ClinVar Miner

List of variants reported as benign for Ellis-van Creveld syndrome by Illumina Clinical Services Laboratory,Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 101
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HGVS dbSNP
NM_147127.5(EVC2):c.*384T>A rs2287576
NM_147127.5(EVC2):c.*394A>G rs138063943
NM_147127.5(EVC2):c.-15G>A rs76269601
NM_147127.5(EVC2):c.1040C>T (p.Pro347Leu) rs199708349
NM_147127.5(EVC2):c.1059C>T (p.Gly353=) rs77793386
NM_147127.5(EVC2):c.1198A>G (p.Thr400Ala) rs138972736
NM_147127.5(EVC2):c.1311A>G (p.Leu437=) rs77131452
NM_147127.5(EVC2):c.1384A>G (p.Thr462Ala) rs73063795
NM_147127.5(EVC2):c.1437A>G (p.Glu479=) rs13131655
NM_147127.5(EVC2):c.1730T>C (p.Met577Thr) rs113869406
NM_147127.5(EVC2):c.1845C>T (p.Thr615=) rs112747818
NM_147127.5(EVC2):c.1882G>A (p.Glu628Lys) rs186197620
NM_147127.5(EVC2):c.2046+5A>G rs6850875
NM_147127.5(EVC2):c.2061T>C (p.Arg687=) rs73198153
NM_147127.5(EVC2):c.2095A>G (p.Thr699Ala) rs730469
NM_147127.5(EVC2):c.2151C>T (p.His717=) rs144584049
NM_147127.5(EVC2):c.2235A>G (p.Glu745=) rs60121553
NM_147127.5(EVC2):c.2394G>A (p.Arg798=) rs147173201
NM_147127.5(EVC2):c.2395G>C (p.Asp799His) rs143491078
NM_147127.5(EVC2):c.2487G>A (p.Glu829=) rs16837501
NM_147127.5(EVC2):c.2707-5T>C rs186058156
NM_147127.5(EVC2):c.2863C>T (p.Arg955Trp) rs116502852
NM_147127.5(EVC2):c.3023C>T (p.Ser1008Leu) rs60809236
NM_147127.5(EVC2):c.3040C>G (p.Leu1014Val) rs75829835
NM_147127.5(EVC2):c.307T>C (p.Leu103=) rs140877783
NM_147127.5(EVC2):c.3138C>G (p.Ser1046Arg) rs73074138
NM_147127.5(EVC2):c.3253C>T (p.Leu1085=) rs112554914
NM_147127.5(EVC2):c.3375A>G (p.Ala1125=) rs116076068
NM_147127.5(EVC2):c.3507C>T (p.His1169=) rs12511039
NM_147127.5(EVC2):c.3557+10G>A rs116218656
NM_147127.5(EVC2):c.3561A>G (p.Lys1187=) rs76523157
NM_147127.5(EVC2):c.519+15G>A rs17688121
NM_147127.5(EVC2):c.52C>T (p.Leu18Phe) rs6820907
NM_147127.5(EVC2):c.675A>G (p.Gly225=) rs74930168
NM_147127.5(EVC2):c.688A>G (p.Ser230Gly) rs4689278
NM_147127.5(EVC2):c.692A>G (p.Lys231Arg) rs114024753
NM_147127.5(EVC2):c.814C>T (p.Arg272Trp) rs114142742
NM_153717.3(EVC):c.*1060A>C rs71599848
NM_153717.3(EVC):c.*1083T>G rs71599850
NM_153717.3(EVC):c.*1185A>G rs113728951
NM_153717.3(EVC):c.*1218C>T rs12501119
NM_153717.3(EVC):c.*1318G>C rs67547790
NM_153717.3(EVC):c.*1375A>G rs114994758
NM_153717.3(EVC):c.*14G>A rs2291151
NM_153717.3(EVC):c.*1648T>C rs371788560
NM_153717.3(EVC):c.*1700C>T rs74690944
NM_153717.3(EVC):c.*1845del rs397690241
NM_153717.3(EVC):c.*1849C>G rs75438311
NM_153717.3(EVC):c.*2009T>C rs79152885
NM_153717.3(EVC):c.*210C>A rs16837692
NM_153717.3(EVC):c.*2132A>G rs11939264
NM_153717.3(EVC):c.*2268G>A rs4261923
NM_153717.3(EVC):c.*2277G>C rs28452978
NM_153717.3(EVC):c.*2285C>G rs145479436
NM_153717.3(EVC):c.*2417T>C rs6848370
NM_153717.3(EVC):c.*2466G>A
NM_153717.3(EVC):c.*2617G>A rs3733186
NM_153717.3(EVC):c.*2680G>A rs3733187
NM_153717.3(EVC):c.*2708G>A rs79112570
NM_153717.3(EVC):c.*2713C>T rs3733188
NM_153717.3(EVC):c.*2871C>T rs3733189
NM_153717.3(EVC):c.*3165T>C rs3755847
NM_153717.3(EVC):c.*53T>C rs7676531
NM_153717.3(EVC):c.*615C>T rs73079505
NM_153717.3(EVC):c.*748T>C rs62297707
NM_153717.3(EVC):c.*820C>T rs137860758
NM_153717.3(EVC):c.*908G>A rs13119698
NM_153717.3(EVC):c.*931T>C rs6840435
NM_153717.3(EVC):c.1026G>C (p.Leu342=) rs4688962
NM_153717.3(EVC):c.1068A>G (p.Leu356=) rs33929747
NM_153717.3(EVC):c.1096C>T (p.Leu366=) rs6854138
NM_153717.3(EVC):c.1115C>T (p.Thr372Met) rs28483498
NM_153717.3(EVC):c.1320T>A (p.Phe440Leu) rs60582583
NM_153717.3(EVC):c.1328G>A (p.Arg443Gln) rs35953626
NM_153717.3(EVC):c.1333A>C (p.Lys445Gln) rs116952023
NM_153717.3(EVC):c.1346C>A (p.Thr449Lys) rs2302075
NM_153717.3(EVC):c.1428G>C (p.Glu476Asp) rs571637567
NM_153717.3(EVC):c.1464+8A>G rs116236414
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.1855G>A (p.Val619Ile) rs111293777
NM_153717.3(EVC):c.221A>C (p.Gln74Pro) rs2291157
NM_153717.3(EVC):c.2279G>A (p.Arg760Gln) rs2279252
NM_153717.3(EVC):c.2305-8T>C rs1031919
NM_153717.3(EVC):c.2363G>A (p.Arg788His) rs73795088
NM_153717.3(EVC):c.2373G>A (p.Gln791=) rs73795089
NM_153717.3(EVC):c.2449+15del rs398092136
NM_153717.3(EVC):c.249A>G (p.Ser83=) rs35870680
NM_153717.3(EVC):c.2505G>A (p.Ser835=) rs115976359
NM_153717.3(EVC):c.2562-4C>G rs60082311
NM_153717.3(EVC):c.2872G>A (p.Asp958Asn) rs35287723
NM_153717.3(EVC):c.341C>T (p.Ala114Val) rs16837598
NM_153717.3(EVC):c.473C>G (p.Ser158Cys) rs150284356
NM_153717.3(EVC):c.769C>T (p.Leu257=) rs6446393
NM_153717.3(EVC):c.772T>C (p.Tyr258His) rs6414624
NM_153717.3(EVC):c.780G>A (p.Lys260=) rs41269555
NM_153717.3(EVC):c.802-15C>T rs4689313
NM_153717.3(EVC):c.939+10A>G rs2286342
NM_153717.3(EVC):c.939+11G>T rs55955937
NM_153717.3(EVC):c.939+4C>T rs2286343
NM_153717.3(EVC):c.969T>C (p.Asn323=) rs4688963

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