ClinVar Miner

List of variants in gene EVC2 reported as pathogenic for Ellis-van Creveld syndrome; Curry-Hall syndrome

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Gene type:
ClinVar version:
Total variants: 191
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HGVS dbSNP gnomAD frequency
NM_147127.5(EVC2):c.3265C>T (p.Gln1089Ter) rs137852927 0.00008
NM_147127.5(EVC2):c.1024A>T (p.Lys342Ter) rs767072839 0.00006
NM_147127.5(EVC2):c.1708C>T (p.Gln570Ter) rs769864196 0.00005
NM_147127.5(EVC2):c.264C>A (p.Cys88Ter) rs965707319 0.00003
NM_147127.5(EVC2):c.341C>G (p.Ser114Ter) rs748820015 0.00003
NM_147127.5(EVC2):c.3659+2T>C rs200300612 0.00003
NM_147127.5(EVC2):c.1896C>A (p.Tyr632Ter) rs779707723 0.00002
NM_147127.5(EVC2):c.2620C>T (p.Arg874Ter) rs760382778 0.00002
NM_147127.5(EVC2):c.3121C>T (p.Gln1041Ter) rs376133710 0.00002
NM_147127.5(EVC2):c.3660del (p.Ser1220fs) rs753581033 0.00002
NM_147127.5(EVC2):c.1713dup (p.Asn572fs) rs1553836165 0.00001
NM_147127.5(EVC2):c.1855C>T (p.Gln619Ter) rs137852925 0.00001
NM_147127.5(EVC2):c.1949_1963del (p.Phe650_Lys655delinsTer) rs1431987950 0.00001
NM_147127.5(EVC2):c.2056dup (p.Gln686fs) rs1265421045 0.00001
NM_147127.5(EVC2):c.2092C>T (p.Arg698Ter) rs781623802 0.00001
NM_147127.5(EVC2):c.2263C>T (p.Gln755Ter) rs751356206 0.00001
NM_147127.5(EVC2):c.2398C>T (p.Gln800Ter) rs1282621867 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.2539G>T (p.Glu847Ter) rs1715453232 0.00001
NM_147127.5(EVC2):c.2653C>T (p.Arg885Ter) rs146538906 0.00001
NM_147127.5(EVC2):c.3205C>T (p.Gln1069Ter) rs144167138 0.00001
NM_147127.5(EVC2):c.3523_3527dup (p.Gln1179fs) rs1560126707 0.00001
NM_147127.5(EVC2):c.3762del (p.Val1255fs) rs1577093258 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.644G>A (p.Trp215Ter) rs1720937470 0.00001
NM_147127.5(EVC2):c.745C>T (p.Gln249Ter) rs1236566474 0.00001
NM_147127.5(EVC2):c.832A>T (p.Lys278Ter) rs942590430 0.00001
NM_147127.5(EVC2):c.893del (p.His298fs) rs777505711 0.00001
NC_000004.11:g.(?_5563146)_(5711294_?)del
NC_000004.11:g.(?_5564565)_(5578191_?)del
NC_000004.11:g.(?_5564565)_(5586587_?)del
NC_000004.11:g.(?_5564575)_(5570387_?)del
NC_000004.11:g.(?_5576402)_(5576509_?)del
NC_000004.11:g.(?_5577947)_(5586597_?)del
NC_000004.11:g.(?_5617129)_(5627655_?)del
NC_000004.11:g.(?_5620185)_(5642585_?)del
NC_000004.11:g.(?_5620185)_(5699394_?)del
NC_000004.11:g.(?_5624244)_(5624738_?)del
NC_000004.11:g.(?_5630276)_(5633769_?)del
NC_000004.11:g.(?_5642221)_(5642585_?)del
NC_000004.11:g.(?_5690874)_(5696238_?)del
NC_000004.11:g.(?_5696052)_(5696238_?)del
NC_000004.11:g.(?_5709993)_(5710240_?)del
NC_000004.12:g.(?_5562848)_(5565369_?)del
NC_000004.12:g.(?_5568434)_(5568650_?)del
NC_000004.12:g.(?_5689147)_(5689353_?)del
NM_147127.5(EVC2):c.104C>G (p.Ser35Ter) rs2151750076
NM_147127.5(EVC2):c.105_126dup (p.Gly43fs) rs1553855127
NM_147127.5(EVC2):c.1082_1095del (p.Asn361fs)
NM_147127.5(EVC2):c.1090del (p.Gln363_Met364insTer)
NM_147127.5(EVC2):c.1108del (p.Ser370fs) rs2108895910
NM_147127.5(EVC2):c.1132C>T (p.Gln378Ter)
NM_147127.5(EVC2):c.116G>A (p.Trp39Ter) rs1345487794
NM_147127.5(EVC2):c.117G>A (p.Trp39Ter) rs2151750059
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.1483_1484dup (p.Ser496fs) rs2108851802
NM_147127.5(EVC2):c.1519C>T (p.Gln507Ter)
NM_147127.5(EVC2):c.1529T>A (p.Leu510Ter) rs2108851695
NM_147127.5(EVC2):c.1541_1542del (p.Leu514fs) rs1560180583
NM_147127.5(EVC2):c.1588_1591del (p.Ala530fs)
NM_147127.5(EVC2):c.1606G>T (p.Glu536Ter) rs1284395468
NM_147127.5(EVC2):c.1667_1668del (p.Pro556fs)
NM_147127.5(EVC2):c.1706del (p.Ile569fs)
NM_147127.5(EVC2):c.1755dup (p.Tyr586fs) rs2108847232
NM_147127.5(EVC2):c.1791T>G (p.Tyr597Ter)
NM_147127.5(EVC2):c.1807_1808del (p.Gln603fs)
NM_147127.5(EVC2):c.1857_1866del (p.Gln619fs) rs2108847014
NM_147127.5(EVC2):c.1939_1945del (p.Thr647fs)
NM_147127.5(EVC2):c.194_198dup (p.Ser67fs) rs992326794
NM_147127.5(EVC2):c.1967T>A (p.Leu656Ter) rs1367694162
NM_147127.5(EVC2):c.1991dup (p.Lys665fs) rs2108843224
NM_147127.5(EVC2):c.199_208del (p.Ser67fs) rs1420414097
NM_147127.5(EVC2):c.199_208dup (p.Gly70fs)
NM_147127.5(EVC2):c.2010del (p.Lys670fs) rs2108843186
NM_147127.5(EVC2):c.2019dup (p.Lys674Ter) rs2108843158
NM_147127.5(EVC2):c.2026_2027insTTCT (p.Arg676fs)
NM_147127.5(EVC2):c.2029C>T (p.Arg677Ter) rs73198165
NM_147127.5(EVC2):c.2041C>T (p.Gln681Ter)
NM_147127.5(EVC2):c.2056C>T (p.Gln686Ter)
NM_147127.5(EVC2):c.2057del (p.Gln686fs)
NM_147127.5(EVC2):c.205del (p.Ala69fs) rs1400121444
NM_147127.5(EVC2):c.2068C>T (p.Gln690Ter)
NM_147127.5(EVC2):c.2069_2070del (p.Gln690fs) rs1715829134
NM_147127.5(EVC2):c.207_211dup (p.Pro71fs)
NM_147127.5(EVC2):c.208_212dup (p.Glu72fs)
NM_147127.5(EVC2):c.2148_2149dup (p.His717fs)
NM_147127.5(EVC2):c.2150_2156del (p.His717fs)
NM_147127.5(EVC2):c.2161del (p.Leu721fs)
NM_147127.5(EVC2):c.2188C>T (p.Gln730Ter) rs2108839112
NM_147127.5(EVC2):c.2281del (p.Gln761fs)
NM_147127.5(EVC2):c.2332del (p.Glu778fs)
NM_147127.5(EVC2):c.2365G>T (p.Glu789Ter)
NM_147127.5(EVC2):c.2368C>T (p.Gln790Ter) rs1577170055
NM_147127.5(EVC2):c.2380G>T (p.Glu794Ter)
NM_147127.5(EVC2):c.2386_2387del (p.Arg796fs)
NM_147127.5(EVC2):c.2405del (p.Gly802fs) rs2108838579
NM_147127.5(EVC2):c.2410C>T (p.Gln804Ter)
NM_147127.5(EVC2):c.2483G>A (p.Trp828Ter) rs1715768907
NM_147127.5(EVC2):c.2516_2517delinsAG (p.Ser839Ter)
NM_147127.5(EVC2):c.2524_2536del (p.Ser842fs) rs2108833500
NM_147127.5(EVC2):c.2533G>T (p.Glu845Ter)
NM_147127.5(EVC2):c.253A>T (p.Lys85Ter) rs2151739558
NM_147127.5(EVC2):c.2540_2549del (p.Glu847fs)
NM_147127.5(EVC2):c.2619_2629del (p.Arg874fs)
NM_147127.5(EVC2):c.2632C>T (p.Gln878Ter)
NM_147127.5(EVC2):c.2637_2638dup (p.Phe880fs) rs2108833230
NM_147127.5(EVC2):c.2652G>A (p.Trp884Ter) rs981099037
NM_147127.5(EVC2):c.2680C>T (p.Gln894Ter)
NM_147127.5(EVC2):c.2698G>T (p.Glu900Ter)
NM_147127.5(EVC2):c.2729C>G (p.Ser910Ter) rs2108829049
NM_147127.5(EVC2):c.273dup (p.Lys92Ter) rs2151739536
NM_147127.5(EVC2):c.2746del (p.Ser916fs) rs886037763
NM_147127.5(EVC2):c.2750del (p.Lys917fs)
NM_147127.5(EVC2):c.2796_2797del (p.Cys932_Glu933delinsTer) rs765076649
NM_147127.5(EVC2):c.2833C>T (p.Arg945Ter) rs1301855639
NM_147127.5(EVC2):c.2843T>A (p.Leu948Ter)
NM_147127.5(EVC2):c.2856_2857del (p.Arg952fs)
NM_147127.5(EVC2):c.2867_2879del (p.Met956fs)
NM_147127.5(EVC2):c.2881G>T (p.Gly961Ter)
NM_147127.5(EVC2):c.2892del (p.Gln965fs)
NM_147127.5(EVC2):c.2893C>T (p.Gln965Ter)
NM_147127.5(EVC2):c.2893_2894del (p.Gln965fs)
NM_147127.5(EVC2):c.2897C>A (p.Ser966Ter) rs145425340
NM_147127.5(EVC2):c.2944_2945del (p.Leu982fs)
NM_147127.5(EVC2):c.2954del (p.Tyr985fs) rs2108788549
NM_147127.5(EVC2):c.3023C>A (p.Ser1008Ter) rs60809236
NM_147127.5(EVC2):c.3057+1del rs772639262
NM_147127.5(EVC2):c.3080_3107del (p.Lys1027fs) rs1391194715
NM_147127.5(EVC2):c.30dup (p.Thr11fs) rs1442303442
NM_147127.5(EVC2):c.3140G>A (p.Trp1047Ter) rs200560762
NM_147127.5(EVC2):c.314del (p.Lys105fs)
NM_147127.5(EVC2):c.3194del (p.Asp1065fs) rs2108778725
NM_147127.5(EVC2):c.3239del (p.Lys1080fs) rs1291275281
NM_147127.5(EVC2):c.3251T>A (p.Leu1084Ter)
NM_147127.5(EVC2):c.3252dup (p.Leu1085fs)
NM_147127.5(EVC2):c.3346dup (p.Thr1116fs) rs1722814486
NM_147127.5(EVC2):c.3360+1G>A rs1553815019
NM_147127.5(EVC2):c.3374dup (p.Ser1126fs)
NM_147127.5(EVC2):c.3405_3411del (p.Gly1136fs) rs750396637
NM_147127.5(EVC2):c.3446_3455dup (p.Gln1152fs) rs1722452431
NM_147127.5(EVC2):c.3454_3461del (p.Gln1152fs)
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.3487_3488dup (p.Glu1164fs) rs2108770774
NM_147127.5(EVC2):c.3542_3543insACGA (p.Asp1181fs)
NM_147127.5(EVC2):c.3598C>T (p.Arg1200Ter) rs1305301849
NM_147127.5(EVC2):c.3637_3638insTT (p.Trp1213fs)
NM_147127.5(EVC2):c.3640del (p.Ala1214fs) rs1577095782
NM_147127.5(EVC2):c.3648_3649delinsTT (p.Lys1216_Arg1217delinsAsnTer) rs2108767230
NM_147127.5(EVC2):c.3655C>T (p.Gln1219Ter) rs369739594
NM_147127.5(EVC2):c.369_370del (p.Trp123fs)
NM_147127.5(EVC2):c.3734C>A (p.Ser1245Ter)
NM_147127.5(EVC2):c.3751G>T (p.Glu1251Ter) rs769520928
NM_147127.5(EVC2):c.3797T>G (p.Leu1266Ter) rs1577093161
NM_147127.5(EVC2):c.390dup (p.Ile131fs) rs1253403779
NM_147127.5(EVC2):c.392dup (p.Pro132fs) rs774416029
NM_147127.5(EVC2):c.420del (p.Phe140fs)
NM_147127.5(EVC2):c.437_438dup (p.Thr147Ter)
NM_147127.5(EVC2):c.449del (p.Leu150fs)
NM_147127.5(EVC2):c.50dup (p.Leu18fs) rs1553855151
NM_147127.5(EVC2):c.519+1G>A
NM_147127.5(EVC2):c.519+2T>C rs1721102486
NM_147127.5(EVC2):c.519+2T>G
NM_147127.5(EVC2):c.534dup (p.Glu179Ter) rs1553851462
NM_147127.5(EVC2):c.557G>A (p.Trp186Ter)
NM_147127.5(EVC2):c.599_602dup (p.Glu202fs)
NM_147127.5(EVC2):c.645G>A (p.Trp215Ter) rs779857359
NM_147127.5(EVC2):c.655G>T (p.Gly219Ter) rs745404766
NM_147127.5(EVC2):c.668C>A (p.Ser223Ter) rs999964757
NM_147127.5(EVC2):c.670dup (p.Glu224fs)
NM_147127.5(EVC2):c.703C>T (p.Gln235Ter)
NM_147127.5(EVC2):c.707-2A>C rs1302074641
NM_147127.5(EVC2):c.769G>T (p.Glu257Ter) rs1553850677
NM_147127.5(EVC2):c.790C>T (p.Gln264Ter)
NM_147127.5(EVC2):c.802C>T (p.Gln268Ter) rs2151728030
NM_147127.5(EVC2):c.80dup (p.Arg28fs)
NM_147127.5(EVC2):c.816+1G>T rs1355905411
NM_147127.5(EVC2):c.816+2T>C rs1294715119
NM_147127.5(EVC2):c.820A>T (p.Arg274Ter) rs2151724149
NM_147127.5(EVC2):c.821_824del (p.Arg274fs) rs1368193719
NM_147127.5(EVC2):c.826_827del (p.Gln276fs) rs758841632
NM_147127.5(EVC2):c.850del (p.Thr284fs) rs886044525
NM_147127.5(EVC2):c.86del (p.Gly29fs)
NM_147127.5(EVC2):c.871-2_894del rs755789146
NM_147127.5(EVC2):c.876_892dup (p.His298fs) rs2108900159
NM_147127.5(EVC2):c.903del (p.Phe302fs) rs1560208675
NM_147127.5(EVC2):c.90_91delinsAT (p.Cys30_Leu31delinsTer)
NM_147127.5(EVC2):c.942G>A (p.Trp314Ter) rs763363403

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