ClinVar Miner

List of variants in gene EGLN1 reported by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 155
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HGVS dbSNP gnomAD frequency
NM_022051.2(EGLN1):c.-2586T>C rs2153364 0.18403
NM_022051.2(EGLN1):c.-1592T>C rs12406290 0.18375
NM_022051.2(EGLN1):c.-2592T>G rs1361383 0.16943
NM_022051.2(EGLN1):c.-2599T>C rs1361384 0.16701
NM_022051.2(EGLN1):c.-2923C>T rs1339894 0.16688
NM_022051.3(EGLN1):c.380G>C (p.Cys127Ser) rs12097901 0.15191
NM_022051.2(EGLN1):c.-1706T>C rs7544596 0.12544
NM_022051.3(EGLN1):c.*1880A>T rs13239 0.03362
NM_022051.3(EGLN1):c.*989T>C rs7550833 0.03358
NM_022051.2(EGLN1):c.-2448A>C rs114449367 0.02248
NM_022051.2(EGLN1):c.-544C>T rs188879504 0.02224
NM_022051.2(EGLN1):c.-536C>T rs184124593 0.02173
NM_022051.3(EGLN1):c.471G>C (p.Gln157His) rs61750991 0.01830
NM_022051.3(EGLN1):c.*2061C>G rs116262857 0.01601
NM_022051.2(EGLN1):c.-698G>A rs80010432 0.01338
NM_022051.2(EGLN1):c.-619C>G rs114235192 0.01283
NM_022051.3(EGLN1):c.*1919T>C rs41303095 0.01276
NM_022051.3(EGLN1):c.*2235C>G rs191867 0.01199
NM_022051.3(EGLN1):c.*494G>A rs144067360 0.01167
NM_022051.3(EGLN1):c.*1787T>G rs143135847 0.01166
NM_022051.2(EGLN1):c.-420C>G rs533281866 0.00989
NM_022051.2(EGLN1):c.-2735G>A rs12094665 0.00522
NM_022051.3(EGLN1):c.*2096T>C rs141735901 0.00396
NM_022051.3(EGLN1):c.*387G>A rs192117490 0.00302
NM_022051.2(EGLN1):c.-2709C>T rs373140957 0.00292
NM_022051.3(EGLN1):c.*452A>G rs186972462 0.00277
NM_022051.2(EGLN1):c.-2369C>T rs149120358 0.00268
NM_022051.3(EGLN1):c.*1236_*1237insTG rs564384828 0.00264
NM_022051.2(EGLN1):c.-2345G>C rs145066596 0.00239
NM_022051.2(EGLN1):c.-2696G>A rs147783454 0.00238
NM_022051.3(EGLN1):c.287C>T (p.Ala96Val) rs113401862 0.00236
NM_022051.3(EGLN1):c.1113C>T (p.Arg371=) rs143991968 0.00206
NM_022051.3(EGLN1):c.*2598G>A rs77496832 0.00195
NM_022051.3(EGLN1):c.1272C>T (p.Asp424=) rs61734647 0.00188
NM_022051.2(EGLN1):c.-1212A>G rs41310557 0.00183
NM_022051.2(EGLN1):c.-2419G>C rs188721782 0.00173
NM_022051.3(EGLN1):c.*622A>G rs183632912 0.00152
NM_022051.2(EGLN1):c.-1609G>A rs41303113 0.00149
NM_022051.3(EGLN1):c.*2043C>T rs193073371 0.00143
NM_022051.3(EGLN1):c.*21C>G rs199612416 0.00121
NM_022051.2(EGLN1):c.-2203T>C rs184200552 0.00091
NM_022051.2(EGLN1):c.-2456A>G rs541100189 0.00084
NM_022051.3(EGLN1):c.*1199A>G rs185930120 0.00080
NM_022051.3(EGLN1):c.12C>G (p.Asp4Glu) rs186996510 0.00079
NM_022051.3(EGLN1):c.*1288C>T rs578226800 0.00061
NM_022051.2(EGLN1):c.-786G>A rs190966487 0.00038
NM_022051.3(EGLN1):c.*1088C>T rs763620691 0.00035
NM_022051.3(EGLN1):c.*1965A>G rs185322052 0.00035
NM_022051.2(EGLN1):c.-2887A>G rs755076898 0.00034
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.-20T>C rs756211725 0.00028
NM_022051.3(EGLN1):c.*663C>T rs375652885 0.00026
NM_022051.3(EGLN1):c.359C>T (p.Pro120Leu) rs796280222 0.00026
NM_022051.2(EGLN1):c.-470C>T rs886046118 0.00025
NM_022051.3(EGLN1):c.*1185T>C rs775022659 0.00024
NM_022051.3(EGLN1):c.*2044G>A rs886046096 0.00024
NM_022051.3(EGLN1):c.-374C>T rs551144196 0.00024
NM_022051.3(EGLN1):c.*1731C>T rs759117979 0.00022
NM_022051.3(EGLN1):c.924G>A (p.Thr308=) rs201523464 0.00019
NM_022051.3(EGLN1):c.*371A>C rs923016967 0.00018
NM_022051.3(EGLN1):c.558G>C (p.Lys186Asn) rs201365992 0.00018
NM_022051.3(EGLN1):c.*575A>T rs373743992 0.00016
NM_022051.2(EGLN1):c.-437C>T rs886046116 0.00014
NM_022051.2(EGLN1):c.-901T>C rs886046125 0.00014
NM_022051.2(EGLN1):c.-2169C>T rs886046129 0.00012
NM_022051.3(EGLN1):c.-37G>C rs779132675 0.00011
NM_022051.2(EGLN1):c.-1590C>T rs368110035 0.00006
NM_022051.2(EGLN1):c.-461C>A rs886046117 0.00006
NM_022051.2(EGLN1):c.-969G>A rs766034321 0.00006
NM_022051.3(EGLN1):c.*1911C>T rs886046097 0.00006
NM_022051.3(EGLN1):c.*965A>G rs773908732 0.00006
NM_022051.2(EGLN1):c.-1517A>G rs750706558 0.00004
NM_022051.2(EGLN1):c.-1959G>A rs886046128 0.00004
NM_022051.2(EGLN1):c.-2568G>T rs185603039 0.00003
NM_022051.3(EGLN1):c.*1010C>T rs886046100 0.00003
NM_022051.3(EGLN1):c.*1854T>G rs774937283 0.00003
NM_022051.3(EGLN1):c.*421A>G rs886046107 0.00003
NM_022051.3(EGLN1):c.*603C>A rs886046104 0.00003
NM_022051.3(EGLN1):c.*2577G>C rs886046095 0.00002
NM_022051.3(EGLN1):c.*434T>G rs974916553 0.00002
NM_022051.3(EGLN1):c.*841C>T rs1042628099 0.00002
NM_022051.3(EGLN1):c.-111G>A rs886046113 0.00002
NM_022051.3(EGLN1):c.-46C>T rs899734016 0.00002
NM_022051.3(EGLN1):c.522C>T (p.Ser174=) rs767045832 0.00002
NM_022051.2(EGLN1):c.-1159T>C rs1273579470 0.00001
NM_022051.2(EGLN1):c.-1305A>C rs1656707976 0.00001
NM_022051.2(EGLN1):c.-2340A>G rs886046130 0.00001
NM_022051.2(EGLN1):c.-2567C>T rs193048016 0.00001
NM_022051.2(EGLN1):c.-2695A>G rs886046132 0.00001
NM_022051.2(EGLN1):c.-2762C>T rs886046133 0.00001
NM_022051.2(EGLN1):c.-2767G>A rs886046134 0.00001
NM_022051.2(EGLN1):c.-565C>A rs886046120 0.00001
NM_022051.2(EGLN1):c.-694C>T rs886046122 0.00001
NM_022051.2(EGLN1):c.-720C>T rs886046123 0.00001
NM_022051.2(EGLN1):c.-766T>C rs1656688727 0.00001
NM_022051.2(EGLN1):c.-797C>G rs886046124 0.00001
NM_022051.3(EGLN1):c.*1326T>C rs1315144793 0.00001
NM_022051.3(EGLN1):c.*2491C>T rs1333130258 0.00001
NM_022051.3(EGLN1):c.*650A>T rs1489752896 0.00001
NM_022051.3(EGLN1):c.*796C>A rs886046103 0.00001
NM_022051.3(EGLN1):c.*798C>T rs886046102 0.00001
NM_022051.3(EGLN1):c.*944C>T rs886046101 0.00001
NM_022051.3(EGLN1):c.-140C>T rs886046114 0.00001
NM_022051.3(EGLN1):c.477G>A (p.Lys159=) rs766985056 0.00001
NM_022051.2(EGLN1):c.-1519C>A rs1333217413
NM_022051.2(EGLN1):c.-1634_-1633AG[1] rs145140638
NM_022051.2(EGLN1):c.-1662_-1661delAC rs886046126
NM_022051.2(EGLN1):c.-1809A>G rs748537901
NM_022051.2(EGLN1):c.-1832G>A rs886046127
NM_022051.2(EGLN1):c.-1841A>G rs565638198
NM_022051.2(EGLN1):c.-2450T>G rs143021749
NM_022051.2(EGLN1):c.-2621G>C rs886046131
NM_022051.2(EGLN1):c.-2692_-2689delACTC rs577920148
NM_022051.2(EGLN1):c.-2744T>C rs531866773
NM_022051.2(EGLN1):c.-3146dup rs111995599
NM_022051.2(EGLN1):c.-423G>A rs1401812988
NM_022051.2(EGLN1):c.-506C>T rs943301519
NM_022051.2(EGLN1):c.-516A>C rs886046119
NM_022051.2(EGLN1):c.-531A>C rs113172460
NM_022051.2(EGLN1):c.-531A>G rs113172460
NM_022051.2(EGLN1):c.-550C>G rs1440287491
NM_022051.2(EGLN1):c.-593C>G rs1380469993
NM_022051.2(EGLN1):c.-615C>A rs867092704
NM_022051.2(EGLN1):c.-655G>A rs886046121
NM_022051.2(EGLN1):c.-928T>A rs182333595
NM_022051.3(EGLN1):c.*1410ATTTT[1] rs886046099
NM_022051.3(EGLN1):c.*1428_*1429del rs886046098
NM_022051.3(EGLN1):c.*1434_*1436del rs201012894
NM_022051.3(EGLN1):c.*1487C>T rs574739784
NM_022051.3(EGLN1):c.*1802_*1803dup rs541569859
NM_022051.3(EGLN1):c.*1825G>A rs1687590538
NM_022051.3(EGLN1):c.*2023A>G rs1687584190
NM_022051.3(EGLN1):c.*2416_*2419del rs574848765
NM_022051.3(EGLN1):c.*261_*263del rs886046108
NM_022051.3(EGLN1):c.*535T>G rs886046106
NM_022051.3(EGLN1):c.*555_*559del rs886046105
NM_022051.3(EGLN1):c.*648del rs149920332
NM_022051.3(EGLN1):c.*758GTTTT[2] rs576306593
NM_022051.3(EGLN1):c.*934T>G rs1687618996
NM_022051.3(EGLN1):c.*972G>A rs867975663
NM_022051.3(EGLN1):c.-188A>C rs1656652896
NM_022051.3(EGLN1):c.-377G>A rs564650969
NM_022051.3(EGLN1):c.-379A>C rs533584823
NM_022051.3(EGLN1):c.-379A>T rs533584823
NM_022051.3(EGLN1):c.-386C>A rs886046115
NM_022051.3(EGLN1):c.1217-10del rs371155853
NM_022051.3(EGLN1):c.1217-10dup rs371155853
NM_022051.3(EGLN1):c.253C>G (p.Pro85Ala) rs886046111
NM_022051.3(EGLN1):c.413T>C (p.Val138Ala) rs1408448213
NM_022051.3(EGLN1):c.432C>T (p.Pro144=) rs886046110
NM_022051.3(EGLN1):c.53G>A (p.Arg18Gln) rs886046112
NM_022051.3(EGLN1):c.597G>C (p.Val199=) rs563998083
NM_022051.3(EGLN1):c.739T>G (p.Ser247Ala) rs886046109
NM_022051.3(EGLN1):c.975A>T (p.Thr325=) rs374733352

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