ClinVar Miner

List of variants in gene CEL reported as uncertain significance for Maturity-onset diabetes of the young type 8

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Total variants: 118
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HGVS dbSNP gnomAD frequency
NM_001807.6(CEL):c.2172del (p.Val725fs) rs780419796 0.00115
NM_001807.6(CEL):c.878C>T (p.Pro293Leu) rs201066180 0.00020
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.1412C>T (p.Thr471Met) rs199524286 0.00006
NM_001807.6(CEL):c.203A>T (p.His68Leu) rs768467824 0.00005
NM_001807.6(CEL):c.874G>T (p.Val292Leu) rs868527871 0.00004
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.1402G>A (p.Ala468Thr) rs777913068 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.1624T>C (p.Trp542Arg) rs1441466735 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.526G>A (p.Ala176Thr) rs746372103 0.00001
NM_001807.6(CEL):c.883G>T (p.Ala295Ser) rs765533068 0.00001
NM_001807.6(CEL):c.109A>C (p.Asn37His)
NM_001807.6(CEL):c.110A>G (p.Asn37Ser)
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.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.1398del (p.Phe467fs)
NM_001807.6(CEL):c.1410_1411delinsACTC (p.Thr471fs) rs2490435311
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.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.1700_1738delinsGGGCCC (p.Glu567_Ala580delinsGlyAlaPro)
NM_001807.6(CEL):c.1705_1737del (p.Thr569_Thr579del)
NM_001807.6(CEL):c.1723G>C (p.Gly575Arg)
NM_001807.6(CEL):c.1727A>G (p.Asp576Gly)
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.1801del (p.Ala601fs)
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.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.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.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.353_358delinsGGCCCA (p.Leu118_Val120delinsArgProIle)
NM_001807.6(CEL):c.374A>G (p.Tyr125Cys)
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.457C>T (p.Arg153Cys)
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.779T>A (p.Val260Glu)
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>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.959C>T (p.Pro320Leu)
Single allele

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