ClinVar Miner

List of variants in gene EGLN1 reported as likely benign by Ambry Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 284
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HGVS dbSNP gnomAD frequency
NM_022051.3(EGLN1):c.470A>G (p.Gln157Arg) rs748272071 0.00041
NM_022051.3(EGLN1):c.120C>T (p.Phe40=) rs555121182 0.00029
NM_022051.3(EGLN1):c.924G>A (p.Thr308=) rs201523464 0.00019
NM_022051.3(EGLN1):c.354C>T (p.Ala118=) rs1370030808 0.00016
NM_022051.3(EGLN1):c.369C>G (p.Ala123=) rs977096708 0.00011
NM_022051.3(EGLN1):c.419C>T (p.Ala140Val) rs768557500 0.00009
NM_022051.3(EGLN1):c.489C>T (p.Tyr163=) rs773919305 0.00006
NM_022051.3(EGLN1):c.939T>C (p.His313=) rs777082260 0.00006
NM_022051.3(EGLN1):c.168C>T (p.Leu56=) rs750205790 0.00005
NM_022051.3(EGLN1):c.575A>G (p.Lys192Arg) rs75538505 0.00005
NM_022051.3(EGLN1):c.1244A>G (p.Asn415Ser) rs748926816 0.00004
NM_022051.3(EGLN1):c.378G>A (p.Pro126=) rs940090389 0.00004
NM_022051.3(EGLN1):c.597G>A (p.Val199=) rs563998083 0.00004
NM_022051.3(EGLN1):c.67C>T (p.Leu23=) rs768214321 0.00003
NM_022051.3(EGLN1):c.763A>G (p.Lys255Glu) rs767916069 0.00003
NM_022051.3(EGLN1):c.1203A>G (p.Val401=) rs1388172183 0.00002
NM_022051.3(EGLN1):c.24C>T (p.Pro8=) rs766080154 0.00002
NM_022051.3(EGLN1):c.27C>T (p.Gly9=) rs575002938 0.00002
NM_022051.3(EGLN1):c.321G>A (p.Ala107=) rs938944314 0.00002
NM_022051.3(EGLN1):c.405C>T (p.Gly135=) rs781566823 0.00002
NM_022051.3(EGLN1):c.510G>A (p.Gly170=) rs753663555 0.00002
NM_022051.3(EGLN1):c.515C>T (p.Ala172Val) rs777466821 0.00002
NM_022051.3(EGLN1):c.522C>T (p.Ser174=) rs767045832 0.00002
NM_022051.3(EGLN1):c.588G>A (p.Glu196=) rs766038717 0.00002
NM_022051.3(EGLN1):c.630G>A (p.Val210=) rs767760072 0.00002
NM_022051.3(EGLN1):c.672C>T (p.Asp224=) rs1656579647 0.00002
NM_022051.3(EGLN1):c.87C>T (p.Asn29=) rs771144835 0.00002
NM_022051.3(EGLN1):c.917A>G (p.Asn306Ser) rs560996946 0.00002
NM_022051.3(EGLN1):c.1065C>T (p.Asp355=) rs746279366 0.00001
NM_022051.3(EGLN1):c.1209T>C (p.Tyr403=) rs778151367 0.00001
NM_022051.3(EGLN1):c.1263C>T (p.Val421=) rs756924512 0.00001
NM_022051.3(EGLN1):c.1264G>A (p.Gly422Ser) rs753505082 0.00001
NM_022051.3(EGLN1):c.195C>A (p.Leu65=) rs1481560261 0.00001
NM_022051.3(EGLN1):c.225C>T (p.Ser75=) rs1261683983 0.00001
NM_022051.3(EGLN1):c.252G>T (p.Pro84=) rs1060504235 0.00001
NM_022051.3(EGLN1):c.372G>T (p.Ala124=) rs1313369998 0.00001
NM_022051.3(EGLN1):c.459A>G (p.Ser153=) rs1228828348 0.00001
NM_022051.3(EGLN1):c.477G>A (p.Lys159=) rs766985056 0.00001
NM_022051.3(EGLN1):c.483C>T (p.Asn161=) rs763502578 0.00001
NM_022051.3(EGLN1):c.642C>A (p.Leu214=) rs145743493 0.00001
NM_022051.2(EGLN1):c.-1_1ins6
NM_022051.3(EGLN1):c.-18GCC[4]
NM_022051.3(EGLN1):c.-19_-17CGC[7]
NM_022051.3(EGLN1):c.1008C>T (p.Ala336=)
NM_022051.3(EGLN1):c.1014A>G (p.Val338=)
NM_022051.3(EGLN1):c.1020A>T (p.Gly340=)
NM_022051.3(EGLN1):c.102C>T (p.Ser34=)
NM_022051.3(EGLN1):c.1038T>C (p.Phe346=)
NM_022051.3(EGLN1):c.1053C>T (p.Ala351=)
NM_022051.3(EGLN1):c.1055A>G (p.Gln352Arg)
NM_022051.3(EGLN1):c.105C>T (p.Arg35=)
NM_022051.3(EGLN1):c.1068T>C (p.Ile356=)
NM_022051.3(EGLN1):c.1074C>G (p.Pro358=)
NM_022051.3(EGLN1):c.1083T>C (p.Asp361=)
NM_022051.3(EGLN1):c.108C>T (p.Cys36=)
NM_022051.3(EGLN1):c.1092G>C (p.Leu364=)
NM_022051.3(EGLN1):c.1104T>C (p.Ser368=)
NM_022051.3(EGLN1):c.1122T>C (p.His374=)
NM_022051.3(EGLN1):c.1125A>G (p.Glu375=)
NM_022051.3(EGLN1):c.1131A>G (p.Gln377=)
NM_022051.3(EGLN1):c.1137A>G (p.Ala379=)
NM_022051.3(EGLN1):c.1140T>C (p.Tyr380=)
NM_022051.3(EGLN1):c.1143T>A (p.Ala381=)
NM_022051.3(EGLN1):c.114C>T (p.Ser38=)
NM_022051.3(EGLN1):c.1152C>T (p.Tyr384=)
NM_022051.3(EGLN1):c.1155A>G (p.Ala385=)
NM_022051.3(EGLN1):c.1161T>G (p.Thr387=)
NM_022051.3(EGLN1):c.1179A>G (p.Ala393=)
NM_022051.3(EGLN1):c.1179A>T (p.Ala393=)
NM_022051.3(EGLN1):c.117C>T (p.Ser39=)
NM_022051.3(EGLN1):c.1186A>C (p.Arg396=)
NM_022051.3(EGLN1):c.1194A>C (p.Arg398=)
NM_022051.3(EGLN1):c.1194A>G (p.Arg398=)
NM_022051.3(EGLN1):c.1206A>G (p.Lys402=)
NM_022051.3(EGLN1):c.1221A>G (p.Glu407=)
NM_022051.3(EGLN1):c.1227T>C (p.Gly409=)
NM_022051.3(EGLN1):c.1230G>C (p.Val410=)
NM_022051.3(EGLN1):c.1257T>A (p.Asp419Glu)
NM_022051.3(EGLN1):c.1257T>C (p.Asp419=) rs1348057473
NM_022051.3(EGLN1):c.1260G>A (p.Ser420=)
NM_022051.3(EGLN1):c.1260G>T (p.Ser420=)
NM_022051.3(EGLN1):c.1263C>G (p.Val421=)
NM_022051.3(EGLN1):c.1265G>T (p.Gly422Val)
NM_022051.3(EGLN1):c.129C>T (p.Cys43=)
NM_022051.3(EGLN1):c.12C>T (p.Asp4=)
NM_022051.3(EGLN1):c.132G>A (p.Lys44=)
NM_022051.3(EGLN1):c.135G>A (p.Glu45=)
NM_022051.3(EGLN1):c.138C>T (p.His46=)
NM_022051.3(EGLN1):c.141G>A (p.Gln47=)
NM_022051.3(EGLN1):c.144T>C (p.Arg48=)
NM_022051.3(EGLN1):c.147G>A (p.Gln49=)
NM_022051.3(EGLN1):c.150C>T (p.Asp50=)
NM_022051.3(EGLN1):c.156G>A (p.Lys52=)
NM_022051.3(EGLN1):c.15C>T (p.Ser5=)
NM_022051.3(EGLN1):c.168C>G (p.Leu56=)
NM_022051.3(EGLN1):c.171G>A (p.Val57=)
NM_022051.3(EGLN1):c.177G>A (p.Gln59=)
NM_022051.3(EGLN1):c.180C>T (p.Gly60=)
NM_022051.3(EGLN1):c.183C>T (p.Ser61=)
NM_022051.3(EGLN1):c.186G>A (p.Glu62=)
NM_022051.3(EGLN1):c.18C>A (p.Gly6=)
NM_022051.3(EGLN1):c.18C>G (p.Gly6=)
NM_022051.3(EGLN1):c.195C>T (p.Leu65=)
NM_022051.3(EGLN1):c.201C>T (p.His67=)
NM_022051.3(EGLN1):c.204A>G (p.Gly68=)
NM_022051.3(EGLN1):c.204A>T (p.Gly68=) rs760247413
NM_022051.3(EGLN1):c.213A>G (p.Pro71=)
NM_022051.3(EGLN1):c.21G>A (p.Gly7=)
NM_022051.3(EGLN1):c.225C>G (p.Ser75=) rs1261683983
NM_022051.3(EGLN1):c.231C>A (p.Pro77=)
NM_022051.3(EGLN1):c.231C>G (p.Pro77=)
NM_022051.3(EGLN1):c.234G>A (p.Ala78=)
NM_022051.3(EGLN1):c.234G>T (p.Ala78=)
NM_022051.3(EGLN1):c.237G>A (p.Pro79=)
NM_022051.3(EGLN1):c.240G>A (p.Pro80=)
NM_022051.3(EGLN1):c.240G>C (p.Pro80=)
NM_022051.3(EGLN1):c.246A>G (p.Ala82=)
NM_022051.3(EGLN1):c.24C>A (p.Pro8=) rs766080154
NM_022051.3(EGLN1):c.24C>G (p.Pro8=)
NM_022051.3(EGLN1):c.255G>T (p.Pro85=)
NM_022051.3(EGLN1):c.258C>G (p.Pro86=)
NM_022051.3(EGLN1):c.264C>T (p.Ala88=) rs1060504234
NM_022051.3(EGLN1):c.267G>A (p.Gly89=)
NM_022051.3(EGLN1):c.280A>C (p.Arg94=)
NM_022051.3(EGLN1):c.288A>G (p.Ala96=)
NM_022051.3(EGLN1):c.294G>C (p.Ala98=)
NM_022051.3(EGLN1):c.297C>A (p.Arg99=)
NM_022051.3(EGLN1):c.303C>T (p.Asp101=)
NM_022051.3(EGLN1):c.309C>T (p.Ala103=)
NM_022051.3(EGLN1):c.30G>A (p.Gly10=)
NM_022051.3(EGLN1):c.30G>C (p.Gly10=)
NM_022051.3(EGLN1):c.312C>T (p.Ser104=)
NM_022051.3(EGLN1):c.315G>A (p.Gly105=)
NM_022051.3(EGLN1):c.315G>C (p.Gly105=)
NM_022051.3(EGLN1):c.318C>T (p.Asp106=)
NM_022051.3(EGLN1):c.324C>T (p.Ala108=)
NM_022051.3(EGLN1):c.327G>A (p.Lys109=)
NM_022051.3(EGLN1):c.330A>G (p.Gly110=)
NM_022051.3(EGLN1):c.33G>A (p.Pro11=)
NM_022051.3(EGLN1):c.345G>A (p.Lys115=)
NM_022051.3(EGLN1):c.348C>A (p.Pro116=)
NM_022051.3(EGLN1):c.348C>G (p.Pro116=)
NM_022051.3(EGLN1):c.349C>T (p.Pro117Ser)
NM_022051.3(EGLN1):c.351G>A (p.Pro117=)
NM_022051.3(EGLN1):c.354C>A (p.Ala118=)
NM_022051.3(EGLN1):c.360A>T (p.Pro120=)
NM_022051.3(EGLN1):c.363G>T (p.Ala121=)
NM_022051.3(EGLN1):c.366G>A (p.Ala122=)
NM_022051.3(EGLN1):c.366G>C (p.Ala122=) rs1352596858
NM_022051.3(EGLN1):c.36C>T (p.Ser12=)
NM_022051.3(EGLN1):c.375G>A (p.Ser125=)
NM_022051.3(EGLN1):c.375G>T (p.Ser125=)
NM_022051.3(EGLN1):c.378G>C (p.Pro126=)
NM_022051.3(EGLN1):c.387G>C (p.Ala129=) rs2102947714
NM_022051.3(EGLN1):c.390C>A (p.Ala130=)
NM_022051.3(EGLN1):c.393C>T (p.Ala131=)
NM_022051.3(EGLN1):c.396C>T (p.Gly132=)
NM_022051.3(EGLN1):c.399C>T (p.Gly133=)
NM_022051.3(EGLN1):c.39G>A (p.Pro13=)
NM_022051.3(EGLN1):c.39G>T (p.Pro13=)
NM_022051.3(EGLN1):c.405C>A (p.Gly135=)
NM_022051.3(EGLN1):c.411G>A (p.Ala137=)
NM_022051.3(EGLN1):c.411G>C (p.Ala137=)
NM_022051.3(EGLN1):c.411G>T (p.Ala137=)
NM_022051.3(EGLN1):c.420C>A (p.Ala140=)
NM_022051.3(EGLN1):c.420C>G (p.Ala140=)
NM_022051.3(EGLN1):c.426C>A (p.Ala142=)
NM_022051.3(EGLN1):c.426C>T (p.Ala142=)
NM_022051.3(EGLN1):c.429G>A (p.Glu143=)
NM_022051.3(EGLN1):c.432C>G (p.Pro144=)
NM_022051.3(EGLN1):c.432C>T (p.Pro144=) rs886046110
NM_022051.3(EGLN1):c.438G>A (p.Lys146=)
NM_022051.3(EGLN1):c.447G>A (p.Pro149=)
NM_022051.3(EGLN1):c.449C>T (p.Pro150Leu) rs758337994
NM_022051.3(EGLN1):c.450G>C (p.Pro150=)
NM_022051.3(EGLN1):c.453C>G (p.Ala151=)
NM_022051.3(EGLN1):c.453C>T (p.Ala151=)
NM_022051.3(EGLN1):c.456C>T (p.Arg152=)
NM_022051.3(EGLN1):c.462G>A (p.Ser154=)
NM_022051.3(EGLN1):c.471G>A (p.Gln157=)
NM_022051.3(EGLN1):c.492C>A (p.Pro164=)
NM_022051.3(EGLN1):c.492C>G (p.Pro164=)
NM_022051.3(EGLN1):c.492C>T (p.Pro164=)
NM_022051.3(EGLN1):c.495A>C (p.Pro165=)
NM_022051.3(EGLN1):c.498C>T (p.Ser166=)
NM_022051.3(EGLN1):c.507C>T (p.Pro169=)
NM_022051.3(EGLN1):c.513T>C (p.Asp171=)
NM_022051.3(EGLN1):c.515C>G (p.Ala172Gly)
NM_022051.3(EGLN1):c.516G>T (p.Ala172=)
NM_022051.3(EGLN1):c.517C>T (p.Leu173=) rs1656589017
NM_022051.3(EGLN1):c.525C>T (p.Pro175=)
NM_022051.3(EGLN1):c.528C>T (p.Gly176=)
NM_022051.3(EGLN1):c.52C>A (p.Arg18=)
NM_022051.3(EGLN1):c.535C>T (p.Leu179=)
NM_022051.3(EGLN1):c.538C>A (p.Arg180=)
NM_022051.3(EGLN1):c.540G>A (p.Arg180=)
NM_022051.3(EGLN1):c.540G>C (p.Arg180=)
NM_022051.3(EGLN1):c.540G>T (p.Arg180=)
NM_022051.3(EGLN1):c.546C>T (p.Asn182=)
NM_022051.3(EGLN1):c.549G>A (p.Gly183=)
NM_022051.3(EGLN1):c.561C>G (p.Pro187=)
NM_022051.3(EGLN1):c.561C>T (p.Pro187=)
NM_022051.3(EGLN1):c.562C>T (p.Leu188=)
NM_022051.3(EGLN1):c.567G>A (p.Pro189=)
NM_022051.3(EGLN1):c.568G>T (p.Ala190Ser)
NM_022051.3(EGLN1):c.569C>T (p.Ala190Val)
NM_022051.3(EGLN1):c.570G>A (p.Ala190=)
NM_022051.3(EGLN1):c.571C>T (p.Leu191=)
NM_022051.3(EGLN1):c.573G>T (p.Leu191=)
NM_022051.3(EGLN1):c.577C>T (p.Leu193=)
NM_022051.3(EGLN1):c.57G>A (p.Gln19=)
NM_022051.3(EGLN1):c.582G>C (p.Ala194=)
NM_022051.3(EGLN1):c.582G>T (p.Ala194=)
NM_022051.3(EGLN1):c.585C>G (p.Leu195=) rs1467879744
NM_022051.3(EGLN1):c.585C>T (p.Leu195=) rs1467879744
NM_022051.3(EGLN1):c.594C>T (p.Ile198=)
NM_022051.3(EGLN1):c.597G>C (p.Val199=) rs563998083
NM_022051.3(EGLN1):c.600G>C (p.Pro200=)
NM_022051.3(EGLN1):c.600G>T (p.Pro200=)
NM_022051.3(EGLN1):c.603C>T (p.Cys201=)
NM_022051.3(EGLN1):c.609C>T (p.Asn203=)
NM_022051.3(EGLN1):c.612G>A (p.Lys204=)
NM_022051.3(EGLN1):c.615C>T (p.His205=)
NM_022051.3(EGLN1):c.618C>A (p.Gly206=)
NM_022051.3(EGLN1):c.624T>C (p.Cys208=)
NM_022051.3(EGLN1):c.627G>A (p.Val209=)
NM_022051.3(EGLN1):c.627G>C (p.Val209=)
NM_022051.3(EGLN1):c.627G>T (p.Val209=)
NM_022051.3(EGLN1):c.633C>T (p.Asp211=)
NM_022051.3(EGLN1):c.636C>T (p.Asp212=)
NM_022051.3(EGLN1):c.63C>T (p.Cys21=)
NM_022051.3(EGLN1):c.642C>G (p.Leu214=)
NM_022051.3(EGLN1):c.645C>T (p.Gly215=)
NM_022051.3(EGLN1):c.654C>A (p.Thr218=)
NM_022051.3(EGLN1):c.654C>G (p.Thr218=)
NM_022051.3(EGLN1):c.654C>T (p.Thr218=)
NM_022051.3(EGLN1):c.657A>G (p.Gly219=)
NM_022051.3(EGLN1):c.666C>T (p.Ile222=)
NM_022051.3(EGLN1):c.678G>A (p.Val226=)
NM_022051.3(EGLN1):c.681C>T (p.Arg227=)
NM_022051.3(EGLN1):c.685C>T (p.Leu229=)
NM_022051.3(EGLN1):c.687G>A (p.Leu229=)
NM_022051.3(EGLN1):c.690C>T (p.His230=)
NM_022051.3(EGLN1):c.693C>T (p.Asp231=)
NM_022051.3(EGLN1):c.696C>T (p.Thr232=)
NM_022051.3(EGLN1):c.699G>A (p.Gly233=)
NM_022051.3(EGLN1):c.699G>C (p.Gly233=)
NM_022051.3(EGLN1):c.69G>C (p.Leu23=)
NM_022051.3(EGLN1):c.6C>G (p.Ala2=)
NM_022051.3(EGLN1):c.711C>T (p.Asp237=)
NM_022051.3(EGLN1):c.714G>A (p.Gly238=)
NM_022051.3(EGLN1):c.718C>T (p.Leu240=)
NM_022051.3(EGLN1):c.723C>G (p.Val241=)
NM_022051.3(EGLN1):c.723C>T (p.Val241=)
NM_022051.3(EGLN1):c.729G>A (p.Gln243=)
NM_022051.3(EGLN1):c.735T>C (p.Ser245=)
NM_022051.3(EGLN1):c.738C>T (p.Asp246=)
NM_022051.3(EGLN1):c.741G>C (p.Ser247=)
NM_022051.3(EGLN1):c.744C>A (p.Ser248=)
NM_022051.3(EGLN1):c.744C>T (p.Ser248=)
NM_022051.3(EGLN1):c.750C>T (p.Asp250=)
NM_022051.3(EGLN1):c.756A>C (p.Arg252=)
NM_022051.3(EGLN1):c.75G>A (p.Gly25=)
NM_022051.3(EGLN1):c.762T>C (p.Asp254=)
NM_022051.3(EGLN1):c.765G>A (p.Lys255=)
NM_022051.3(EGLN1):c.771C>G (p.Thr257=)
NM_022051.3(EGLN1):c.771C>T (p.Thr257=)
NM_022051.3(EGLN1):c.78G>A (p.Lys26=)
NM_022051.3(EGLN1):c.84G>A (p.Glu28=)
NM_022051.3(EGLN1):c.90G>A (p.Leu30=)
NM_022051.3(EGLN1):c.918T>C (p.Asn306=)
NM_022051.3(EGLN1):c.927T>A (p.Gly309=)
NM_022051.3(EGLN1):c.93G>A (p.Leu31=)
NM_022051.3(EGLN1):c.942T>C (p.Val314=)
NM_022051.3(EGLN1):c.954T>C (p.Asn318=)
NM_022051.3(EGLN1):c.960T>C (p.Asp320=)
NM_022051.3(EGLN1):c.96C>T (p.Arg32=)
NM_022051.3(EGLN1):c.972G>A (p.Val324=)
NM_022051.3(EGLN1):c.975A>G (p.Thr325=) rs374733352
NM_022051.3(EGLN1):c.975A>T (p.Thr325=) rs374733352
NM_022051.3(EGLN1):c.990T>A (p.Leu330=)
NM_022051.3(EGLN1):c.993T>C (p.Asn331=)
NM_022051.3(EGLN1):c.99C>T (p.Cys33=)
NM_022051.3(EGLN1):c.9T>C (p.Asn3=)

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