ClinVar Miner

List of variants in gene EVC reported as uncertain significance for Chondroectodermal dysplasia

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Total variants: 37
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HGVS dbSNP
NM_153717.2(EVC):c.2688+4_2688+5ins19 rs1553895769
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.1500G>A (p.Met500Ile) rs149898884
NM_153717.3(EVC):c.1786_1788GAG[1] (p.Glu597del) rs764533114
NM_153717.3(EVC):c.1868T>C (p.Leu623Pro) rs1373632260
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.2114_2116AGG[1] (p.Glu706del) rs1553891884
NM_153717.3(EVC):c.2440_2445dup (p.Thr814_Leu815dup) rs1553893407
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.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.2916_2935del (p.Glu973fs) rs1553896708
NM_153717.3(EVC):c.2920del (p.Ser974fs) rs1370417156
NM_153717.3(EVC):c.303_308del (p.Cys102_Glu103del) rs1553865272
NM_153717.3(EVC):c.364C>T (p.Pro122Ser) rs1407007311
NM_153717.3(EVC):c.384+5G>C rs1553865348
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.72_86dup (p.Leu27_Ala31dup) rs1553857901
NM_153717.3(EVC):c.731_757del (p.Leu244_Ser253delinsPro) rs529818833
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.79_93del (p.Leu27_Ala31del) rs1553857904
NM_153717.3(EVC):c.835_837del (p.Lys279del) rs761463883
NM_153717.3(EVC):c.884C>G (p.Thr295Ser) rs754532508
NM_153717.3(EVC):c.928C>G (p.Leu310Val) rs145300726
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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