ClinVar Miner

List of variants in gene EVC studied for Chondroectodermal dysplasia

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Gene type:
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Total variants: 90
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HGVS dbSNP
NM_153717.2(EVC):c.2688+4_2688+5ins19 rs1553895769
NM_153717.2(EVC):c.2782+1delG rs1169539647
NM_153717.2(EVC):c.303_308del6 (p.Cys102_Glu103del) rs1553865272
NM_153717.3(EVC):c.1018C>T (p.Arg340Ter) rs121908425
NM_153717.3(EVC):c.1056_1059dup (p.Glu354fs) rs1553873969
NM_153717.3(EVC):c.1060G>T (p.Glu354Ter) rs779915989
NM_153717.3(EVC):c.1084_1086del (p.Glu362del) rs1553873980
NM_153717.3(EVC):c.114_119CGGCCT[4] (p.39_40GL[4]) rs1164121689
NM_153717.3(EVC):c.1252_1254del (p.Lys418del) rs1553875708
NM_153717.3(EVC):c.1269_1271GCA[2] (p.Gln425del) rs1553875724
NM_153717.3(EVC):c.127_132dup (p.39_40GL[4]) rs1553857987
NM_153717.3(EVC):c.1286_1288del (p.Phe429del) rs1553875733
NM_153717.3(EVC):c.1328G>A (p.Arg443Gln) rs35953626
NM_153717.3(EVC):c.134G>A (p.Trp45Ter) rs1553857995
NM_153717.3(EVC):c.1373del (p.Gly458fs) rs760607210
NM_153717.3(EVC):c.1405_1415dup (p.Ser472fs) rs1553876034
NM_153717.3(EVC):c.1464+20T>C rs886038740
NM_153717.3(EVC):c.1465-3_1472del rs1300178432
NM_153717.3(EVC):c.1473dup (p.Glu492Ter) rs1553876813
NM_153717.3(EVC):c.1500G>A (p.Met500Ile) rs149898884
NM_153717.3(EVC):c.1539del (p.Glu514fs) rs759106605
NM_153717.3(EVC):c.1554dup (p.Leu519fs) rs1553876870
NM_153717.3(EVC):c.1564-2A>G rs1553886849
NM_153717.3(EVC):c.1678G>T (p.Glu560Ter) rs764397417
NM_153717.3(EVC):c.1684C>T (p.Gln562Ter) rs751772225
NM_153717.3(EVC):c.1694del (p.Ala565fs) rs753014919
NM_153717.3(EVC):c.175-9G>A rs753317536
NM_153717.3(EVC):c.1777-1G>A rs1262933856
NM_153717.3(EVC):c.1777-2A>G rs909612975
NM_153717.3(EVC):c.1786_1788GAG[1] (p.Glu597del) rs764533114
NM_153717.3(EVC):c.1813C>T (p.Gln605Ter) rs1553889992
NM_153717.3(EVC):c.1868T>C (p.Leu623Pro) rs1373632260
NM_153717.3(EVC):c.1886+5G>T rs794726665
NM_153717.3(EVC):c.1887-5_1904del rs779275317
NM_153717.3(EVC):c.1922_1927del (p.Leu641_Leu642del) rs1553891170
NM_153717.3(EVC):c.1940_1951del (p.Arg647_Ala650del) rs1553891205
NM_153717.3(EVC):c.2097+1G>T rs1553891368
NM_153717.3(EVC):c.2098-1G>A rs773019082
NM_153717.3(EVC):c.2114_2116AGG[1] (p.Glu706del) rs1553891884
NM_153717.3(EVC):c.2164C>T (p.Gln722Ter) rs1553891936
NM_153717.3(EVC):c.2176dup (p.Leu726fs) rs146475474
NM_153717.3(EVC):c.2304+2T>C rs1553892090
NM_153717.3(EVC):c.2440_2445dup (p.Thr814_Leu815dup) rs1553893407
NM_153717.3(EVC):c.2449+1G>A rs1553893423
NM_153717.3(EVC):c.2457del (p.Met820fs) rs794726666
NM_153717.3(EVC):c.24del (p.Ala7_Cys8insTer) rs1553857828
NM_153717.3(EVC):c.2561+12_2561+23del rs1199616057
NM_153717.3(EVC):c.2561+12_2561+23dup rs1199616057
NM_153717.3(EVC):c.2561+1G>A rs1553894457
NM_153717.3(EVC):c.2635C>T (p.Gln879Ter) rs121908424
NM_153717.3(EVC):c.2668del (p.Gln890fs) rs1553895755
NM_153717.3(EVC):c.2688+1G>C rs1553895776
NM_153717.3(EVC):c.2782+1G>T rs1007534611
NM_153717.3(EVC):c.2821C>T (p.Gln941Ter) rs896581899
NM_153717.3(EVC):c.2827_2828AG[1] (p.Asp945fs) rs1460851298
NM_153717.3(EVC):c.2842dup (p.Val948fs) rs1553896459
NM_153717.3(EVC):c.2893dup (p.Ser965fs) rs1553896497
NM_153717.3(EVC):c.2894+3A>G rs1424976594
NM_153717.3(EVC):c.2916_2935del (p.Glu973fs) rs1553896708
NM_153717.3(EVC):c.2920del (p.Ser974fs) rs1370417156
NM_153717.3(EVC):c.2T>A (p.Met1Lys) rs1553857801
NM_153717.3(EVC):c.301-1G>A rs1363547577
NM_153717.3(EVC):c.363C>A (p.Tyr121Ter) rs748523193
NM_153717.3(EVC):c.364C>T (p.Pro122Ser) rs1407007311
NM_153717.3(EVC):c.384+5G>C rs1553865348
NM_153717.3(EVC):c.384G>T (p.Arg128=) rs1553865346
NM_153717.3(EVC):c.393del (p.Asp132fs) rs1437174284
NM_153717.3(EVC):c.40_42CTG[2] (p.Leu16del) rs1553857864
NM_153717.3(EVC):c.617G>A (p.Ser206Asn) rs1017946059
NM_153717.3(EVC):c.698dup (p.His233fs) rs1553867117
NM_153717.3(EVC):c.702+1G>A rs1553867138
NM_153717.3(EVC):c.703-1G>A rs1485152854
NM_153717.3(EVC):c.720del (p.Phe240fs) rs1553871764
NM_153717.3(EVC):c.72_86dup (p.Leu27_Ala31dup) rs1553857901
NM_153717.3(EVC):c.731_757del (p.Leu244_Ser253delinsPro) rs529818833
NM_153717.3(EVC):c.735del (p.Asp246fs) rs587776619
NM_153717.3(EVC):c.740_742TTC[1] (p.Leu248del) rs1278946084
NM_153717.3(EVC):c.751_753AAG[1] (p.Lys252del) rs1232712590
NM_153717.3(EVC):c.752dup (p.Lys252fs) rs1553871792
NM_153717.3(EVC):c.79_93del (p.Leu27_Ala31del) rs1553857904
NM_153717.3(EVC):c.801+2T>G rs1553871866
NM_153717.3(EVC):c.802-1G>C rs150814290
NM_153717.3(EVC):c.835_837del (p.Lys279del) rs761463883
NM_153717.3(EVC):c.873dup (p.Glu292Ter) rs527255616
NM_153717.3(EVC):c.884C>G (p.Thr295Ser) rs754532508
NM_153717.3(EVC):c.919T>C (p.Ser307Pro) rs121908426
NM_153717.3(EVC):c.928C>G (p.Leu310Val) rs145300726
NM_153717.3(EVC):c.939+1G>C rs1553873138
NM_153717.3(EVC):c.982C>T (p.Leu328Phe) rs199916502
NM_153717.3(EVC):c.99_113dup (p.Leu34_Leu38dup) rs1229967881

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