ClinVar Miner

List of variants in gene EVC reported as likely pathogenic for Ellis-van Creveld syndrome

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Gene type:
ClinVar version:
Total variants: 93
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HGVS dbSNP gnomAD frequency
NM_153717.3(EVC):c.1500G>A (p.Met500Ile) rs149898884 0.00163
NM_153717.3(EVC):c.1668C>G (p.Tyr556Ter) rs765269619 0.00003
NM_153717.3(EVC):c.2782+1G>T rs1007534611 0.00002
NM_153717.3(EVC):c.1387dup (p.Thr463fs) rs1317662938 0.00001
NM_153717.3(EVC):c.1564-2A>G rs1553886849 0.00001
NM_153717.3(EVC):c.175-9G>A rs753317536 0.00001
NM_153717.3(EVC):c.1777-1G>A rs1262933856 0.00001
NM_153717.3(EVC):c.1777-2A>G rs909612975 0.00001
NM_153717.3(EVC):c.2078G>A (p.Trp693Ter) rs1714132239 0.00001
NM_153717.3(EVC):c.2098-1G>A rs773019082 0.00001
NM_153717.3(EVC):c.2821C>T (p.Gln941Ter) rs896581899 0.00001
NM_153717.3(EVC):c.2894+3A>G rs1424976594 0.00001
NM_153717.3(EVC):c.617G>A (p.Ser206Asn) rs1017946059 0.00001
NM_153717.3(EVC):c.702+1G>A rs1553867138 0.00001
NM_153717.3(EVC):c.919T>C (p.Ser307Pro) rs121908426 0.00001
NM_153717.3(EVC):c.1060G>T (p.Glu354Ter) rs779915989
NM_153717.3(EVC):c.1068_1069del (p.Leu357fs)
NM_153717.3(EVC):c.1081_1083delinsA (p.Gln361fs)
NM_153717.3(EVC):c.1113del (p.Thr372fs) rs2152076090
NM_153717.3(EVC):c.1128_1132del (p.His377fs)
NM_153717.3(EVC):c.1148_1152del (p.Glu383fs)
NM_153717.3(EVC):c.1158_1159insACTGTCTCTTATA (p.Leu387fs)
NM_153717.3(EVC):c.1212_1216del (p.Glu405fs)
NM_153717.3(EVC):c.1284_1287del (p.Phe429fs)
NM_153717.3(EVC):c.1290G>A (p.Trp430Ter)
NM_153717.3(EVC):c.1304_1307dup (p.Phe436fs)
NM_153717.3(EVC):c.134G>A (p.Trp45Ter) rs1553857995
NM_153717.3(EVC):c.1361_1362delinsT (p.His454fs)
NM_153717.3(EVC):c.1363C>T (p.Gln455Ter)
NM_153717.3(EVC):c.1373del (p.Gly458fs) rs760607210
NM_153717.3(EVC):c.1409del (p.Gln470fs)
NM_153717.3(EVC):c.1465-3_1472del rs1300178432
NM_153717.3(EVC):c.1473dup (p.Glu492Ter) rs1553876813
NM_153717.3(EVC):c.1539del (p.Glu514fs) rs759106605
NM_153717.3(EVC):c.1572del (p.Phe525fs)
NM_153717.3(EVC):c.1620_1621del (p.Gln541fs)
NM_153717.3(EVC):c.1678G>T (p.Glu560Ter) rs764397417
NM_153717.3(EVC):c.1750del (p.Gln584fs) rs1736000365
NM_153717.3(EVC):c.1765del (p.Gln589fs)
NM_153717.3(EVC):c.1803del (p.Ser602fs)
NM_153717.3(EVC):c.1813C>T (p.Gln605Ter) rs1553889992
NM_153717.3(EVC):c.1880_1881insGA (p.Glu628fs)
NM_153717.3(EVC):c.1887-5_1904del rs779275317
NM_153717.3(EVC):c.2026G>T (p.Glu676Ter)
NM_153717.3(EVC):c.2041G>T (p.Glu681Ter)
NM_153717.3(EVC):c.2097+1G>T rs1553891368
NM_153717.3(EVC):c.2098-1G>C rs773019082
NM_153717.3(EVC):c.2164C>T (p.Gln722Ter) rs1553891936
NM_153717.3(EVC):c.2176dup (p.Leu726fs) rs146475474
NM_153717.3(EVC):c.2191G>T (p.Glu731Ter)
NM_153717.3(EVC):c.228_234del (p.Ser77fs)
NM_153717.3(EVC):c.2304+2T>C rs1553892090
NM_153717.3(EVC):c.2436_2437del (p.Lys813fs)
NM_153717.3(EVC):c.2449+1G>A rs1553893423
NM_153717.3(EVC):c.2450-1G>A rs1715585498
NM_153717.3(EVC):c.2561+1G>A rs1553894457
NM_153717.3(EVC):c.2668del (p.Gln890fs) rs1553895755
NM_153717.3(EVC):c.2688+1G>C rs1553895776
NM_153717.3(EVC):c.2782+1del rs1169539647
NM_153717.3(EVC):c.301-1G>A rs1363547577
NM_153717.3(EVC):c.363C>A (p.Tyr121Ter) rs748523193
NM_153717.3(EVC):c.37_40del (p.Arg13fs)
NM_153717.3(EVC):c.37del (p.Arg13fs)
NM_153717.3(EVC):c.384G>T (p.Arg128=) rs1553865346
NM_153717.3(EVC):c.393del (p.Asp132fs) rs1437174284
NM_153717.3(EVC):c.39_40del (p.Leu14fs)
NM_153717.3(EVC):c.40_41insACTGTCTCTTA (p.Leu14fs)
NM_153717.3(EVC):c.43_44insGTATAAGAGACAG (p.Leu15fs)
NM_153717.3(EVC):c.48_55del (p.Gly17fs)
NM_153717.3(EVC):c.54_61del (p.Asp19fs)
NM_153717.3(EVC):c.59_60insA (p.Leu21fs)
NM_153717.3(EVC):c.60_61insACTGTCTCTTATA (p.Leu21fs)
NM_153717.3(EVC):c.636T>A (p.Cys212Ter)
NM_153717.3(EVC):c.64_79del (p.Arg22fs)
NM_153717.3(EVC):c.650_651del (p.His217fs)
NM_153717.3(EVC):c.698dup (p.His233fs) rs1553867117
NM_153717.3(EVC):c.703-1G>A rs1485152854
NM_153717.3(EVC):c.708del (p.Phe236fs)
NM_153717.3(EVC):c.720del (p.Phe240fs) rs1553871764
NM_153717.3(EVC):c.752dup (p.Lys252fs) rs1553871792
NM_153717.3(EVC):c.787_788delinsA (p.Ser263fs)
NM_153717.3(EVC):c.801+1G>T
NM_153717.3(EVC):c.801+2T>G rs1553871866
NM_153717.3(EVC):c.801del (p.Asp268fs)
NM_153717.3(EVC):c.802-1G>C rs150814290
NM_153717.3(EVC):c.840_846del (p.Ser281fs)
NM_153717.3(EVC):c.857C>A (p.Ser286Ter)
NM_153717.3(EVC):c.901AAG[1] (p.Lys302del) rs755381180
NM_153717.3(EVC):c.910del (p.Arg304fs)
NM_153717.3(EVC):c.939+1G>A rs1553873138
NM_153717.3(EVC):c.939+1G>C rs1553873138
NM_153717.3(EVC):c.985_986insATCTT (p.Val329fs)
NM_153717.3(EVC):c.999_1000insAACATTC (p.Cys334fs)

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