ClinVar Miner

List of variants in gene EVC reported as uncertain significance

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 548
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_153717.3(EVC):c.*1112T>C rs28460555 0.21076
NM_153717.3(EVC):c.1328G>A (p.Arg443Gln) rs35953626 0.07232
NM_153717.3(EVC):c.*1123A>G rs112378896 0.01481
NM_153717.3(EVC):c.*798T>G rs13101313 0.01027
NM_153717.3(EVC):c.*922G>A rs71599840 0.00749
NM_153717.3(EVC):c.284A>G (p.Asp95Gly) rs41269547 0.00547
NM_153717.3(EVC):c.469C>G (p.Pro157Ala) rs146729456 0.00451
NM_153717.3(EVC):c.*1136T>C rs71599852 0.00394
NM_153717.3(EVC):c.*1248T>G rs559890176 0.00230
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.93C>G (p.Ala31=) rs866226288 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 0.00176
NM_153717.3(EVC):c.*1243A>G rs111984543 0.00173
NM_153717.3(EVC):c.*1545T>G rs1328816482 0.00167
NM_153717.3(EVC):c.1500G>A (p.Met500Ile) rs149898884 0.00163
NM_153717.3(EVC):c.2869G>A (p.Gly957Arg) rs35926225 0.00150
NM_153717.3(EVC):c.*995T>A rs71599846 0.00149
NM_153717.3(EVC):c.*971C>G rs13121258 0.00145
NM_153717.3(EVC):c.*1288T>C rs1280696850 0.00134
NM_153717.3(EVC):c.89C>T (p.Pro30Leu) rs886044558 0.00121
NM_153717.3(EVC):c.*263T>C rs575488876 0.00093
NM_153717.3(EVC):c.2707A>G (p.Ile903Val) rs143678893 0.00086
NM_153717.3(EVC):c.1612C>G (p.Leu538Val) rs147772724 0.00085
NM_153717.3(EVC):c.2562-3C>T rs375960614 0.00084
NM_153717.3(EVC):c.1770C>T (p.Asp590=) rs141755737 0.00075
NM_153717.3(EVC):c.2322G>C (p.Ala774=) rs150373930 0.00067
NM_153717.3(EVC):c.2449+12C>G rs751678723 0.00066
NM_153717.3(EVC):c.*1592C>T rs193184679 0.00055
NM_153717.3(EVC):c.569G>T (p.Arg190Leu) rs113002470 0.00051
NM_153717.3(EVC):c.*709T>C rs183727253 0.00049
NM_153717.3(EVC):c.*3161A>C rs550678702 0.00046
NM_153717.3(EVC):c.*1069A>G rs13147953 0.00044
NM_153717.3(EVC):c.1653G>A (p.Pro551=) rs151293705 0.00044
NM_153717.3(EVC):c.1540G>A (p.Glu514Lys) rs141896077 0.00042
NM_153717.3(EVC):c.1892C>T (p.Thr631Met) rs139481521 0.00041
NM_153717.3(EVC):c.*858G>A rs544337142 0.00039
NM_153717.3(EVC):c.*198G>A rs181401771 0.00038
NM_153717.3(EVC):c.*1256C>T rs532180814 0.00037
NM_153717.3(EVC):c.*1599C>T rs527297174 0.00037
NM_153717.3(EVC):c.2782+15C>G rs373862588 0.00037
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.2258G>A (p.Arg753Gln) rs146739019 0.00032
NM_153717.3(EVC):c.2805G>A (p.Arg935=) rs143631233 0.00031
NM_153717.3(EVC):c.-139G>A rs779841092 0.00030
NM_153717.3(EVC):c.1928G>A (p.Arg643His) rs144906677 0.00029
NM_153717.3(EVC):c.2132A>G (p.Glu711Gly) rs373726507 0.00028
NM_153717.3(EVC):c.802-12C>T rs61514191 0.00027
NM_153717.3(EVC):c.1797G>A (p.Ala599=) rs199875230 0.00026
NM_153717.3(EVC):c.2276G>A (p.Ser759Asn) rs201776972 0.00025
NM_153717.3(EVC):c.154C>T (p.Arg52Cys) rs932851648 0.00024
NM_153717.3(EVC):c.2350G>A (p.Ala784Thr) rs149537641 0.00024
NM_153717.3(EVC):c.2519C>T (p.Thr840Met) rs143464806 0.00024
NM_153717.3(EVC):c.91G>A (p.Ala31Thr) rs952757087 0.00023
NM_153717.3(EVC):c.442T>C (p.Leu148=) rs139931919 0.00022
NM_153717.3(EVC):c.*302G>A rs560005309 0.00021
NM_153717.3(EVC):c.*3170T>C rs886059519 0.00019
NM_153717.3(EVC):c.1807G>A (p.Val603Met) rs886042994 0.00019
NM_153717.3(EVC):c.53G>T (p.Arg18Leu) rs997054588 0.00019
NM_153717.3(EVC):c.736G>T (p.Asp246Tyr) rs144029167 0.00019
NM_153717.3(EVC):c.*1573T>A rs958649706 0.00017
NM_153717.3(EVC):c.*2808C>T rs558094887 0.00017
NM_153717.3(EVC):c.-163G>A rs989585218 0.00017
NM_153717.3(EVC):c.1495C>G (p.Leu499Val) rs139157869 0.00017
NM_153717.3(EVC):c.1207G>A (p.Gly403Ser) rs183114391 0.00016
NM_153717.3(EVC):c.*907C>T rs71599839 0.00015
NM_153717.3(EVC):c.105C>A (p.Gly35=) rs745558003 0.00015
NM_153717.3(EVC):c.1659G>C (p.Glu553Asp) rs150425919 0.00014
NM_153717.3(EVC):c.2098-10T>C rs774109576 0.00014
NM_153717.3(EVC):c.*1871C>T rs150764469 0.00013
NM_153717.3(EVC):c.*2569C>T rs117573606 0.00013
NM_153717.3(EVC):c.1269G>A (p.Thr423=) rs551881521 0.00013
NM_153717.3(EVC):c.175-10C>T rs113406354 0.00013
NM_153717.3(EVC):c.1818A>C (p.Thr606=) rs202093497 0.00013
NM_153717.3(EVC):c.2041G>A (p.Glu681Lys) rs201877358 0.00013
NM_153717.3(EVC):c.2449+4C>T rs753679138 0.00013
NM_153717.3(EVC):c.*1369G>A rs1414205292 0.00012
NM_153717.3(EVC):c.*1403C>T rs547015924 0.00012
NM_153717.3(EVC):c.1777G>A (p.Val593Met) rs150535483 0.00012
NM_153717.3(EVC):c.*1568C>T rs886059514 0.00011
NM_153717.3(EVC):c.1707G>C (p.Leu569=) rs575586341 0.00011
NM_153717.3(EVC):c.2298C>T (p.Asp766=) rs140546984 0.00011
NM_153717.3(EVC):c.2341G>A (p.Val781Met) rs370514515 0.00011
NM_153717.3(EVC):c.299A>G (p.Asp100Gly) rs1282571678 0.00011
NM_153717.3(EVC):c.612C>T (p.Cys204=) rs553634958 0.00011
NM_153717.3(EVC):c.77C>T (p.Ala26Val) rs1035520087 0.00011
NM_153717.3(EVC):c.982C>T (p.Leu328Phe) rs199916502 0.00011
NM_153717.3(EVC):c.*2847G>A rs935054019 0.00010
NM_153717.3(EVC):c.1102G>A (p.Ala368Thr) rs145645536 0.00010
NM_153717.3(EVC):c.2278C>T (p.Arg760Trp) rs200479973 0.00010
NM_153717.3(EVC):c.677C>T (p.Thr226Met) rs201583621 0.00010
NM_153717.3(EVC):c.*355C>G rs933138943 0.00009
NM_153717.3(EVC):c.1744C>G (p.Leu582Val) rs367863826 0.00009
NM_153717.3(EVC):c.2126G>A (p.Arg709Gln) rs752020764 0.00009
NM_153717.3(EVC):c.2392G>A (p.Gly798Arg) rs142738089 0.00009
NM_153717.3(EVC):c.2752A>G (p.Lys918Glu) rs780968816 0.00009
NM_153717.3(EVC):c.899A>C (p.Glu300Ala) rs149529742 0.00009
NM_153717.3(EVC):c.1523A>G (p.Glu508Gly) rs370721640 0.00008
NM_153717.3(EVC):c.2102C>T (p.Ala701Val) rs571809727 0.00008
NM_153717.3(EVC):c.2641G>T (p.Ala881Ser) rs574700297 0.00008
NM_153717.3(EVC):c.*662G>A rs866110948 0.00007
NM_153717.3(EVC):c.2654A>G (p.Asp885Gly) rs540660500 0.00007
NM_153717.3(EVC):c.511G>A (p.Asp171Asn) rs199904401 0.00007
NM_153717.3(EVC):c.700A>G (p.Met234Val) rs758352741 0.00007
NM_153717.3(EVC):c.*1150A>G rs1195713966 0.00006
NM_153717.3(EVC):c.*1313C>T rs548196260 0.00006
NM_153717.3(EVC):c.*1554A>C rs531598994 0.00006
NM_153717.3(EVC):c.*2321C>T rs928733602 0.00006
NM_153717.3(EVC):c.*2361C>T rs570533057 0.00006
NM_153717.3(EVC):c.*3118C>G rs906071299 0.00006
NM_153717.3(EVC):c.1242C>T (p.Ser414=) rs769206763 0.00006
NM_153717.3(EVC):c.2170C>T (p.Arg724Trp) rs73077515 0.00006
NM_153717.3(EVC):c.2550G>A (p.Ala850=) rs754053651 0.00006
NM_153717.3(EVC):c.940-150T>C rs576076928 0.00006
NM_153717.3(EVC):c.*1766C>T rs1012765159 0.00005
NM_153717.3(EVC):c.*254G>A rs557237233 0.00005
NM_153717.3(EVC):c.1019G>A (p.Arg340Gln) rs775052481 0.00005
NM_153717.3(EVC):c.107C>G (p.Ala36Gly) rs1219807707 0.00005
NM_153717.3(EVC):c.1865G>A (p.Arg622Gln) rs767013073 0.00005
NM_153717.3(EVC):c.2368G>A (p.Val790Met) rs749975914 0.00005
NM_153717.3(EVC):c.2549C>T (p.Ala850Val) rs150509782 0.00005
NM_153717.3(EVC):c.2961G>A (p.Lys987=) rs138808610 0.00005
NM_153717.3(EVC):c.455C>T (p.Pro152Leu) rs371671127 0.00005
NM_153717.3(EVC):c.*104G>A rs753484436 0.00004
NM_153717.3(EVC):c.*2465C>T rs555611922 0.00004
NM_153717.3(EVC):c.*2593C>T rs943646882 0.00004
NM_153717.3(EVC):c.1075G>A (p.Asp359Asn) rs150923920 0.00004
NM_153717.3(EVC):c.1093G>A (p.Ala365Thr) rs370388849 0.00004
NM_153717.3(EVC):c.1825C>T (p.Arg609Trp) rs748220728 0.00004
NM_153717.3(EVC):c.1852G>A (p.Gly618Ser) rs777024713 0.00004
NM_153717.3(EVC):c.2305-6C>T rs781705295 0.00004
NM_153717.3(EVC):c.312G>A (p.Pro104=) rs763930196 0.00004
NM_153717.3(EVC):c.580C>T (p.Arg194Trp) rs757990300 0.00004
NM_153717.3(EVC):c.717T>A (p.Ile239=) rs372312182 0.00004
NM_153717.3(EVC):c.*1071G>C rs1397822380 0.00003
NM_153717.3(EVC):c.*542C>T rs1168888994 0.00003
NM_153717.3(EVC):c.1268C>T (p.Thr423Met) rs764108542 0.00003
NM_153717.3(EVC):c.1349C>T (p.Ala450Val) rs749008952 0.00003
NM_153717.3(EVC):c.1482G>A (p.Leu494=) rs371300088 0.00003
NM_153717.3(EVC):c.1574T>G (p.Phe525Cys) rs771560788 0.00003
NM_153717.3(EVC):c.1652C>T (p.Pro551Leu) rs371682994 0.00003
NM_153717.3(EVC):c.1722C>T (p.Arg574=) rs144637923 0.00003
NM_153717.3(EVC):c.1737G>T (p.Gln579His) rs768788576 0.00003
NM_153717.3(EVC):c.1802C>T (p.Ser601Phe) rs1713205522 0.00003
NM_153717.3(EVC):c.1804A>C (p.Ser602Arg) rs779847840 0.00003
NM_153717.3(EVC):c.1851C>G (p.Arg617=) rs967986192 0.00003
NM_153717.3(EVC):c.1895G>A (p.Arg632Gln) rs535632933 0.00003
NM_153717.3(EVC):c.1956C>T (p.Arg652=) rs535012160 0.00003
NM_153717.3(EVC):c.226C>G (p.Pro76Ala) rs760319292 0.00003
NM_153717.3(EVC):c.2321C>T (p.Ala774Val) rs767144263 0.00003
NM_153717.3(EVC):c.2449+5G>A rs765087806 0.00003
NM_153717.3(EVC):c.2530G>A (p.Ala844Thr) rs541895869 0.00003
NM_153717.3(EVC):c.2555A>T (p.His852Leu) rs951188954 0.00003
NM_153717.3(EVC):c.2743G>C (p.Ala915Pro) rs1350522989 0.00003
NM_153717.3(EVC):c.461A>G (p.Glu154Gly) rs1386247667 0.00003
NM_153717.3(EVC):c.625G>A (p.Val209Ile) rs202026284 0.00003
NM_153717.3(EVC):c.70G>T (p.Ala24Ser) rs1449662223 0.00003
NM_153717.3(EVC):c.884C>G (p.Thr295Ser) rs754532508 0.00003
NM_153717.3(EVC):c.920C>G (p.Ser307Cys) rs372548610 0.00003
NM_153717.3(EVC):c.*869A>G rs79612644 0.00002
NM_153717.3(EVC):c.1074C>T (p.Cys358=) rs921573510 0.00002
NM_153717.3(EVC):c.1186C>T (p.Arg396Trp) rs762412181 0.00002
NM_153717.3(EVC):c.1243G>A (p.Gly415Arg) rs778330232 0.00002
NM_153717.3(EVC):c.1303C>T (p.Arg435Cys) rs756430334 0.00002
NM_153717.3(EVC):c.1448C>T (p.Pro483Leu) rs376440801 0.00002
NM_153717.3(EVC):c.1625C>T (p.Thr542Met) rs764417990 0.00002
NM_153717.3(EVC):c.1776+5G>A rs968001713 0.00002
NM_153717.3(EVC):c.1844C>A (p.Thr615Asn) rs1713216342 0.00002
NM_153717.3(EVC):c.187C>G (p.Gln63Glu) rs371329240 0.00002
NM_153717.3(EVC):c.188A>G (p.Gln63Arg) rs772017175 0.00002
NM_153717.3(EVC):c.1939C>T (p.Arg647Trp) rs770276380 0.00002
NM_153717.3(EVC):c.2231T>C (p.Ile744Thr) rs778342193 0.00002
NM_153717.3(EVC):c.2426T>G (p.Leu809Arg) rs200839198 0.00002
NM_153717.3(EVC):c.2476C>T (p.Arg826Trp) rs369800853 0.00002
NM_153717.3(EVC):c.2516G>A (p.Arg839Lys) rs745451709 0.00002
NM_153717.3(EVC):c.2678C>T (p.Thr893Ile) rs948949808 0.00002
NM_153717.3(EVC):c.2770C>T (p.Arg924Cys) rs772327981 0.00002
NM_153717.3(EVC):c.409C>A (p.Pro137Thr) rs752906200 0.00002
NM_153717.3(EVC):c.626T>C (p.Val209Ala) rs1230866971 0.00002
NM_153717.3(EVC):c.*1008G>A rs1217574266 0.00001
NM_153717.3(EVC):c.*1374G>C rs549720489 0.00001
NM_153717.3(EVC):c.*1446A>G rs754781931 0.00001
NM_153717.3(EVC):c.*1684A>G rs886059515 0.00001
NM_153717.3(EVC):c.*2686G>A rs545215581 0.00001
NM_153717.3(EVC):c.*2922A>C rs886059518 0.00001
NM_153717.3(EVC):c.1082A>G (p.Gln361Arg) rs886043999 0.00001
NM_153717.3(EVC):c.1094C>A (p.Ala365Asp) rs771462565 0.00001
NM_153717.3(EVC):c.1123C>T (p.Arg375Trp) rs368492656 0.00001
NM_153717.3(EVC):c.1203C>T (p.Ser401=) rs867155796 0.00001
NM_153717.3(EVC):c.1232G>A (p.Gly411Glu) rs749715176 0.00001
NM_153717.3(EVC):c.1247G>A (p.Arg416Gln) rs745640537 0.00001
NM_153717.3(EVC):c.1283C>T (p.Ala428Val) rs1409088904 0.00001
NM_153717.3(EVC):c.1315+7C>T rs1252318929 0.00001
NM_153717.3(EVC):c.1315+8G>A rs550411377 0.00001
NM_153717.3(EVC):c.1316-10T>A rs1730755993 0.00001
NM_153717.3(EVC):c.1358C>G (p.Ala453Gly) rs778599838 0.00001
NM_153717.3(EVC):c.136C>T (p.Leu46Phe) rs1246844384 0.00001
NM_153717.3(EVC):c.1441G>C (p.Ala481Pro) rs1484098544 0.00001
NM_153717.3(EVC):c.1462G>A (p.Glu488Lys) rs146232611 0.00001
NM_153717.3(EVC):c.1463A>G (p.Glu488Gly) rs764556070 0.00001
NM_153717.3(EVC):c.147C>T (p.Arg49=) rs1723020172 0.00001
NM_153717.3(EVC):c.1481T>C (p.Leu494Pro) rs2475512478 0.00001
NM_153717.3(EVC):c.1520A>G (p.Glu507Gly) rs202068809 0.00001
NM_153717.3(EVC):c.1638G>T (p.Met546Ile) rs1225766769 0.00001
NM_153717.3(EVC):c.1673G>A (p.Arg558Lys) rs775402958 0.00001
NM_153717.3(EVC):c.1683C>T (p.Val561=) rs913909906 0.00001
NM_153717.3(EVC):c.1693G>A (p.Ala565Thr) rs926749491 0.00001
NM_153717.3(EVC):c.1717A>G (p.Asn573Asp) rs1373148885 0.00001
NM_153717.3(EVC):c.175-9G>A rs753317536 0.00001
NM_153717.3(EVC):c.1787A>C (p.Glu596Ala) rs1460341166 0.00001
NM_153717.3(EVC):c.1821C>G (p.His607Gln) rs779056864 0.00001
NM_153717.3(EVC):c.185C>T (p.Thr62Ile) rs147280107 0.00001
NM_153717.3(EVC):c.1868T>C (p.Leu623Pro) rs1373632260 0.00001
NM_153717.3(EVC):c.1878C>T (p.Leu626=) rs375743004 0.00001
NM_153717.3(EVC):c.1894C>T (p.Arg632Trp) rs368940435 0.00001
NM_153717.3(EVC):c.193C>A (p.Leu65Met) rs140697525 0.00001
NM_153717.3(EVC):c.1942A>G (p.Arg648Gly) rs1418345759 0.00001
NM_153717.3(EVC):c.1955G>A (p.Arg652His) rs765024763 0.00001
NM_153717.3(EVC):c.1957G>A (p.Gly653Ser) rs762716384 0.00001
NM_153717.3(EVC):c.1981C>G (p.Gln661Glu) rs1276607070 0.00001
NM_153717.3(EVC):c.1994C>T (p.Ser665Leu) rs375340438 0.00001
NM_153717.3(EVC):c.2009T>A (p.Leu670His) rs1404936868 0.00001
NM_153717.3(EVC):c.2026G>A (p.Glu676Lys) rs367968708 0.00001
NM_153717.3(EVC):c.2042A>G (p.Glu681Gly) rs1179899572 0.00001
NM_153717.3(EVC):c.2068G>A (p.Glu690Lys) rs773983356 0.00001
NM_153717.3(EVC):c.2114A>G (p.Glu705Gly) rs765248751 0.00001
NM_153717.3(EVC):c.2150C>T (p.Thr717Ile) rs754450020 0.00001
NM_153717.3(EVC):c.2227G>A (p.Ala743Thr) rs574651183 0.00001
NM_153717.3(EVC):c.2294A>G (p.Asp765Gly) rs1408380648 0.00001
NM_153717.3(EVC):c.2305-5C>G rs760071065 0.00001
NM_153717.3(EVC):c.230C>T (p.Ser77Leu) rs766938849 0.00001
NM_153717.3(EVC):c.2375C>T (p.Ala792Val) rs753732049 0.00001
NM_153717.3(EVC):c.2497A>G (p.Asn833Asp) rs754135892 0.00001
NM_153717.3(EVC):c.2500C>T (p.Pro834Ser) rs1395596111 0.00001
NM_153717.3(EVC):c.2510G>A (p.Gly837Asp) rs1474071640 0.00001
NM_153717.3(EVC):c.2522C>T (p.Ala841Val) rs1378303023 0.00001
NM_153717.3(EVC):c.2525G>A (p.Gly842Asp) rs768398433 0.00001
NM_153717.3(EVC):c.2527G>A (p.Gly843Ser) rs774153178 0.00001
NM_153717.3(EVC):c.2624A>T (p.His875Leu) rs200403160 0.00001
NM_153717.3(EVC):c.2653G>A (p.Asp885Asn) rs1241844907 0.00001
NM_153717.3(EVC):c.2732G>A (p.Arg911Gln) rs930402783 0.00001
NM_153717.3(EVC):c.2737C>T (p.Pro913Ser) rs140508599 0.00001
NM_153717.3(EVC):c.2740C>T (p.Leu914Phe) rs370825749 0.00001
NM_153717.3(EVC):c.2761C>T (p.Pro921Ser) rs771505230 0.00001
NM_153717.3(EVC):c.2783-3C>A rs777914346 0.00001
NM_153717.3(EVC):c.2821C>T (p.Gln941Ter) rs896581899 0.00001
NM_153717.3(EVC):c.2858A>T (p.Asp953Val) rs544720936 0.00001
NM_153717.3(EVC):c.2859C>A (p.Asp953Glu) rs751735837 0.00001
NM_153717.3(EVC):c.2885G>T (p.Gly962Val) rs1716713715 0.00001
NM_153717.3(EVC):c.300+3A>G rs1724558934 0.00001
NM_153717.3(EVC):c.339C>T (p.Phe113=) rs750461424 0.00001
NM_153717.3(EVC):c.340G>A (p.Ala114Thr) rs756208272 0.00001
NM_153717.3(EVC):c.364C>T (p.Pro122Ser) rs1407007311 0.00001
NM_153717.3(EVC):c.367A>G (p.Ile123Val) rs772569904 0.00001
NM_153717.3(EVC):c.388C>T (p.Leu130=) rs886059496 0.00001
NM_153717.3(EVC):c.499G>A (p.Gly167Ser) rs567701930 0.00001
NM_153717.3(EVC):c.49G>A (p.Gly17Arg) rs1722991667 0.00001
NM_153717.3(EVC):c.536A>G (p.His179Arg) rs1726826002 0.00001
NM_153717.3(EVC):c.568C>T (p.Arg190Cys) rs1286815295 0.00001
NM_153717.3(EVC):c.581G>A (p.Arg194Gln) rs777256784 0.00001
NM_153717.3(EVC):c.58G>C (p.Ala20Pro) rs1359522467 0.00001
NM_153717.3(EVC):c.698A>C (p.His233Pro) rs769431829 0.00001
NM_153717.3(EVC):c.823G>A (p.Gly275Arg) rs1206421778 0.00001
NM_153717.3(EVC):c.835_837del (p.Lys279del) rs761463883 0.00001
NM_153717.3(EVC):c.853A>G (p.Met285Val) rs1464387798 0.00001
NM_153717.3(EVC):c.866G>A (p.Gly289Asp) rs1347479870 0.00001
NM_153717.3(EVC):c.86C>T (p.Ala29Val) rs1314509668 0.00001
NM_153717.3(EVC):c.878A>G (p.Tyr293Cys) rs1252316234 0.00001
NM_153717.3(EVC):c.923A>G (p.Glu308Gly) rs1032117694 0.00001
NM_153717.3(EVC):c.928C>G (p.Leu310Val) rs145300726 0.00001
NM_153717.3(EVC):c.935A>G (p.Asp312Gly) rs1396392046 0.00001
NM_153717.3(EVC):c.940A>G (p.Met314Val) rs557010916 0.00001
GRCh37/hg19 4p16.2(chr4:5720274-5800154)x1
GRCh37/hg19 4p16.2(chr4:5731073-5762301)x3
GRCh38/hg38 4p16.2(chr4:5720860-5741769)x3
NC_000004.11:g.(?_5720955)_(5721120_?)del
NM_153717.3(EVC):c.*1019A>C rs13147919
NM_153717.3(EVC):c.*1073C>T rs1271610715
NM_153717.3(EVC):c.*1176C>A rs13121710
NM_153717.3(EVC):c.*1199G>A rs1315669218
NM_153717.3(EVC):c.*1257G>T rs1013315409
NM_153717.3(EVC):c.*1277A>C rs1259649075
NM_153717.3(EVC):c.*1338C>T rs1717063885
NM_153717.3(EVC):c.*1394T>C rs1375474161
NM_153717.3(EVC):c.*1395C>T rs886059513
NM_153717.3(EVC):c.*1428C>G rs574764934
NM_153717.3(EVC):c.*1512T>C rs576620294
NM_153717.3(EVC):c.*1515A>T rs545639856
NM_153717.3(EVC):c.*2303T>A rs915952245
NM_153717.3(EVC):c.*2349T>C rs886059517
NM_153717.3(EVC):c.*2468C>G rs1717227616
NM_153717.3(EVC):c.*2490C>G rs145238482
NM_153717.3(EVC):c.*2490C>T rs145238482
NM_153717.3(EVC):c.*2692G>A rs149155153
NM_153717.3(EVC):c.*274C>G rs758225073
NM_153717.3(EVC):c.*3046G>C rs934986465
NM_153717.3(EVC):c.*3121C>G rs1717320370
NM_153717.3(EVC):c.*367C>T rs886059510
NM_153717.3(EVC):c.*3T>G rs368249789
NM_153717.3(EVC):c.*582C>A rs1716916256
NM_153717.3(EVC):c.*619C>G rs1716921490
NM_153717.3(EVC):c.*704_*705insTT rs886059511
NM_153717.3(EVC):c.*844C>G rs1180694671
NM_153717.3(EVC):c.*877C>T rs886059512
NM_153717.3(EVC):c.*956C>G rs761012202
NM_153717.3(EVC):c.*967T>G rs182343325
NM_153717.3(EVC):c.-138GA[1] rs886059494
NM_153717.3(EVC):c.1019G>C (p.Arg340Pro)
NM_153717.3(EVC):c.1031T>C (p.Met344Thr) rs1332636947
NM_153717.3(EVC):c.1041G>A (p.Thr347=) rs148418233
NM_153717.3(EVC):c.104G>A (p.Gly35Asp) rs1560259105
NM_153717.3(EVC):c.1050G>C (p.Met350Ile) rs1729670311
NM_153717.3(EVC):c.1060G>A (p.Glu354Lys) rs779915989
NM_153717.3(EVC):c.1075G>T (p.Asp359Tyr)
NM_153717.3(EVC):c.1078T>C (p.Ser360Pro) rs1729675412
NM_153717.3(EVC):c.1084_1086del (p.Glu362del) rs1553873980
NM_153717.3(EVC):c.1099-19_1099-18inv
NM_153717.3(EVC):c.1102G>C (p.Ala368Pro) rs145645536
NM_153717.3(EVC):c.1102G>T (p.Ala368Ser)
NM_153717.3(EVC):c.1109A>T (p.Glu370Val) rs778032532
NM_153717.3(EVC):c.1113G>T (p.Arg371Ser)
NM_153717.3(EVC):c.1118T>C (p.Met373Thr)
NM_153717.3(EVC):c.1119G>A (p.Met373Ile) rs1397539769
NM_153717.3(EVC):c.1124G>A (p.Arg375Gln)
NM_153717.3(EVC):c.1132A>G (p.Met378Val)
NM_153717.3(EVC):c.1135G>T (p.Ala379Ser) rs760174792
NM_153717.3(EVC):c.1141G>A (p.Val381Met) rs2152076238
NM_153717.3(EVC):c.1145T>C (p.Ile382Thr) rs886059505
NM_153717.3(EVC):c.114CGGCCT[1] (p.39GL[1]) rs1164121689
NM_153717.3(EVC):c.114CGGCCT[4] (p.39GL[4]) rs1164121689
NM_153717.3(EVC):c.1169A>G (p.Gln390Arg)
NM_153717.3(EVC):c.1180A>G (p.Arg394Gly) rs2475382158
NM_153717.3(EVC):c.1186C>G (p.Arg396Gly) rs762412181
NM_153717.3(EVC):c.1187G>A (p.Arg396Gln) rs542667023
NM_153717.3(EVC):c.1198A>G (p.Ile400Val)
NM_153717.3(EVC):c.1207G>C (p.Gly403Arg) rs183114391
NM_153717.3(EVC):c.1222G>T (p.Ala408Ser)
NM_153717.3(EVC):c.1226G>T (p.Gly409Val) rs1577440027
NM_153717.3(EVC):c.124C>A (p.Leu42Ile)
NM_153717.3(EVC):c.1252_1254del (p.Lys418del) rs1553875708
NM_153717.3(EVC):c.1258G>A (p.Glu420Lys) rs373502728
NM_153717.3(EVC):c.1269GCA[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.1312C>T (p.Arg438Trp) rs754239541
NM_153717.3(EVC):c.1316A>T (p.Glu439Val)
NM_153717.3(EVC):c.1336G>T (p.Asp446Tyr) rs1286504042
NM_153717.3(EVC):c.1360C>T (p.His454Tyr)
NM_153717.3(EVC):c.1379C>T (p.Ala460Val) rs1309149029
NM_153717.3(EVC):c.1388C>G (p.Thr463Arg) rs1473605830
NM_153717.3(EVC):c.1390C>G (p.Leu464Val) rs986329571
NM_153717.3(EVC):c.1409A>G (p.Gln470Arg)
NM_153717.3(EVC):c.1409_1420dup (p.Phe473_Leu474insGlnArgSerPhe) rs2475424805
NM_153717.3(EVC):c.1454A>C (p.Lys485Thr) rs2475426865
NM_153717.3(EVC):c.1458T>G (p.Phe486Leu)
NM_153717.3(EVC):c.145C>G (p.Arg49Gly)
NM_153717.3(EVC):c.1465-5C>T rs1731155996
NM_153717.3(EVC):c.1493G>T (p.Arg498Met) rs1577453796
NM_153717.3(EVC):c.1527T>G (p.Asn509Lys)
NM_153717.3(EVC):c.1528G>A (p.Val510Ile) rs143971158
NM_153717.3(EVC):c.1528G>C (p.Val510Leu) rs143971158
NM_153717.3(EVC):c.154C>G (p.Arg52Gly) rs932851648
NM_153717.3(EVC):c.1564-3C>T rs747435572
NM_153717.3(EVC):c.1589C>T (p.Thr530Ile) rs1735956373
NM_153717.3(EVC):c.1595A>G (p.Gln532Arg) rs2476466696
NM_153717.3(EVC):c.1603G>A (p.Val535Met) rs753720935
NM_153717.3(EVC):c.1603G>T (p.Val535Leu) rs753720935
NM_153717.3(EVC):c.1607A>G (p.Asp536Gly)
NM_153717.3(EVC):c.1607A>T (p.Asp536Val) rs1735959170
NM_153717.3(EVC):c.1623G>T (p.Gln541His) rs2152288778
NM_153717.3(EVC):c.1631C>T (p.Pro544Leu) rs2476468205
NM_153717.3(EVC):c.1648C>G (p.Pro550Ala) rs778234206
NM_153717.3(EVC):c.1649C>A (p.Pro550His) rs747739985
NM_153717.3(EVC):c.1651C>G (p.Pro551Ala) rs1255415484
NM_153717.3(EVC):c.1652C>G (p.Pro551Arg) rs371682994
NM_153717.3(EVC):c.1673G>T (p.Arg558Met) rs775402958
NM_153717.3(EVC):c.1687G>A (p.Glu563Lys) rs539010490
NM_153717.3(EVC):c.1696G>A (p.Ala566Thr) rs144943762
NM_153717.3(EVC):c.1696G>C (p.Ala566Pro) rs144943762
NM_153717.3(EVC):c.1720C>G (p.Arg574Gly) rs141820870
NM_153717.3(EVC):c.1720C>T (p.Arg574Cys) rs141820870
NM_153717.3(EVC):c.1727G>T (p.Arg576Leu) rs1383180
NM_153717.3(EVC):c.1765C>G (p.Gln589Glu) rs1736003818
NM_153717.3(EVC):c.1776+4C>T rs761724907
NM_153717.3(EVC):c.1776+7del rs540001390
NM_153717.3(EVC):c.1777-9C>T rs113468936
NM_153717.3(EVC):c.1786GAG[1] (p.Glu597del) rs764533114
NM_153717.3(EVC):c.1850G>A (p.Arg617His)
NM_153717.3(EVC):c.1850G>T (p.Arg617Leu) rs771110251
NM_153717.3(EVC):c.1854_1855delinsTA (p.Val619Ile) rs2474307427
NM_153717.3(EVC):c.1895G>C (p.Arg632Pro) rs535632933
NM_153717.3(EVC):c.1907A>G (p.Gln636Arg) rs757227773
NM_153717.3(EVC):c.1922_1927del (p.Leu641_Leu642del) rs1553891170
NM_153717.3(EVC):c.1940G>A (p.Arg647Gln) rs35401386
NM_153717.3(EVC):c.1940G>C (p.Arg647Pro) rs35401386
NM_153717.3(EVC):c.1940_1951del (p.Arg647_Ala650del) rs1553891205
NM_153717.3(EVC):c.1949C>T (p.Ala650Val) rs2474382537
NM_153717.3(EVC):c.1954C>T (p.Arg652Cys)
NM_153717.3(EVC):c.1969G>C (p.Ala657Pro) rs909084300
NM_153717.3(EVC):c.1972A>T (p.Thr658Ser) rs1577616840
NM_153717.3(EVC):c.1979C>T (p.Thr660Met) rs550100215
NM_153717.3(EVC):c.1987C>T (p.Arg663Trp) rs867240492
NM_153717.3(EVC):c.1988G>C (p.Arg663Pro) rs372089496
NM_153717.3(EVC):c.2021T>G (p.Leu674Arg)
NM_153717.3(EVC):c.2023C>T (p.Arg675Trp) rs372267517
NM_153717.3(EVC):c.2032C>T (p.Arg678Cys)
NM_153717.3(EVC):c.2033G>A (p.Arg678His)
NM_153717.3(EVC):c.2096T>C (p.Leu699Pro) rs2152340934
NM_153717.3(EVC):c.2101G>T (p.Ala701Ser) rs1418368750
NM_153717.3(EVC):c.2104C>G (p.Arg702Gly) rs545087909
NM_153717.3(EVC):c.2104C>T (p.Arg702Cys) rs545087909
NM_153717.3(EVC):c.2105G>A (p.Arg702His) rs200899957
NM_153717.3(EVC):c.2114AGG[1] (p.Glu706del) rs1553891884
NM_153717.3(EVC):c.2131G>C (p.Glu711Gln) rs1430134537
NM_153717.3(EVC):c.2134G>A (p.Glu712Lys) rs2474423140
NM_153717.3(EVC):c.2143C>G (p.Gln715Glu) rs971647538
NM_153717.3(EVC):c.2152C>G (p.Arg718Gly)
NM_153717.3(EVC):c.2152C>T (p.Arg718Trp) rs778287269
NM_153717.3(EVC):c.218C>T (p.Ala73Val) rs1361442490
NM_153717.3(EVC):c.2204T>C (p.Leu735Pro)
NM_153717.3(EVC):c.2257C>T (p.Arg753Trp) rs770696062
NM_153717.3(EVC):c.2264C>T (p.Ala755Val)
NM_153717.3(EVC):c.2311C>A (p.Leu771Met)
NM_153717.3(EVC):c.2314A>G (p.Met772Val)
NM_153717.3(EVC):c.2322G>A (p.Ala774=) rs150373930
NM_153717.3(EVC):c.2335G>A (p.Val779Ile) rs376396220
NM_153717.3(EVC):c.2339A>C (p.Tyr780Ser) rs773252806
NM_153717.3(EVC):c.2339A>G (p.Tyr780Cys) rs773252806
NM_153717.3(EVC):c.2345C>T (p.Thr782Ile)
NM_153717.3(EVC):c.2350G>T (p.Ala784Ser) rs149537641
NM_153717.3(EVC):c.235A>G (p.Thr79Ala) rs2474375311
NM_153717.3(EVC):c.2391C>T (p.Ile797=) rs202236029
NM_153717.3(EVC):c.2395A>G (p.Arg799Gly) rs1715095634
NM_153717.3(EVC):c.2415G>T (p.Glu805Asp) rs886059506
NM_153717.3(EVC):c.2424A>T (p.Lys808Asn) rs1715100620
NM_153717.3(EVC):c.2434C>G (p.Leu812Val)
NM_153717.3(EVC):c.2440_2445dup (p.Thr814_Leu815dup) rs1553893407
NM_153717.3(EVC):c.2441C>T (p.Thr814Ile) rs1715104252
NM_153717.3(EVC):c.2449+10C>A rs758387379
NM_153717.3(EVC):c.2449+1G>A rs1553893423
NM_153717.3(EVC):c.2449+8del rs886059507
NM_153717.3(EVC):c.2450G>A (p.Gly817Asp) rs2474564189
NM_153717.3(EVC):c.2467T>C (p.Tyr823His)
NM_153717.3(EVC):c.248C>T (p.Ser83Leu) rs886059495
NM_153717.3(EVC):c.2504C>A (p.Ser835Ter) rs1560439043
NM_153717.3(EVC):c.2524G>A (p.Gly842Ser) rs1446692986
NM_153717.3(EVC):c.252del (p.Arg85fs) rs1560274387
NM_153717.3(EVC):c.2554C>G (p.His852Asp) rs574669392
NM_153717.3(EVC):c.255G>C (p.Arg85Ser) rs2474375943
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.2562-3del rs780164400
NM_153717.3(EVC):c.2580G>C (p.Lys860Asn) rs1264987350
NM_153717.3(EVC):c.2602G>A (p.Val868Met)
NM_153717.3(EVC):c.2606A>G (p.His869Arg) rs1560445414
NM_153717.3(EVC):c.2617C>T (p.Arg873Cys) rs762346358
NM_153717.3(EVC):c.2618G>A (p.Arg873His) rs767972554
NM_153717.3(EVC):c.2632C>G (p.Gln878Glu) rs2474655499
NM_153717.3(EVC):c.2656C>G (p.Leu886Val)
NM_153717.3(EVC):c.2688+4_2688+5insGGTCTCCAGCTACAGGTAC rs1553895769
NM_153717.3(EVC):c.2714A>G (p.Glu905Gly) rs2474684847
NM_153717.3(EVC):c.2759T>G (p.Leu920Trp)
NM_153717.3(EVC):c.276G>A (p.Met92Ile)
NM_153717.3(EVC):c.2771G>A (p.Arg924His)
NM_153717.3(EVC):c.2782G>C (p.Glu928Gln) rs1489027267
NM_153717.3(EVC):c.278C>G (p.Ser93Trp)
NM_153717.3(EVC):c.2829_2830del (p.Asp945fs) rs1460851298
NM_153717.3(EVC):c.2842G>A (p.Val948Met) rs752591755
NM_153717.3(EVC):c.2842del (p.Val948fs) rs1553896459
NM_153717.3(EVC):c.2842dup (p.Val948fs) rs1553896459
NM_153717.3(EVC):c.2863G>T (p.Ala955Ser) rs2152394584
NM_153717.3(EVC):c.2878A>G (p.Thr960Ala) rs2152394644
NM_153717.3(EVC):c.2879C>G (p.Thr960Ser) rs780548102
NM_153717.3(EVC):c.2893dup (p.Ser965fs) rs1553896497
NM_153717.3(EVC):c.2894+13C>T rs886059508
NM_153717.3(EVC):c.2894+18_2894+19delinsGA rs2474708679
NM_153717.3(EVC):c.2894+4T>A rs746636411
NM_153717.3(EVC):c.2895-16_2895-13del rs773917688
NM_153717.3(EVC):c.2897_2918dup (p.Ser974fs) rs1560450412
NM_153717.3(EVC):c.2916_2935del (p.Glu973fs) rs1553896708
NM_153717.3(EVC):c.2920del (p.Ser974fs) rs1370417156
NM_153717.3(EVC):c.2925A>C (p.Glu975Asp) rs1399872123
NM_153717.3(EVC):c.2927C>T (p.Ala976Val) rs1716832971
NM_153717.3(EVC):c.2930G>A (p.Gly977Glu) rs749142395
NM_153717.3(EVC):c.2932G>A (p.Asp978Asn) rs150173231
NM_153717.3(EVC):c.2932G>T (p.Asp978Tyr) rs150173231
NM_153717.3(EVC):c.2964AAG[1] (p.Arg989del) rs777071486
NM_153717.3(EVC):c.2970C>A (p.Ser990Arg) rs1716842535
NM_153717.3(EVC):c.303_308del (p.Cys102_Glu103del) rs1553865272
NM_153717.3(EVC):c.340G>T (p.Ala114Ser) rs756208272
NM_153717.3(EVC):c.343C>G (p.Leu115Val)
NM_153717.3(EVC):c.34G>C (p.Ala12Pro) rs1369066723
NM_153717.3(EVC):c.384+5G>C rs1553865348
NM_153717.3(EVC):c.385-3C>T rs2151934859
NM_153717.3(EVC):c.40CTG[2] (p.Leu16del) rs1553857864
NM_153717.3(EVC):c.410C>T (p.Pro137Leu) rs2474667581
NM_153717.3(EVC):c.421G>C (p.Glu141Gln)
NM_153717.3(EVC):c.426C>G (p.Asn142Lys)
NM_153717.3(EVC):c.437C>G (p.Ala146Gly) rs2151935147
NM_153717.3(EVC):c.439G>C (p.Val147Leu)
NM_153717.3(EVC):c.454C>G (p.Pro152Ala)
NM_153717.3(EVC):c.46C>T (p.Leu16=) rs1722990488
NM_153717.3(EVC):c.493A>G (p.Ser165Gly) rs1259803475
NM_153717.3(EVC):c.498G>C (p.Gln166His)
NM_153717.3(EVC):c.49G>T (p.Gly17Trp) rs1722991667
NM_153717.3(EVC):c.52C>T (p.Arg18Trp)
NM_153717.3(EVC):c.535C>T (p.His179Tyr) rs1462719842
NM_153717.3(EVC):c.547A>G (p.Ser183Gly) rs941367607
NM_153717.3(EVC):c.569G>A (p.Arg190His)
NM_153717.3(EVC):c.56A>T (p.Asp19Val) rs2474193642
NM_153717.3(EVC):c.581G>C (p.Arg194Pro) rs777256784
NM_153717.3(EVC):c.587A>G (p.Asn196Ser) rs1390544058
NM_153717.3(EVC):c.589G>T (p.Ala197Ser) rs115507440
NM_153717.3(EVC):c.632T>A (p.Leu211Gln) rs982677323
NM_153717.3(EVC):c.650A>G (p.His217Arg)
NM_153717.3(EVC):c.65G>C (p.Arg22Pro) rs2151767266
NM_153717.3(EVC):c.696G>C (p.Lys232Asn) rs371664035
NM_153717.3(EVC):c.698A>G (p.His233Arg) rs769431829
NM_153717.3(EVC):c.702G>A (p.Met234Ile)
NM_153717.3(EVC):c.705G>A (p.Met235Ile) rs1254905640
NM_153717.3(EVC):c.719T>G (p.Phe240Cys) rs2152000493
NM_153717.3(EVC):c.725T>C (p.Met242Thr)
NM_153717.3(EVC):c.726G>A (p.Met242Ile) rs759147384
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.734T>A (p.Leu245His) rs2474945632
NM_153717.3(EVC):c.740TTC[1] (p.Leu248del) rs1278946084
NM_153717.3(EVC):c.751AAG[1] (p.Lys252del) rs1232712590
NM_153717.3(EVC):c.754A>G (p.Lys252Glu)
NM_153717.3(EVC):c.76G>T (p.Ala26Ser) rs1171886869
NM_153717.3(EVC):c.778A>C (p.Lys260Gln)
NM_153717.3(EVC):c.79_93del (p.Leu27_Ala31del) rs1553857904
NM_153717.3(EVC):c.802-15_802-9delinsT rs1577406898
NM_153717.3(EVC):c.802-17TTC[3] rs370315662
NM_153717.3(EVC):c.809A>C (p.Glu270Ala) rs1428021249
NM_153717.3(EVC):c.82C>A (p.Leu28Met) rs1723001259
NM_153717.3(EVC):c.83T>C (p.Leu28Pro) rs1256100832
NM_153717.3(EVC):c.844A>G (p.Asn282Asp)
NM_153717.3(EVC):c.857C>G (p.Ser286Trp) rs139263450
NM_153717.3(EVC):c.860G>T (p.Gly287Val) rs2475059474
NM_153717.3(EVC):c.88C>A (p.Pro30Thr) rs991390298
NM_153717.3(EVC):c.88C>G (p.Pro30Ala)
NM_153717.3(EVC):c.939+5G>A
NM_153717.3(EVC):c.939T>A (p.Asn313Lys) rs764394644
NM_153717.3(EVC):c.99_113dup (p.Leu34_Leu38dup) rs1229967881

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.