List of variants in gene EGLN1 reported as likely benign by Invitae

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 120

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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.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_022051.3(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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