ClinVar Miner

List of variants in gene EVC reported by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Gene type:
ClinVar version:
Total variants: 50
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HGVS dbSNP gnomAD frequency
NM_153717.3(EVC):c.1099-19T>C rs899691 0.37351
NM_153717.3(EVC):c.174+31G>C rs2276874 0.14512
NM_153717.3(EVC):c.1328G>A (p.Arg443Gln) rs35953626 0.07232
NM_153717.3(EVC):c.1115C>T (p.Thr372Met) rs28483498 0.06438
NM_153717.3(EVC):c.939+11G>T rs55955937 0.02788
NM_153717.3(EVC):c.1563+1754G>A rs115269936 0.01725
NM_153717.3(EVC):c.1464+8A>G rs116236414 0.01163
NM_153717.3(EVC):c.2373G>A (p.Gln791=) rs73795089 0.01161
NM_153717.3(EVC):c.2363G>A (p.Arg788His) rs73795088 0.01159
NM_153717.3(EVC):c.385-16C>T rs113571700 0.00995
NM_153717.3(EVC):c.2872G>A (p.Asp958Asn) rs35287723 0.00977
NM_153717.3(EVC):c.2505G>A (p.Ser835=) rs115976359 0.00969
NM_153717.3(EVC):c.1320T>A (p.Phe440Leu) rs60582583 0.00733
NM_153717.3(EVC):c.780G>A (p.Lys260=) rs41269555 0.00676
NM_153717.3(EVC):c.284A>G (p.Asp95Gly) rs41269547 0.00561
NM_153717.3(EVC):c.469C>G (p.Pro157Ala) rs146729456 0.00451
NM_153717.3(EVC):c.1855G>A (p.Val619Ile) rs111293777 0.00354
NM_153717.3(EVC):c.1127C>T (p.Ala376Val) rs142535134 0.00309
NM_153717.3(EVC):c.1636A>G (p.Met546Val) rs112608085 0.00209
NM_153717.3(EVC):c.939+9C>T rs201282320 0.00205
NM_153717.3(EVC):c.1826G>A (p.Arg609Gln) rs41269557 0.00201
NM_153717.3(EVC):c.550G>A (p.Asp184Asn) rs41269549 0.00194
NM_153717.3(EVC):c.1369G>A (p.Glu457Lys) rs141859946 0.00188
NM_153717.3(EVC):c.1963G>A (p.Ala655Thr) rs149344570 0.00177
NM_153717.3(EVC):c.934G>A (p.Asp312Asn) rs115275195 0.00171
NM_153717.3(EVC):c.2869G>A (p.Gly957Arg) rs35926225 0.00150
NM_153717.3(EVC):c.1040C>T (p.Thr347Met) rs34947207 0.00127
NM_153717.3(EVC):c.89C>T (p.Pro30Leu) rs886044558 0.00121
NM_153717.3(EVC):c.1464+5C>T rs369734950 0.00120
NM_153717.3(EVC):c.2707A>G (p.Ile903Val) rs143678893 0.00093
NM_153717.3(EVC):c.2322G>C (p.Ala774=) rs150373930 0.00067
NM_153717.3(EVC):c.175-18C>G rs114621329 0.00047
NM_153717.3(EVC):c.1321G>A (p.Val441Ile) rs202150959 0.00036
NM_153717.3(EVC):c.2712C>T (p.Ser904=) rs146829332 0.00034
NM_153717.3(EVC):c.1777G>A (p.Val593Met) rs150535483 0.00014
NM_153717.3(EVC):c.2895-4T>C rs775049818 0.00008
NM_153717.3(EVC):c.1692C>T (p.Asn564=) rs138242443 0.00006
NM_153717.3(EVC):c.940-150T>C rs576076928 0.00006
NM_153717.3(EVC):c.1018C>T (p.Arg340Ter) rs121908425 0.00003
NM_153717.3(EVC):c.625G>A (p.Val209Ile) rs202026284 0.00003
NM_153717.3(EVC):c.2782+13dup rs770549797 0.00001
NM_153717.3(EVC):c.1416del (p.Phe473fs) rs768485560
NM_153717.3(EVC):c.1528G>A (p.Val510Ile) rs143971158
NM_153717.3(EVC):c.1652C>G (p.Pro551Arg) rs371682994
NM_153717.3(EVC):c.1684C>T (p.Gln562Ter) rs751772225
NM_153717.3(EVC):c.1854C>T (p.Gly618=) rs11737221
NM_153717.3(EVC):c.2562-4C>G rs60082311
NM_153717.3(EVC):c.589G>T (p.Ala197Ser) rs115507440
NM_153717.3(EVC):c.703-4del rs2152000379
NM_153717.3(EVC):c.802-17TTC[4] rs370315662

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