ClinVar Miner

List of variants in gene EVC2 studied for Ellis-van Creveld syndrome

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Gene type:
ClinVar version:
Total variants: 266
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HGVS dbSNP gnomAD frequency
NM_147127.5(EVC2):c.*384T>A rs2287576 0.63456
NM_147127.5(EVC2):c.2095A>G (p.Thr699Ala) rs730469 0.45556
NM_147127.5(EVC2):c.3507C>T (p.His1169=) rs12511039 0.28547
NM_147127.5(EVC2):c.688A>G (p.Ser230Gly) rs4689278 0.22179
NM_147127.5(EVC2):c.2061T>C (p.Arg687=) rs73198153 0.11242
NM_147127.5(EVC2):c.519+15G>A rs17688121 0.11080
NM_147127.5(EVC2):c.2235A>G (p.Glu745=) rs60121553 0.08440
NM_147127.5(EVC2):c.2046+5A>G rs6850875 0.06424
NM_147127.5(EVC2):c.3253C>T (p.Leu1085=) rs112554914 0.05194
NM_147127.5(EVC2):c.3023C>T (p.Ser1008Leu) rs60809236 0.03040
NM_147127.5(EVC2):c.1059C>T (p.Gly353=) rs77793386 0.02666
NM_147127.5(EVC2):c.3557+10G>A rs116218656 0.02138
NM_147127.5(EVC2):c.3040C>G (p.Leu1014Val) rs75829835 0.01478
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.*394A>G rs138063943 0.00737
NM_147127.5(EVC2):c.2707-5T>C rs186058156 0.00650
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_147127.5(EVC2):c.675A>G (p.Gly225=) rs74930168 0.00434
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_147127.5(EVC2):c.2047-9A>T rs73198154 0.00366
NM_147127.5(EVC2):c.707-4G>A rs113806963 0.00357
NM_147127.5(EVC2):c.2601C>T (p.Ala867=) rs116514447 0.00353
NM_147127.5(EVC2):c.3375A>G (p.Ala1125=) rs116076068 0.00345
NM_147127.5(EVC2):c.2029C>A (p.Arg677=) rs73198165 0.00341
NM_147127.5(EVC2):c.2621G>A (p.Arg874Gln) rs114764023 0.00325
NM_147127.5(EVC2):c.864C>T (p.Asn288=) rs144730069 0.00320
NM_147127.5(EVC2):c.2648C>T (p.Ala883Val) rs140951974 0.00314
NM_147127.5(EVC2):c.1471-7T>C rs150842594 0.00298
NM_147127.5(EVC2):c.*90C>T rs115810595 0.00287
NM_147127.5(EVC2):c.3659+8T>C rs200119306 0.00259
NM_147127.5(EVC2):c.*207A>G rs73072282 0.00252
NM_147127.5(EVC2):c.2151C>T (p.His717=) rs144584049 0.00230
NM_147127.5(EVC2):c.2883A>C (p.Gly961=) rs149188988 0.00192
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_147127.5(EVC2):c.2395G>C (p.Asp799His) rs143491078 0.00149
NM_147127.5(EVC2):c.3411C>T (p.Ala1137=) rs144532809 0.00146
NM_147127.5(EVC2):c.1823G>A (p.Arg608His) rs145693546 0.00126
NM_147127.5(EVC2):c.3272+7C>T rs201048030 0.00090
NM_147127.5(EVC2):c.904T>A (p.Phe302Ile) rs138728350 0.00083
NM_147127.5(EVC2):c.913G>T (p.Ala305Ser) rs150367317 0.00080
NM_147127.5(EVC2):c.3431G>A (p.Ser1144Asn) rs200609501 0.00058
NM_147127.5(EVC2):c.2060G>A (p.Arg687His) rs144420242 0.00054
NM_147127.5(EVC2):c.3468G>A (p.Leu1156=) rs201460514 0.00040
NM_147127.5(EVC2):c.1040C>T (p.Pro347Leu) rs199708349 0.00039
NM_147127.5(EVC2):c.1882G>A (p.Glu628Lys) rs186197620 0.00034
NM_147127.5(EVC2):c.3413C>T (p.Thr1138Met) rs182298453 0.00032
NM_147127.5(EVC2):c.1886+11A>G rs61218140 0.00028
NM_147127.5(EVC2):c.2416G>A (p.Val806Met) rs138128087 0.00028
NM_147127.5(EVC2):c.2077G>A (p.Val693Ile) rs199824658 0.00022
NM_147127.5(EVC2):c.2668G>A (p.Val890Met) rs371698182 0.00021
NM_147127.5(EVC2):c.3007G>A (p.Glu1003Lys) rs555666020 0.00021
NM_147127.5(EVC2):c.2039T>C (p.Leu680Pro) rs148407223 0.00019
NM_147127.5(EVC2):c.690C>G (p.Ser230Arg) rs200743695 0.00018
NM_147127.5(EVC2):c.1846G>A (p.Ala616Thr) rs201201603 0.00016
NM_147127.5(EVC2):c.615G>A (p.Leu205=) rs140864640 0.00016
NM_147127.5(EVC2):c.2848C>T (p.Arg950Trp) rs137852928 0.00013
NM_147127.5(EVC2):c.2864G>A (p.Arg955Gln) rs145786485 0.00011
NM_147127.5(EVC2):c.1822C>T (p.Arg608Cys) rs371876802 0.00010
NM_147127.5(EVC2):c.2340C>T (p.His780=) rs150691722 0.00010
NM_147127.5(EVC2):c.3382C>A (p.Leu1128Met) rs200105743 0.00009
NM_147127.5(EVC2):c.2257C>T (p.Arg753Cys) rs375693723 0.00008
NM_147127.5(EVC2):c.3265C>T (p.Gln1089Ter) rs137852927 0.00008
NM_147127.5(EVC2):c.530C>T (p.Ser177Leu) rs145758016 0.00008
NM_147127.5(EVC2):c.3837G>A (p.Lys1279=) rs201651890 0.00007
NM_147127.5(EVC2):c.1024A>T (p.Lys342Ter) rs767072839 0.00006
NM_147127.5(EVC2):c.2248G>A (p.Glu750Lys) rs144270330 0.00006
NM_147127.5(EVC2):c.2644A>G (p.Thr882Ala) rs190540235 0.00006
NM_147127.5(EVC2):c.1708C>T (p.Gln570Ter) rs769864196 0.00005
NM_147127.5(EVC2):c.1930C>T (p.Arg644Trp) rs760871098 0.00005
NM_147127.5(EVC2):c.1998G>A (p.Lys666=) rs201835379 0.00005
NM_147127.5(EVC2):c.2706+13T>C rs200000369 0.00005
NM_147127.5(EVC2):c.2829+9A>C rs370232376 0.00005
NM_147127.5(EVC2):c.3056G>A (p.Arg1019Gln) rs573448772 0.00005
NM_147127.5(EVC2):c.446G>A (p.Arg149His) rs202198132 0.00005
NM_147127.5(EVC2):c.1122G>A (p.Gly374=) rs780172151 0.00004
NM_147127.5(EVC2):c.1583A>G (p.Gln528Arg) rs369076839 0.00004
NM_147127.5(EVC2):c.3696G>T (p.Arg1232Ser) rs150551872 0.00004
NM_147127.5(EVC2):c.1111G>A (p.Glu371Lys) rs929810328 0.00003
NM_147127.5(EVC2):c.221G>A (p.Ser74Asn) rs1191013607 0.00003
NM_147127.5(EVC2):c.229-2A>G rs769799880 0.00003
NM_147127.5(EVC2):c.2359C>T (p.Arg787Trp) rs776830520 0.00003
NM_147127.5(EVC2):c.2363C>T (p.Ala788Val) rs376048508 0.00003
NM_147127.5(EVC2):c.264C>A (p.Cys88Ter) rs965707319 0.00003
NM_147127.5(EVC2):c.2667C>T (p.Phe889=) rs201173415 0.00003
NM_147127.5(EVC2):c.3055C>T (p.Arg1019Trp) rs139610006 0.00003
NM_147127.5(EVC2):c.3157G>A (p.Asp1053Asn) rs746187559 0.00003
NM_147127.5(EVC2):c.361G>C (p.Gly121Arg) rs748417016 0.00003
NM_147127.5(EVC2):c.3659+2T>C rs200300612 0.00003
NM_147127.5(EVC2):c.3757G>A (p.Ala1253Thr) rs745540572 0.00003
NM_147127.5(EVC2):c.550C>T (p.Arg184Cys) rs773218631 0.00003
NM_147127.5(EVC2):c.707T>C (p.Val236Ala) rs764307512 0.00003
NM_147127.5(EVC2):c.885C>T (p.His295=) rs752378780 0.00003
NM_147127.5(EVC2):c.1083C>T (p.Asn361=) rs142231129 0.00002
NM_147127.5(EVC2):c.2620C>T (p.Arg874Ter) rs760382778 0.00002
NM_147127.5(EVC2):c.2707-9C>G rs772234395 0.00002
NM_147127.5(EVC2):c.3121C>T (p.Gln1041Ter) rs376133710 0.00002
NM_147127.5(EVC2):c.3134C>T (p.Ala1045Val) rs750108569 0.00002
NM_147127.5(EVC2):c.3174G>A (p.Leu1058=) rs555652075 0.00002
NM_147127.5(EVC2):c.3505C>T (p.His1169Tyr) rs747562782 0.00002
NM_147127.5(EVC2):c.973T>C (p.Cys325Arg) rs1467471693 0.00002
NM_147127.5(EVC2):c.*68T>C rs886059470 0.00001
NM_147127.5(EVC2):c.1655_1658del (p.Gly552fs) rs1159758018 0.00001
NM_147127.5(EVC2):c.1702A>G (p.Lys568Glu) rs769178878 0.00001
NM_147127.5(EVC2):c.1711-1G>A rs1553836169 0.00001
NM_147127.5(EVC2):c.1855C>T (p.Gln619Ter) rs137852925 0.00001
NM_147127.5(EVC2):c.1931G>A (p.Arg644Gln) rs773470850 0.00001
NM_147127.5(EVC2):c.1949_1963del (p.Phe650_Lys655delinsTer) rs1431987950 0.00001
NM_147127.5(EVC2):c.2047-2A>G rs1553833239 0.00001
NM_147127.5(EVC2):c.2263C>T (p.Gln755Ter) rs751356206 0.00001
NM_147127.5(EVC2):c.229-1G>T rs1214848359 0.00001
NM_147127.5(EVC2):c.2343C>T (p.Gly781=) rs762082443 0.00001
NM_147127.5(EVC2):c.2476C>T (p.Arg826Ter) rs548681312 0.00001
NM_147127.5(EVC2):c.2484G>A (p.Trp828Ter) rs770918273 0.00001
NM_147127.5(EVC2):c.2653C>T (p.Arg885Ter) rs146538906 0.00001
NM_147127.5(EVC2):c.2732G>A (p.Arg911Gln) rs767317898 0.00001
NM_147127.5(EVC2):c.2776G>A (p.Glu926Lys) rs761946397 0.00001
NM_147127.5(EVC2):c.3178G>A (p.Glu1060Lys) rs779884599 0.00001
NM_147127.5(EVC2):c.3315G>A (p.Leu1105=) rs1006097259 0.00001
NM_147127.5(EVC2):c.337C>T (p.Leu113Phe) rs768224457 0.00001
NM_147127.5(EVC2):c.3543C>T (p.Asp1181=) rs762696562 0.00001
NM_147127.5(EVC2):c.3643C>T (p.Arg1215Cys) rs763433901 0.00001
NM_147127.5(EVC2):c.3660del (p.Ser1220fs) rs753581033 0.00001
NM_147127.5(EVC2):c.450+2T>C rs781096099 0.00001
NM_147127.5(EVC2):c.451-15T>C rs554022197 0.00001
NM_147127.5(EVC2):c.619G>T (p.Asp207Tyr) rs761707323 0.00001
NM_147127.5(EVC2):c.62dup (p.Ala22fs) rs1430962566 0.00001
NM_147127.5(EVC2):c.706+13C>T rs371526145 0.00001
NM_147127.5(EVC2):c.707-2A>G rs1302074641 0.00001
NM_147127.5(EVC2):c.737C>G (p.Ala246Gly) rs765973029 0.00001
NM_147127.5(EVC2):c.745C>T (p.Gln249Ter) rs1236566474 0.00001
NM_147127.5(EVC2):c.848T>G (p.Ile283Arg) rs137852926 0.00001
NM_147127.5(EVC2):c.857A>G (p.Glu286Gly) rs1720323516 0.00001
NM_147127.5(EVC2):c.893del (p.His298fs) rs777505711 0.00001
NM_147127.5(EVC2):c.903G>T (p.Gly301=) rs745889694 0.00001
NM_147127.5(EVC2):c.942G>A (p.Trp314Ter) rs763363403 0.00001
NM_147127.5(EVC2):c.*105C>T rs1722029883
NM_147127.5(EVC2):c.*141A>G rs565382969
NM_147127.5(EVC2):c.-29C>A rs754218861
NM_147127.5(EVC2):c.1012C>T (p.Gln338Ter) rs2475506558
NM_147127.5(EVC2):c.105_126dup (p.Gly43fs) rs1553855127
NM_147127.5(EVC2):c.1079T>A (p.Leu360His) rs774401542
NM_147127.5(EVC2):c.1087_1098del (p.Gln363_Asp366del) rs1553846622
NM_147127.5(EVC2):c.133C>T (p.Gln45Ter) rs1477102573
NM_147127.5(EVC2):c.142_151del (p.Asp49fs) rs1221185345
NM_147127.5(EVC2):c.146_154del (p.Asp49_Gln51del) rs1553855096
NM_147127.5(EVC2):c.1471-1G>C rs1553837446
NM_147127.5(EVC2):c.1498C>A (p.Arg500=) rs148248777
NM_147127.5(EVC2):c.1511del (p.Gly504fs) rs2475407728
NM_147127.5(EVC2):c.1551_1552insTTTCT (p.Gln518fs) rs2475407465
NM_147127.5(EVC2):c.1552delinsGAGACAGT (p.Gln518fs) rs2475407458
NM_147127.5(EVC2):c.1554AGA[2] (p.Glu520del) rs772411576
NM_147127.5(EVC2):c.1612C>T (p.His538Tyr)
NM_147127.5(EVC2):c.1639del (p.Ser547fs) rs2108851441
NM_147127.5(EVC2):c.1666C>T (p.Pro556Ser) rs886059491
NM_147127.5(EVC2):c.1680_1681del (p.Lys560fs) rs2475406567
NM_147127.5(EVC2):c.1711-11_1711-10del rs35103377
NM_147127.5(EVC2):c.1711-11_1711-10dup rs35103377
NM_147127.5(EVC2):c.1739del (p.Phe580fs)
NM_147127.5(EVC2):c.1828C>T (p.Gln610Ter)
NM_147127.5(EVC2):c.1852delinsTCTTT (p.Ala618fs) rs2475395618
NM_147127.5(EVC2):c.1872_1873delinsA (p.Gln625fs) rs2475395424
NM_147127.5(EVC2):c.1887-1G>A rs1490912913
NM_147127.5(EVC2):c.1896C>G (p.Tyr632Ter) rs779707723
NM_147127.5(EVC2):c.194_198dup (p.Ser67fs) rs992326794
NM_147127.5(EVC2):c.1987G>T (p.Glu663Ter) rs2475385815
NM_147127.5(EVC2):c.1997dup (p.Leu667fs) rs2475385758
NM_147127.5(EVC2):c.199_208del (p.Ser67fs) rs1420414097
NM_147127.5(EVC2):c.2005C>T (p.Gln669Ter) rs2475385703
NM_147127.5(EVC2):c.2017_2021del (p.Thr673fs) rs2108843144
NM_147127.5(EVC2):c.2029C>T (p.Arg677Ter) rs73198165
NM_147127.5(EVC2):c.202_211dup (p.Pro71fs) rs1553855074
NM_147127.5(EVC2):c.2046+1G>C rs762947212
NM_147127.5(EVC2):c.2046+1G>T rs762947212
NM_147127.5(EVC2):c.2047-1G>T
NM_147127.5(EVC2):c.204_210dup (p.Pro71fs) rs2474141903
NM_147127.5(EVC2):c.2053del (p.Glu685fs) rs2475376968
NM_147127.5(EVC2):c.2056dup (p.Gln686fs) rs1265421045
NM_147127.5(EVC2):c.2122_2125delinsAGA (p.His708fs) rs2475376434
NM_147127.5(EVC2):c.2130GAG[1] (p.Arg711del) rs1553833065
NM_147127.5(EVC2):c.2137C>G (p.Leu713Val) rs143662104
NM_147127.5(EVC2):c.2188C>T (p.Gln730Ter) rs2108839112
NM_147127.5(EVC2):c.2219delinsTTTCT (p.Thr740fs) rs2475375376
NM_147127.5(EVC2):c.222_228+21del rs1484464278
NM_147127.5(EVC2):c.2239_2243del (p.Ala747fs)
NM_147127.5(EVC2):c.2335G>T (p.Glu779Ter)
NM_147127.5(EVC2):c.2347_2349del (p.Glu783del) rs1553832710
NM_147127.5(EVC2):c.2394_2395del (p.Asp799fs) rs2475374125
NM_147127.5(EVC2):c.24del (p.Arg9fs) rs2151750195
NM_147127.5(EVC2):c.257_260del (p.Val86fs) rs2474109890
NM_147127.5(EVC2):c.2707-1G>T rs749251178
NM_147127.5(EVC2):c.2737A>T (p.Lys913Ter) rs2475350575
NM_147127.5(EVC2):c.2746del (p.Ser916fs) rs886037763
NM_147127.5(EVC2):c.2764A>T (p.Lys922Ter) rs2475350406
NM_147127.5(EVC2):c.2830-1G>A rs1553818428
NM_147127.5(EVC2):c.2833C>T (p.Arg945Ter) rs1301855639
NM_147127.5(EVC2):c.284-10T>G rs1192584069
NM_147127.5(EVC2):c.2842_2848del (p.Leu948fs) rs2475236700
NM_147127.5(EVC2):c.2851G>T (p.Glu951Ter) rs1383783171
NM_147127.5(EVC2):c.2855_2858delinsCACTCA (p.Arg952fs) rs2475236631
NM_147127.5(EVC2):c.2856_2857del (p.Arg952fs) rs2475236642
NM_147127.5(EVC2):c.2878G>T (p.Glu960Ter) rs868183689
NM_147127.5(EVC2):c.2944_2945del (p.Leu982fs) rs2475235794
NM_147127.5(EVC2):c.2959G>A (p.Ala987Thr) rs750392808
NM_147127.5(EVC2):c.2962CTC[1] (p.Leu989del) rs775393091
NM_147127.5(EVC2):c.2983C>G (p.Leu995Val) rs548381022
NM_147127.5(EVC2):c.2989G>T (p.Glu997Ter) rs2475235455
NM_147127.5(EVC2):c.299G>A (p.Gly100Glu) rs886059493
NM_147127.5(EVC2):c.3043G>T (p.Glu1015Ter) rs2475235098
NM_147127.5(EVC2):c.3057+1G>A rs1307502841
NM_147127.5(EVC2):c.3058-2A>G rs760066386
NM_147127.5(EVC2):c.3091C>G (p.Gln1031Glu) rs370438593
NM_147127.5(EVC2):c.30dup (p.Thr11fs) rs1442303442
NM_147127.5(EVC2):c.3115CAG[3] (p.Gln1042del) rs774915706
NM_147127.5(EVC2):c.3119A>C (p.Gln1040Pro) rs1722937250
NM_147127.5(EVC2):c.3141G>A (p.Trp1047Ter) rs886037764
NM_147127.5(EVC2):c.3169_3182del (p.Ile1057fs) rs2475208623
NM_147127.5(EVC2):c.316A>T (p.Lys106Ter) rs2474100970
NM_147127.5(EVC2):c.3229G>A (p.Ala1077Thr) rs182888222
NM_147127.5(EVC2):c.3272+8G>A rs201800139
NM_147127.5(EVC2):c.3279_3282del (p.Glu1094fs) rs2475201744
NM_147127.5(EVC2):c.3289C>G (p.Gln1097Glu) rs150215092
NM_147127.5(EVC2):c.3305T>C (p.Leu1102Pro) rs1722816787
NM_147127.5(EVC2):c.3360+1G>A rs1553815019
NM_147127.5(EVC2):c.3411del (p.Thr1138fs) rs2475184249
NM_147127.5(EVC2):c.3454_3461dup (p.Gln1154fs) rs1722451930
NM_147127.5(EVC2):c.3458_3476del (p.Pro1153fs) rs778793911
NM_147127.5(EVC2):c.3459_3460del (p.Gln1154fs) rs2475183787
NM_147127.5(EVC2):c.3487_3489del (p.Thr1163del) rs1553813318
NM_147127.5(EVC2):c.3535C>T (p.Gln1179Ter) rs2475182808
NM_147127.5(EVC2):c.3598C>T (p.Arg1200Ter) rs1305301849
NM_147127.5(EVC2):c.3599GAG[1] (p.Gly1201del) rs1227016096
NM_147127.5(EVC2):c.3634delinsGA (p.Leu1212fs) rs1553812417
NM_147127.5(EVC2):c.3660-2A>G rs1553811863
NM_147127.5(EVC2):c.380T>A (p.Leu127Ter) rs2151736638
NM_147127.5(EVC2):c.3863del (p.Pro1288fs) rs1553811729
NM_147127.5(EVC2):c.3876GAA[1] (p.Lys1293del) rs752839237
NM_147127.5(EVC2):c.3911C>T (p.Ala1304Val) rs1722037682
NM_147127.5(EVC2):c.427G>A (p.Glu143Lys) rs1721325369
NM_147127.5(EVC2):c.437_438del (p.Ile146fs) rs2474100239
NM_147127.5(EVC2):c.450+1G>A rs1447633595
NM_147127.5(EVC2):c.450+1del rs1553852469
NM_147127.5(EVC2):c.451-2A>G rs1553851870
NM_147127.5(EVC2):c.466del (p.Arg156fs) rs2475597907
NM_147127.5(EVC2):c.50dup (p.Leu18fs) rs1553855151
NM_147127.5(EVC2):c.534dup (p.Glu179Ter) rs1553851462
NM_147127.5(EVC2):c.571A>G (p.Asn191Asp) rs1560228138
NM_147127.5(EVC2):c.597C>T (p.Asn199=) rs1003816966
NM_147127.5(EVC2):c.636_637delinsT (p.Thr213fs) rs2475591015
NM_147127.5(EVC2):c.711_717del (p.Asp238fs) rs2475579060
NM_147127.5(EVC2):c.750_751delinsA (p.Gly251fs) rs2475578805
NM_147127.5(EVC2):c.769G>T (p.Glu257Ter) rs1553850677
NM_147127.5(EVC2):c.775_781del (p.Leu259fs) rs2475578663
NM_147127.5(EVC2):c.816+2T>C rs1294715119
NM_147127.5(EVC2):c.817-2A>G rs1553849894
NM_147127.5(EVC2):c.826_827del (p.Gln276fs) rs758841632
NM_147127.5(EVC2):c.871-2_894del rs755789146
NM_147127.5(EVC2):c.889C>G (p.Leu297Val) rs886059492
NM_147127.5(EVC2):c.916delinsGACGA (p.Phe306fs) rs2475515476
NM_147127.5(EVC2):c.961del (p.Val321fs) rs2475515135
NM_147127.5(EVC2):c.99_131del (p.Ser34_Ala44del) rs1553855115

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