ClinVar Miner

List of variants in gene EGLN1 reported as likely benign for immune system disorder

Included ClinVar conditions (908):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 134
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HGVS dbSNP gnomAD frequency
NM_022051.3(EGLN1):c.*494G>A rs144067360 0.01167
NM_022051.3(EGLN1):c.*1787T>G rs143135847 0.01166
NM_022051.3(EGLN1):c.*387G>A rs192117490 0.00302
NM_022051.3(EGLN1):c.*1236_*1237insTG rs564384828 0.00264
NM_022051.3(EGLN1):c.*2043C>T rs193073371 0.00143
NM_022051.3(EGLN1):c.*21C>G rs199612416 0.00121
NM_022051.3(EGLN1):c.12C>G (p.Asp4Glu) rs186996510 0.00079
NM_022051.3(EGLN1):c.470A>G (p.Gln157Arg) rs748272071 0.00041
NM_022051.2(EGLN1):c.-1296T>G rs568496391 0.00030
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.369C>G (p.Ala123=) rs977096708 0.00011
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.1216+16G>A rs1482429599 0.00004
NM_022051.3(EGLN1):c.280A>G (p.Arg94Gly) rs539743848 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.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.510G>A (p.Gly170=) rs753663555 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.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.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.483C>T (p.Asn161=) rs763502578 0.00001
NM_022051.3(EGLN1):c.642C>A (p.Leu214=) rs145743493 0.00001
NM_022051.3(EGLN1):c.892-13A>G rs528412168 0.00001
NM_022051.2(EGLN1):c.-1634_-1633AG[1] rs145140638
NM_022051.2(EGLN1):c.-2689_-2686delCACT rs577920148
NM_022051.3(EGLN1):c.*1434_*1436del rs201012894
NM_022051.3(EGLN1):c.*2416_*2419del rs574848765
NM_022051.3(EGLN1):c.*758GTTTT[2] rs576306593
NM_022051.3(EGLN1):c.1008C>T (p.Ala336=)
NM_022051.3(EGLN1):c.1011+11T>G rs2102898155
NM_022051.3(EGLN1):c.1011+17A>G
NM_022051.3(EGLN1):c.1012-11T>C
NM_022051.3(EGLN1):c.1012-13G>T
NM_022051.3(EGLN1):c.1012-14G>C
NM_022051.3(EGLN1):c.1012-17T>C
NM_022051.3(EGLN1):c.1012-5C>G
NM_022051.3(EGLN1):c.105C>T (p.Arg35=)
NM_022051.3(EGLN1):c.108C>T (p.Cys36=)
NM_022051.3(EGLN1):c.1092G>C (p.Leu364=)
NM_022051.3(EGLN1):c.1119T>A (p.Pro373=) rs756264599
NM_022051.3(EGLN1):c.111C>T (p.Arg37=)
NM_022051.3(EGLN1):c.1131A>G (p.Gln377=)
NM_022051.3(EGLN1):c.1148+15C>T
NM_022051.3(EGLN1):c.1148+7T>G
NM_022051.3(EGLN1):c.1149-13A>C
NM_022051.3(EGLN1):c.1216+18C>T
NM_022051.3(EGLN1):c.1216+20A>G
NM_022051.3(EGLN1):c.1217-7C>T
NM_022051.3(EGLN1):c.1227T>C (p.Gly409=)
NM_022051.3(EGLN1):c.1257T>C (p.Asp419=) rs1348057473
NM_022051.3(EGLN1):c.1260G>A (p.Ser420=)
NM_022051.3(EGLN1):c.1278C>T (p.Phe426=)
NM_022051.3(EGLN1):c.183C>T (p.Ser61=)
NM_022051.3(EGLN1):c.195C>T (p.Leu65=)
NM_022051.3(EGLN1):c.201C>T (p.His67=)
NM_022051.3(EGLN1):c.213A>G (p.Pro71=)
NM_022051.3(EGLN1):c.225C>G (p.Ser75=) rs1261683983
NM_022051.3(EGLN1):c.234G>T (p.Ala78=)
NM_022051.3(EGLN1):c.237G>A (p.Pro79=)
NM_022051.3(EGLN1):c.240G>C (p.Pro80=)
NM_022051.3(EGLN1):c.243T>A (p.Ala81=)
NM_022051.3(EGLN1):c.246A>G (p.Ala82=)
NM_022051.3(EGLN1):c.24C>A (p.Pro8=) rs766080154
NM_022051.3(EGLN1):c.264C>T (p.Ala88=) rs1060504234
NM_022051.3(EGLN1):c.270C>T (p.Ala90=)
NM_022051.3(EGLN1):c.280A>C (p.Arg94=)
NM_022051.3(EGLN1):c.297C>A (p.Arg99=)
NM_022051.3(EGLN1):c.309C>T (p.Ala103=)
NM_022051.3(EGLN1):c.30G>T (p.Gly10=) rs1337787910
NM_022051.3(EGLN1):c.315G>A (p.Gly105=)
NM_022051.3(EGLN1):c.333A>G (p.Lys111=)
NM_022051.3(EGLN1):c.33G>T (p.Pro11=)
NM_022051.3(EGLN1):c.351G>A (p.Pro117=)
NM_022051.3(EGLN1):c.366G>C (p.Ala122=) rs1352596858
NM_022051.3(EGLN1):c.372_392del (p.Ser125_Ala131del) rs1448568741
NM_022051.3(EGLN1):c.387G>C (p.Ala129=) rs2102947714
NM_022051.3(EGLN1):c.408G>A (p.Ser136=) rs2102947668
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.453C>G (p.Ala151=)
NM_022051.3(EGLN1):c.453C>T (p.Ala151=)
NM_022051.3(EGLN1):c.471G>A (p.Gln157=)
NM_022051.3(EGLN1):c.480G>A (p.Ala160=) rs2102947471
NM_022051.3(EGLN1):c.484C>T (p.Leu162=)
NM_022051.3(EGLN1):c.517C>T (p.Leu173=) rs1656589017
NM_022051.3(EGLN1):c.543C>G (p.Pro181=)
NM_022051.3(EGLN1):c.561C>T (p.Pro187=)
NM_022051.3(EGLN1):c.570G>A (p.Ala190=)
NM_022051.3(EGLN1):c.577C>T (p.Leu193=)
NM_022051.3(EGLN1):c.582G>A (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.597G>C (p.Val199=) rs563998083
NM_022051.3(EGLN1):c.612G>A (p.Lys204=)
NM_022051.3(EGLN1):c.618C>A (p.Gly206=)
NM_022051.3(EGLN1):c.63C>T (p.Cys21=)
NM_022051.3(EGLN1):c.687G>A (p.Leu229=)
NM_022051.3(EGLN1):c.6C>T (p.Ala2=) rs2102948442
NM_022051.3(EGLN1):c.718C>T (p.Leu240=)
NM_022051.3(EGLN1):c.756A>G (p.Arg252=)
NM_022051.3(EGLN1):c.768C>T (p.Ile256=)
NM_022051.3(EGLN1):c.771C>G (p.Thr257=)
NM_022051.3(EGLN1):c.771C>T (p.Thr257=)
NM_022051.3(EGLN1):c.892-11_892-6del rs748954220
NM_022051.3(EGLN1):c.892-14_892-12del rs1687895075
NM_022051.3(EGLN1):c.892-15T>C
NM_022051.3(EGLN1):c.892-20C>A
NM_022051.3(EGLN1):c.903T>C (p.Ala301=)
NM_022051.3(EGLN1):c.909T>C (p.Tyr303=) rs2102898250
NM_022051.3(EGLN1):c.912G>A (p.Pro304=)
NM_022051.3(EGLN1):c.954T>C (p.Asn318=)
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.993T>C (p.Asn331=)

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