ClinVar Miner

List of variants in gene EGLN1 studied for Familial erythrocytosis

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Gene type:
ClinVar version:
Total variants: 113
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HGVS dbSNP
NM_022051.2(EGLN1):c.*1010C>T rs886046100
NM_022051.2(EGLN1):c.*1185T>C rs775022659
NM_022051.2(EGLN1):c.*1199A>G rs185930120
NM_022051.2(EGLN1):c.*1236_*1237insTG rs564384828
NM_022051.2(EGLN1):c.*1288C>T rs578226800
NM_022051.2(EGLN1):c.*1415_*1419delATTTT rs886046099
NM_022051.2(EGLN1):c.*1428_*1429del rs886046098
NM_022051.2(EGLN1):c.*1434_*1436del rs201012894
NM_022051.2(EGLN1):c.*1487C>T rs574739784
NM_022051.2(EGLN1):c.*1731C>T rs759117979
NM_022051.2(EGLN1):c.*1787T>G rs143135847
NM_022051.2(EGLN1):c.*1802_*1803dup rs541569859
NM_022051.2(EGLN1):c.*1880A>T rs13239
NM_022051.2(EGLN1):c.*1911C>T rs886046097
NM_022051.2(EGLN1):c.*1919T>C rs41303095
NM_022051.2(EGLN1):c.*1965A>G rs185322052
NM_022051.2(EGLN1):c.*2043C>T rs193073371
NM_022051.2(EGLN1):c.*2044G>A rs886046096
NM_022051.2(EGLN1):c.*2061C>G rs116262857
NM_022051.2(EGLN1):c.*2096T>C rs141735901
NM_022051.2(EGLN1):c.*21C>G rs199612416
NM_022051.2(EGLN1):c.*2235C>G rs191867
NM_022051.2(EGLN1):c.*2416_*2419del rs574848765
NM_022051.2(EGLN1):c.*2577G>C rs886046095
NM_022051.2(EGLN1):c.*2598G>A rs77496832
NM_022051.2(EGLN1):c.*261_*263del rs886046108
NM_022051.2(EGLN1):c.*421A>G rs886046107
NM_022051.2(EGLN1):c.*452A>G rs186972462
NM_022051.2(EGLN1):c.*494G>A rs144067360
NM_022051.2(EGLN1):c.*535T>G rs886046106
NM_022051.2(EGLN1):c.*555_*559del rs886046105
NM_022051.2(EGLN1):c.*603C>A rs886046104
NM_022051.2(EGLN1):c.*622A>G rs183632912
NM_022051.2(EGLN1):c.*648del rs149920332
NM_022051.2(EGLN1):c.*663C>T rs375652885
NM_022051.2(EGLN1):c.*768_*772delGTTTT rs576306593
NM_022051.2(EGLN1):c.*796C>A rs886046103
NM_022051.2(EGLN1):c.*798C>T rs886046102
NM_022051.2(EGLN1):c.*944C>T rs886046101
NM_022051.2(EGLN1):c.*965A>G rs773908732
NM_022051.2(EGLN1):c.*989T>C rs7550833
NM_022051.2(EGLN1):c.-111G>A rs886046113
NM_022051.2(EGLN1):c.-1212A>G rs41310557
NM_022051.2(EGLN1):c.-1296T>G rs568496391
NM_022051.2(EGLN1):c.-140C>T rs886046114
NM_022051.2(EGLN1):c.-1517A>G rs750706558
NM_022051.2(EGLN1):c.-1592T>C rs12406290
NM_022051.2(EGLN1):c.-1609G>A rs41303113
NM_022051.2(EGLN1):c.-1632_-1631delAG rs145140638
NM_022051.2(EGLN1):c.-1661_-1660del rs886046126
NM_022051.2(EGLN1):c.-1706T>C rs7544596
NM_022051.2(EGLN1):c.-1809A>G rs748537901
NM_022051.2(EGLN1):c.-1832G>A rs886046127
NM_022051.2(EGLN1):c.-1959G>A rs886046128
NM_022051.2(EGLN1):c.-20T>C rs756211725
NM_022051.2(EGLN1):c.-2169C>T rs886046129
NM_022051.2(EGLN1):c.-2203T>C rs184200552
NM_022051.2(EGLN1):c.-2340A>G rs886046130
NM_022051.2(EGLN1):c.-2369C>T rs149120358
NM_022051.2(EGLN1):c.-2419G>C rs188721782
NM_022051.2(EGLN1):c.-2448A>C rs114449367
NM_022051.2(EGLN1):c.-2456A>G rs541100189
NM_022051.2(EGLN1):c.-2567C>T rs193048016
NM_022051.2(EGLN1):c.-2568G>T rs185603039
NM_022051.2(EGLN1):c.-2586T>C rs2153364
NM_022051.2(EGLN1):c.-2592T>G rs1361383
NM_022051.2(EGLN1):c.-2599T>C rs1361384
NM_022051.2(EGLN1):c.-2621G>C rs886046131
NM_022051.2(EGLN1):c.-2689_-2686del rs577920148
NM_022051.2(EGLN1):c.-2695A>G rs886046132
NM_022051.2(EGLN1):c.-2735G>A rs12094665
NM_022051.2(EGLN1):c.-2744T>C rs531866773
NM_022051.2(EGLN1):c.-2762C>T rs886046133
NM_022051.2(EGLN1):c.-2767G>A rs886046134
NM_022051.2(EGLN1):c.-2923C>T rs1339894
NM_022051.2(EGLN1):c.-3142dup rs111995599
NM_022051.2(EGLN1):c.-374C>T rs551144196
NM_022051.2(EGLN1):c.-379A>T rs533584823
NM_022051.2(EGLN1):c.-386C>A rs886046115
NM_022051.2(EGLN1):c.-420C>G rs533281866
NM_022051.2(EGLN1):c.-437C>T rs886046116
NM_022051.2(EGLN1):c.-461C>A rs886046117
NM_022051.2(EGLN1):c.-470C>T rs886046118
NM_022051.2(EGLN1):c.-516A>C rs886046119
NM_022051.2(EGLN1):c.-531A>G rs113172460
NM_022051.2(EGLN1):c.-536C>T rs184124593
NM_022051.2(EGLN1):c.-565C>A rs886046120
NM_022051.2(EGLN1):c.-619C>G rs114235192
NM_022051.2(EGLN1):c.-655G>A rs886046121
NM_022051.2(EGLN1):c.-694C>T rs886046122
NM_022051.2(EGLN1):c.-698G>A rs80010432
NM_022051.2(EGLN1):c.-720C>T rs886046123
NM_022051.2(EGLN1):c.-786G>A rs190966487
NM_022051.2(EGLN1):c.-797C>G rs886046124
NM_022051.2(EGLN1):c.-901T>C rs886046125
NM_022051.2(EGLN1):c.-969G>A rs766034321
NM_022051.2(EGLN1):c.1113C>T (p.Arg371=) rs143991968
NM_022051.2(EGLN1):c.120C>T (p.Phe40=) rs555121182
NM_022051.2(EGLN1):c.1217-10del rs371155853
NM_022051.2(EGLN1):c.1217-23dup rs371155853
NM_022051.2(EGLN1):c.1272C>T (p.Asp424=) rs61734647
NM_022051.2(EGLN1):c.12C>G (p.Asp4Glu) rs186996510
NM_022051.2(EGLN1):c.253C>G (p.Pro85Ala) rs886046111
NM_022051.2(EGLN1):c.359C>T (p.Pro120Leu) rs796280222
NM_022051.2(EGLN1):c.380G>C (p.Cys127Ser) rs12097901
NM_022051.2(EGLN1):c.432C>T (p.Pro144=) rs886046110
NM_022051.2(EGLN1):c.471G>C (p.Gln157His) rs61750991
NM_022051.2(EGLN1):c.522C>T (p.Ser174=) rs767045832
NM_022051.2(EGLN1):c.53G>A (p.Arg18Gln) rs886046112
NM_022051.2(EGLN1):c.739T>G (p.Ser247Ala) rs886046109
NM_022051.2(EGLN1):c.832G>A (p.Asp278Asn) rs371536347
NM_022051.2(EGLN1):c.924G>A (p.Thr308=) rs201523464
NM_022051.2(EGLN1):c.975A>T (p.Thr325=) rs374733352

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