ClinVar Miner

List of variants in gene CEL studied for maturity-onset diabetes of the young

Included ClinVar conditions (40):
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Gene type:
ClinVar version:
Total variants: 137
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HGVS dbSNP gnomAD frequency
NM_001807.6(CEL):c.1454T>C (p.Ile485Thr) rs77696629 0.02562
NM_001807.6(CEL):c.353T>G (p.Leu118Arg) rs113056079 0.01720
NM_001807.6(CEL):c.1833G>C (p.Gly611=) rs1211933243 0.00547
NM_001807.6(CEL):c.402C>G (p.Gly134=) rs150358550 0.00392
NM_001807.6(CEL):c.2172del (p.Val725fs) rs780419796 0.00115
NM_001807.6(CEL):c.1716C>G (p.Pro572=) rs200152972 0.00108
NM_001807.6(CEL):c.1689A>G (p.Thr563=) rs199941432 0.00079
NM_001807.6(CEL):c.1692G>T (p.Gly564=) rs200716123 0.00079
NM_001807.6(CEL):c.554G>A (p.Arg185Gln) rs141665160 0.00076
NM_001807.6(CEL):c.1335C>T (p.Pro445=) rs371892814 0.00073
NM_001807.6(CEL):c.1485-8C>T rs185188893 0.00072
NM_001807.6(CEL):c.777+7G>A rs200749469 0.00038
NM_001807.6(CEL):c.878C>T (p.Pro293Leu) rs201066180 0.00020
NM_001807.6(CEL):c.1677T>C (p.Pro559=) rs527908529 0.00017
NM_001807.6(CEL):c.132T>C (p.Gly44=) rs543591885 0.00014
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.670-4G>A rs371303105 0.00006
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.400G>A (p.Gly134Ser) rs377284693 0.00002
NM_001807.6(CEL):c.895+2dup rs1027973097 0.00002
NM_001807.6(CEL):c.217+34C>T rs778382071 0.00001
NM_001807.6(CEL):c.703C>T (p.Arg235Ter) rs778611627 0.00001
NC_000009.11:g.(135939771_135947171)del
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)
NM_001807.6(CEL):c.1412C>T (p.Thr471Met)
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)
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.1624T>C (p.Trp542Arg)
NM_001807.6(CEL):c.1643C>A (p.Ala548Glu)
NM_001807.6(CEL):c.1659C>G (p.Thr553=) rs78256304
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.1677del (p.Val560fs)
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.1776del (p.Val593fs) rs193922638
NM_001807.6(CEL):c.1776dup (p.Val593fs) rs193922638
NM_001807.6(CEL):c.1875del (p.Val626fs)
NM_001807.6(CEL):c.1974del (p.Val659fs) rs1341981506
NM_001807.6(CEL):c.2029G>T (p.Gly677Trp) rs984492184
NM_001807.6(CEL):c.203A>T (p.His68Leu)
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.2123A>T (p.Asp708Val)
NM_001807.6(CEL):c.2137C>G (p.Pro713Ala)
NM_001807.6(CEL):c.2139_2171del (p.Gly721_Ser731del)
NM_001807.6(CEL):c.2139dup (p.Val714fs)
NM_001807.6(CEL):c.2159C>T (p.Ser720Phe)
NM_001807.6(CEL):c.2161_2226del (p.Gly721_Ser742del)
NM_001807.6(CEL):c.2165C>T (p.Ala722Val)
NM_001807.6(CEL):c.2184_2216del (p.Gly729_Thr739del)
NM_001807.6(CEL):c.2184_2216dup (p.Thr739_Asp740insGlyAspSerGluAlaAlaProValProProThr)
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)
NM_001807.6(CEL):c.277A>C (p.Ser93Arg)
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.341-83C>T
NM_001807.6(CEL):c.353_358delinsGGCCCA (p.Leu118_Val120delinsArgProIle)
NM_001807.6(CEL):c.374A>G (p.Tyr125Cys)
NM_001807.6(CEL):c.382G>A (p.Ala128Thr)
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.466_479del (p.Val156fs) rs572853045
NM_001807.6(CEL):c.472G>A (p.Val158Met)
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)
NM_001807.6(CEL):c.500C>T (p.Pro167Leu)
NM_001807.6(CEL):c.526G>A (p.Ala176Thr)
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)
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.73G>A (p.Ala25Thr)
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>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.874G>T (p.Val292Leu)
NM_001807.6(CEL):c.883G>T (p.Ala295Ser)
NM_001807.6(CEL):c.893A>G (p.Glu298Gly)
NM_001807.6(CEL):c.959C>T (p.Pro320Leu)
NM_001807.6(CEL):c.99G>C (p.Val33=) rs199971842
Single allele

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