ClinVar Miner

List of variants in gene CEL reported as uncertain significance

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Gene type:
ClinVar version:
Total variants: 212
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HGVS dbSNP gnomAD frequency
NM_001807.6(CEL):c.1966G>C (p.Ala656Pro) rs587780309 0.00172
NM_001807.6(CEL):c.2172del (p.Val725fs) rs780419796 0.00115
NM_001807.6(CEL):c.1835C>G (p.Ala612Gly) rs1329061274 0.00061
NM_001807.6(CEL):c.1799G>A (p.Gly600Glu) rs777818976 0.00037
NM_001807.6(CEL):c.1436C>T (p.Thr479Ile) rs201677850 0.00035
NM_001807.6(CEL):c.347G>A (p.Arg116Gln) rs199675811 0.00032
NM_001807.6(CEL):c.239T>C (p.Phe80Ser) rs371426439 0.00020
NM_001807.6(CEL):c.878C>T (p.Pro293Leu) rs201066180 0.00020
NM_001807.6(CEL):c.2164G>A (p.Ala722Thr) rs202034862 0.00017
NM_001807.6(CEL):c.472G>A (p.Val158Met) rs190538939 0.00015
NM_001807.6(CEL):c.358G>A (p.Val120Ile) rs201336247 0.00011
NM_001807.6(CEL):c.2092T>G (p.Ser698Ala) rs587780310 0.00010
NM_001807.6(CEL):c.1079C>T (p.Thr360Met) rs756798951 0.00008
NM_001807.6(CEL):c.1658C>T (p.Thr553Ile) rs377596037 0.00008
NM_001807.6(CEL):c.1777G>A (p.Val593Met) rs763405407 0.00007
NM_001807.6(CEL):c.1795T>G (p.Ser599Ala) rs1461795570 0.00007
NM_001807.6(CEL):c.709A>G (p.Ile237Val) rs368907057 0.00007
NM_001807.6(CEL):c.1412C>T (p.Thr471Met) rs199524286 0.00006
NM_001807.6(CEL):c.860C>T (p.Thr287Met) rs773990119 0.00006
NM_001807.6(CEL):c.203A>T (p.His68Leu) rs768467824 0.00005
NM_001807.6(CEL):c.73G>A (p.Ala25Thr) rs779607772 0.00005
NM_001807.6(CEL):c.1932G>C (p.Gly644=) rs587780307 0.00004
NM_001807.6(CEL):c.496G>A (p.Gly166Ser) rs556574063 0.00004
NM_001807.6(CEL):c.874G>T (p.Val292Leu) rs868527871 0.00004
NM_001807.6(CEL):c.998T>C (p.Ile333Thr) rs368511384 0.00004
NM_001807.6(CEL):c.1379A>G (p.Gln460Arg) rs775977271 0.00003
NM_001807.6(CEL):c.1850C>A (p.Pro617His) rs1478570731 0.00003
NM_001807.6(CEL):c.1939C>G (p.Pro647Ala) rs1461682199 0.00003
NM_001807.6(CEL):c.2123A>T (p.Asp708Val) rs761709433 0.00003
NM_001807.6(CEL):c.341-83C>T rs904614219 0.00003
NM_001807.6(CEL):c.400G>A (p.Gly134Ser) rs377284693 0.00003
NM_001807.6(CEL):c.1333C>G (p.Pro445Ala) rs751702926 0.00002
NM_001807.6(CEL):c.1351G>C (p.Val451Leu) rs369763536 0.00002
NM_001807.6(CEL):c.1402G>A (p.Ala468Thr) rs777913068 0.00002
NM_001807.6(CEL):c.1810G>A (p.Val604Met) rs1370187583 0.00002
NM_001807.6(CEL):c.2035C>T (p.Pro679Ser) rs1480335766 0.00002
NM_001807.6(CEL):c.2041G>A (p.Val681Met) rs766684763 0.00002
NM_001807.6(CEL):c.2130G>T (p.Glu710Asp) rs1473715371 0.00002
NM_001807.6(CEL):c.2241G>A (p.Met747Ile) rs553844102 0.00002
NM_001807.6(CEL):c.341-2A>G rs755075929 0.00002
NM_001807.6(CEL):c.382G>A (p.Ala128Thr) rs1269812562 0.00002
NM_001807.6(CEL):c.895+2dup rs1027973097 0.00002
NM_001807.6(CEL):c.1165G>A (p.Glu389Lys) rs1226275795 0.00001
NM_001807.6(CEL):c.1366G>A (p.Ala456Thr) rs2480920 0.00001
NM_001807.6(CEL):c.1367C>G (p.Ala456Gly) rs397834568 0.00001
NM_001807.6(CEL):c.1624T>C (p.Trp542Arg) rs1441466735 0.00001
NM_001807.6(CEL):c.1742C>A (p.Pro581His) rs1367376888 0.00001
NM_001807.6(CEL):c.178A>G (p.Lys60Glu) rs1433124386 0.00001
NM_001807.6(CEL):c.2165C>T (p.Ala722Val) rs774058715 0.00001
NM_001807.6(CEL):c.217+34C>T rs778382071 0.00001
NM_001807.6(CEL):c.439G>A (p.Gly147Ser) rs778447237 0.00001
NM_001807.6(CEL):c.526G>A (p.Ala176Thr) rs746372103 0.00001
NM_001807.6(CEL):c.572T>A (p.Ile191Asn) rs1388281999 0.00001
NM_001807.6(CEL):c.626C>T (p.Thr209Met) rs747153235 0.00001
NM_001807.6(CEL):c.687C>T (p.Asn229=) rs1554732495 0.00001
NM_001807.6(CEL):c.717G>T (p.Gln239His) rs372624029 0.00001
NM_001807.6(CEL):c.85G>A (p.Glu29Lys) rs760813735 0.00001
NM_001807.6(CEL):c.883G>T (p.Ala295Ser) rs765533068 0.00001
NM_001807.6(CEL):c.893A>C (p.Glu298Ala) rs377579138 0.00001
NM_001807.6(CEL):c.973G>A (p.Ala325Thr) rs1456657894 0.00001
NM_001807.6(CEL):c.979G>A (p.Ala327Thr) rs751119069 0.00001
CEL, 3-REPEAT VNTR
NM_001807.6(CEL):c.-13G>A rs2119054429
NM_001807.6(CEL):c.1039A>G (p.Ile347Val) rs1291165567
NM_001807.6(CEL):c.1054A>G (p.Ile352Val)
NM_001807.6(CEL):c.1087G>C (p.Asp363His)
NM_001807.6(CEL):c.1097A>G (p.Lys366Arg) rs1203705524
NM_001807.6(CEL):c.109A>C (p.Asn37His)
NM_001807.6(CEL):c.110A>G (p.Asn37Ser)
NM_001807.6(CEL):c.1138G>A (p.Ala380Thr)
NM_001807.6(CEL):c.1145C>T (p.Thr382Met) rs774313114
NM_001807.6(CEL):c.11T>C (p.Leu4Pro)
NM_001807.6(CEL):c.1211TGG[1] (p.Val405del) rs2119067097
NM_001807.6(CEL):c.1244T>G (p.Val415Gly) rs1356173832
NM_001807.6(CEL):c.1283C>T (p.Ala428Val) rs1830229236
NM_001807.6(CEL):c.1294A>G (p.Lys432Glu)
NM_001807.6(CEL):c.1296G>T (p.Lys432Asn)
NM_001807.6(CEL):c.1327C>T (p.Arg443Trp)
NM_001807.6(CEL):c.1328G>A (p.Arg443Gln)
NM_001807.6(CEL):c.1341C>A (p.Tyr447Ter)
NM_001807.6(CEL):c.1347A>T (p.Lys449Asn)
NM_001807.6(CEL):c.1353G>A (p.Val451=)
NM_001807.6(CEL):c.1360G>A (p.Asp454Asn)
NM_001807.6(CEL):c.1360G>C (p.Asp454His)
NM_001807.6(CEL):c.1398del (p.Phe467fs)
NM_001807.6(CEL):c.1405A>C (p.Thr469Pro)
NM_001807.6(CEL):c.1410_1411delinsACTC (p.Thr471fs) rs2490435311
NM_001807.6(CEL):c.1411A>T (p.Thr471Ser)
NM_001807.6(CEL):c.1412C>A (p.Thr471Lys) rs199524286
NM_001807.6(CEL):c.1413G>A (p.Thr471=) rs779571761
NM_001807.6(CEL):c.1421G>A (p.Arg474Gln)
NM_001807.6(CEL):c.1427A>C (p.Gln476Pro)
NM_001807.6(CEL):c.1427A>G (p.Gln476Arg) rs201074543
NM_001807.6(CEL):c.1447G>A (p.Ala483Thr)
NM_001807.6(CEL):c.1456G>A (p.Ala486Thr)
NM_001807.6(CEL):c.1468A>C (p.Asn490His)
NM_001807.6(CEL):c.1493A>C (p.Asn498Thr)
NM_001807.6(CEL):c.1510G>A (p.Val504Met)
NM_001807.6(CEL):c.1537A>G (p.Thr513Ala)
NM_001807.6(CEL):c.1538C>T (p.Thr513Met)
NM_001807.6(CEL):c.1539G>A (p.Thr513=)
NM_001807.6(CEL):c.1564A>G (p.Thr522Ala)
NM_001807.6(CEL):c.1643C>A (p.Ala548Glu) rs529664291
NM_001807.6(CEL):c.166G>A (p.Ala56Thr)
NM_001807.6(CEL):c.1673_1684delinsGTTCCATGCCCT (p.Thr558_Pro562delinsSerSerMetProSer) rs2119070291
NM_001807.6(CEL):c.1674_1706del (p.557ATPVPPTGDSE[1])
NM_001807.6(CEL):c.1676C>T (p.Pro559Leu)
NM_001807.6(CEL):c.1682C>T (p.Pro561Leu)
NM_001807.6(CEL):c.1696T>C (p.Ser566Pro)
NM_001807.6(CEL):c.1699G>A (p.Glu567Lys)
NM_001807.6(CEL):c.1700_1738delinsGGGCCC (p.Glu567_Ala580delinsGlyAlaPro)
NM_001807.6(CEL):c.1705_1737del (p.Thr569_Thr579del)
NM_001807.6(CEL):c.1706C>T (p.Thr569Ile) rs1830259025
NM_001807.6(CEL):c.1723G>C (p.Gly575Arg)
NM_001807.6(CEL):c.1727A>G (p.Asp576Gly)
NM_001807.6(CEL):c.1734G>C (p.Glu578Asp) rs1249360244
NM_001807.6(CEL):c.1742C>G (p.Pro581Arg)
NM_001807.6(CEL):c.1744G>A (p.Val582Met)
NM_001807.6(CEL):c.1745T>C (p.Val582Ala)
NM_001807.6(CEL):c.1747C>A (p.Pro583Thr) rs1172388702
NM_001807.6(CEL):c.1759G>A (p.Asp587Asn)
NM_001807.6(CEL):c.1771C>T (p.Pro591Ser)
NM_001807.6(CEL):c.1776dup (p.Val593fs) rs193922638
NM_001807.6(CEL):c.1798G>A (p.Gly600Arg)
NM_001807.6(CEL):c.1801del (p.Ala601fs)
NM_001807.6(CEL):c.1802C>G (p.Ala601Gly) rs745472616
NM_001807.6(CEL):c.1834G>C (p.Ala612Pro) rs1322454680
NM_001807.6(CEL):c.1840C>G (p.Pro614Ala) rs1196132241
NM_001807.6(CEL):c.1861T>G (p.Ser621Ala)
NM_001807.6(CEL):c.1946C>T (p.Pro649Leu)
NM_001807.6(CEL):c.1960T>G (p.Ser654Ala) rs587780308
NM_001807.6(CEL):c.1974del (p.Val659fs) rs1341981506
NM_001807.6(CEL):c.2008_2039del (p.Val670fs)
NM_001807.6(CEL):c.2029G>T (p.Gly677Trp) rs984492184
NM_001807.6(CEL):c.2031_2063dup (p.Gly688_Ala689insProProProValProProThrGlyAspSerGly)
NM_001807.6(CEL):c.2038C>A (p.Pro680Thr)
NM_001807.6(CEL):c.2040del (p.Val681fs) rs763199261
NM_001807.6(CEL):c.2040dup (p.Val681fs) rs763199261
NM_001807.6(CEL):c.2065G>C (p.Ala689Pro)
NM_001807.6(CEL):c.2073dup (p.Val692fs) rs756449511
NM_001807.6(CEL):c.2080C>T (p.Pro694Ser)
NM_001807.6(CEL):c.2082del (p.Thr695fs)
NM_001807.6(CEL):c.2082dup (p.Thr695fs)
NM_001807.6(CEL):c.209G>T (p.Gly70Val)
NM_001807.6(CEL):c.2128G>A (p.Glu710Lys) rs1281430699
NM_001807.6(CEL):c.2137C>G (p.Pro713Ala)
NM_001807.6(CEL):c.2139_2171del (p.Gly721_Ser731del)
NM_001807.6(CEL):c.2154_2163del (p.Asp719fs)
NM_001807.6(CEL):c.2159C>T (p.Ser720Phe)
NM_001807.6(CEL):c.2161_2226del (p.Gly721_Ser742del)
NM_001807.6(CEL):c.2198_2230del (p.Ala733_Lys743del)
NM_001807.6(CEL):c.240C>A (p.Phe80Leu) rs2119059232
NM_001807.6(CEL):c.262A>G (p.Thr88Ala)
NM_001807.6(CEL):c.265A>G (p.Ile89Val) rs746003254
NM_001807.6(CEL):c.277A>C (p.Ser93Arg) rs2490424151
NM_001807.6(CEL):c.289G>T (p.Asp97Tyr)
NM_001807.6(CEL):c.302T>C (p.Leu101Pro)
NM_001807.6(CEL):c.313A>G (p.Ile105Val)
NM_001807.6(CEL):c.337C>T (p.Gln113Ter) rs1200339761
NM_001807.6(CEL):c.340G>A (p.Val114Ile) rs2490424302
NM_001807.6(CEL):c.353_358delinsGGCCCA (p.Leu118_Val120delinsArgProIle)
NM_001807.6(CEL):c.355C>T (p.Pro119Ser)
NM_001807.6(CEL):c.374A>G (p.Tyr125Cys)
NM_001807.6(CEL):c.383C>T (p.Ala128Val) rs960508990
NM_001807.6(CEL):c.395G>A (p.Gly132Glu)
NM_001807.6(CEL):c.427T>C (p.Tyr143His)
NM_001807.6(CEL):c.438C>A (p.Asp146Glu)
NM_001807.6(CEL):c.442G>A (p.Glu148Lys)
NM_001807.6(CEL):c.451G>A (p.Ala151Thr) rs373668445
NM_001807.6(CEL):c.457C>T (p.Arg153Cys)
NM_001807.6(CEL):c.466_479del (p.Val156fs) rs572853045
NM_001807.6(CEL):c.471C>G (p.Ile157Met) rs571038906
NM_001807.6(CEL):c.481T>C (p.Phe161Leu)
NM_001807.6(CEL):c.485A>G (p.Asn162Ser)
NM_001807.6(CEL):c.490C>T (p.Arg164Cys)
NM_001807.6(CEL):c.497del (p.Gly166fs) rs2490425282
NM_001807.6(CEL):c.500C>T (p.Pro167Leu)
NM_001807.6(CEL):c.537A>G (p.Pro179=)
NM_001807.6(CEL):c.538+5G>A
NM_001807.6(CEL):c.538+5G>C
NM_001807.6(CEL):c.553C>T (p.Arg185Trp)
NM_001807.6(CEL):c.610dup (p.Asp204fs)
NM_001807.6(CEL):c.656G>C (p.Ser219Thr)
NM_001807.6(CEL):c.669+6G>A
NM_001807.6(CEL):c.67-3C>A
NM_001807.6(CEL):c.670-1G>C
NM_001807.6(CEL):c.678C>T (p.Ser226=)
NM_001807.6(CEL):c.718A>G (p.Ser240Gly) rs2490428937
NM_001807.6(CEL):c.721G>A (p.Gly241Ser)
NM_001807.6(CEL):c.724G>A (p.Val242Met)
NM_001807.6(CEL):c.728C>T (p.Ala243Val)
NM_001807.6(CEL):c.741G>T (p.Trp247Cys)
NM_001807.6(CEL):c.758C>T (p.Pro253Leu)
NM_001807.6(CEL):c.769G>C (p.Ala257Pro) rs2490429085
NM_001807.6(CEL):c.779T>A (p.Val260Glu)
NM_001807.6(CEL):c.781G>T (p.Ala261Ser) rs2490429539
NM_001807.6(CEL):c.814G>A (p.Ala272Thr)
NM_001807.6(CEL):c.828G>A (p.Gln276=)
NM_001807.6(CEL):c.847C>G (p.Pro283Ala)
NM_001807.6(CEL):c.850C>G (p.Arg284Gly) rs369868891
NM_001807.6(CEL):c.850C>T (p.Arg284Ter)
NM_001807.6(CEL):c.866C>T (p.Ala289Val)
NM_001807.6(CEL):c.869A>G (p.Tyr290Cys)
NM_001807.6(CEL):c.893A>G (p.Glu298Gly)
NM_001807.6(CEL):c.948C>G (p.Ile316Met)
NM_001807.6(CEL):c.952G>A (p.Ala318Thr)
NM_001807.6(CEL):c.953C>T (p.Ala318Val)
NM_001807.6(CEL):c.955G>A (p.Asp319Asn)
NM_001807.6(CEL):c.957C>A (p.Asp319Glu) rs2490432110
NM_001807.6(CEL):c.959C>T (p.Pro320Leu)
NM_001807.6(CEL):c.964A>C (p.Asn322His) rs1830219581
Single allele

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