G>A (p.Asp958Asn) rs35287723 0.00921
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_147127.5(EVC2):c.1311A>G (p.Leu437=) rs77131452 0.00844
NM_153717.3(EVC):c.1320T>A (p.Phe440Leu) rs60582583 0.00780
NM_147127.5(EVC2):c.*394A>G rs138063943 0.00737
NM_153717.3(EVC):c.780G>A (p.Lys260=) rs41269555 0.00661
NM_147127.5(EVC2):c.2707-5T>C rs186058156 0.00650
NM_147127.5(EVC2):c.1198A>G (p.Thr400Ala) rs138972736 0.00617
NM_147127.5(EVC2):c.1730T>C (p.Met577Thr) rs113869406 0.00570
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_153717.3(EVC):c.*2132A>G rs11939264 0.00499
NM_153717.3(EVC):c.469C>G (p.Pro157Ala) rs146729456 0.00451
NM_147127.5(EVC2):c.675A>G (p.Gly225=) rs74930168 0.00434
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_153717.3(EVC):c.*2285C>G rs145479436 0.00352
NM_147127.5(EVC2):c.3375A>G (p.Ala1125=) rs116076068 0.00345
NM_153717.3(EVC):c.1855G>A (p.Val619Ile) rs111293777 0.00328
NM_153717.3(EVC):c.*1185A>G rs113728951 0.00281
NM_147127.5(EVC2):c.2151C>T (p.His717=) rs144584049 0.00230
NM_153717.3(EVC):c.939+9C>T rs201282320 0.00211
NM_153717.3(EVC):c.1369G>A (p.Glu457Lys) rs141859946 0.00188
NM_147127.5(EVC2):c.2394G>A (p.Arg798=) rs147173201 0.00170
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.2395G>C (p.Asp799His) rs143491078 0.00149
NM_153717.3(EVC):c.473C>G (p.Ser158Cys) rs150284356 0.00097
NM_153717.3(EVC):c.*2466G>A rs572400824 0.00077
NM_147127.5(EVC2):c.1040C>T (p.Pro347Leu) rs199708349 0.00039
NM_153717.3(EVC):c.1428G>C (p.Glu476Asp) rs571637567 0.00038
NM_147127.5(EVC2):c.1882G>A (p.Glu628Lys) rs186197620 0.00034
NM_147127.5(EVC2):c.2077G>A (p.Val693Ile) rs199824658 0.00022
NM_153717.3(EVC):c.*1648T>C rs371788560 0.00004
NM_147127.5(EVC2):c.1711-11_1711-10del rs35103377
NM_153717.3(EVC):c.*1845del rs397690241
NM_153717.3(EVC):c.1099-167G>C rs6810769
NM_153717.3(EVC):c.1099-208C>T rs6812234
NM_153717.3(EVC):c.1346C>A (p.Thr449Lys) rs2302075
NM_153717.3(EVC):c.1563+185A>G rs12499655
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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