ClinVar Miner

List of variants studied for Familial erythrocytosis

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ClinVar version:
Total variants: 254
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HGVS dbSNP
NM_000121.3(EPOR):c.-133T>G rs147119630
NM_000121.4(EPOR):c.*186_*187dup rs528356712
NM_000121.4(EPOR):c.*35G>A rs200997864
NM_000121.4(EPOR):c.*425C>T rs140441486
NM_000121.4(EPOR):c.*504G>A rs150535617
NM_000121.4(EPOR):c.*577A>G rs141524122
NM_000121.4(EPOR):c.*619C>T rs886054191
NM_000121.4(EPOR):c.*670G>A rs771124995
NM_000121.4(EPOR):c.*684C>A rs542954029
NM_000121.4(EPOR):c.-68G>A rs886054194
NM_000121.4(EPOR):c.-8G>T rs886054193
NM_000121.4(EPOR):c.1022C>T (p.Thr341Met) rs754708788
NM_000121.4(EPOR):c.1041G>A (p.Pro347=) rs138884102
NM_000121.4(EPOR):c.1138C>G (p.Pro380Ala) rs35423344
NM_000121.4(EPOR):c.1139C>T (p.Pro380Leu) rs199645071
NM_000121.4(EPOR):c.115+7A>G rs192525298
NM_000121.4(EPOR):c.1310G>A (p.Arg437His) rs62638744
NM_000121.4(EPOR):c.137G>A (p.Gly46Glu) rs45516306
NM_000121.4(EPOR):c.1398T>C (p.Thr466=) rs138190746
NM_000121.4(EPOR):c.1427C>T (p.Ala476Val) rs146937816
NM_000121.4(EPOR):c.1428C>T (p.Ala476=) rs141096553
NM_000121.4(EPOR):c.1444G>A (p.Asp482Asn) rs775164142
NM_000121.4(EPOR):c.1460A>G (p.Asn487Ser) rs62638745
NM_000121.4(EPOR):c.1462C>T (p.Pro488Ser) rs142094773
NM_000121.4(EPOR):c.168G>T (p.Arg56=) rs35977803
NM_000121.4(EPOR):c.215T>C (p.Val72Ala) rs780617943
NM_000121.4(EPOR):c.24C>T (p.Leu8=) rs577368929
NM_000121.4(EPOR):c.438C>T (p.Asp146=) rs114645751
NM_000121.4(EPOR):c.558C>T (p.Ala186=) rs377322757
NM_000121.4(EPOR):c.568G>T (p.Ala190Ser) rs139849355
NM_000121.4(EPOR):c.596T>C (p.Leu199Pro) rs750657898
NM_000121.4(EPOR):c.657C>A (p.Ala219=) rs61729384
NM_000121.4(EPOR):c.864C>T (p.Ser288=) rs886054192
NM_000121.4(EPOR):c.980C>T (p.Pro327Leu) rs776698147
NM_001430.5(EPAS1):c.*1040_*1041insG rs111426869
NM_001430.5(EPAS1):c.*111A>G rs62137032
NM_001430.5(EPAS1):c.*1134T>C rs886056100
NM_001430.5(EPAS1):c.*117T>A rs886056089
NM_001430.5(EPAS1):c.*1207A>C rs116816939
NM_001430.5(EPAS1):c.*1225C>T rs553535570
NM_001430.5(EPAS1):c.*1239A>G rs11539645
NM_001430.5(EPAS1):c.*1247dup rs546029479
NM_001430.5(EPAS1):c.*1272C>T rs115678594
NM_001430.5(EPAS1):c.*1275C>A rs554001260
NM_001430.5(EPAS1):c.*1276G>A rs1868091
NM_001430.5(EPAS1):c.*1278C>T rs545916994
NM_001430.5(EPAS1):c.*1290C>T rs780890954
NM_001430.5(EPAS1):c.*1373C>A rs112031193
NM_001430.5(EPAS1):c.*1614C>T rs112500820
NM_001430.5(EPAS1):c.*1620G>C rs886056102
NM_001430.5(EPAS1):c.*1724G>A rs114927662
NM_001430.5(EPAS1):c.*1746G>A rs540911183
NM_001430.5(EPAS1):c.*1790G>A rs532892029
NM_001430.5(EPAS1):c.*1827C>T rs886056103
NM_001430.5(EPAS1):c.*1878T>C rs570138573
NM_001430.5(EPAS1):c.*1916C>A rs886056104
NM_001430.5(EPAS1):c.*208T>C rs139675215
NM_001430.5(EPAS1):c.*349T>C rs72797432
NM_001430.5(EPAS1):c.*354G>C rs116385387
NM_001430.5(EPAS1):c.*486C>T rs886056090
NM_001430.5(EPAS1):c.*527G>T rs886056091
NM_001430.5(EPAS1):c.*539_*540del rs75932330
NM_001430.5(EPAS1):c.*540del rs75932330
NM_001430.5(EPAS1):c.*54C>T rs142847751
NM_001430.5(EPAS1):c.*594A>G rs886056093
NM_001430.5(EPAS1):c.*602G>C rs78271294
NM_001430.5(EPAS1):c.*680dup rs886056094
NM_001430.5(EPAS1):c.*703_*706dup rs139377540
NM_001430.5(EPAS1):c.*715_*716AG[1] rs886056096
NM_001430.5(EPAS1):c.*733C>G rs886056097
NM_001430.5(EPAS1):c.*808C>A rs368430355
NM_001430.5(EPAS1):c.*814dup rs200260946
NM_001430.5(EPAS1):c.*833G>A rs539023852
NM_001430.5(EPAS1):c.*853G>A rs10495933
NM_001430.5(EPAS1):c.*90C>T rs151042657
NM_001430.5(EPAS1):c.*983C>A rs886056099
NM_001430.5(EPAS1):c.-102C>G rs886056082
NM_001430.5(EPAS1):c.-111G>C rs530436826
NM_001430.5(EPAS1):c.-138G>T rs886056081
NM_001430.5(EPAS1):c.-140G>A rs147597862
NM_001430.5(EPAS1):c.-200A>C rs886056080
NM_001430.5(EPAS1):c.-231C>G rs750848838
NM_001430.5(EPAS1):c.-255G>T rs886056079
NM_001430.5(EPAS1):c.-316C>A rs886056078
NM_001430.5(EPAS1):c.-341dup rs149642079
NM_001430.5(EPAS1):c.-347T>G rs192684713
NM_001430.5(EPAS1):c.-452A>C rs886056076
NM_001430.5(EPAS1):c.-471C>T rs17039192
NM_001430.5(EPAS1):c.-472G>A rs886056075
NM_001430.5(EPAS1):c.-4G>A rs535202677
NM_001430.5(EPAS1):c.-58dup rs200720368
NM_001430.5(EPAS1):c.-86C>T rs886056083
NM_001430.5(EPAS1):c.1035-15T>C rs116510029
NM_001430.5(EPAS1):c.1035-6C>G rs187543960
NM_001430.5(EPAS1):c.1035-6del rs757409274
NM_001430.5(EPAS1):c.1035-7C>G rs7557402
NM_001430.5(EPAS1):c.1104G>A (p.Met368Ile) rs61757375
NM_001430.5(EPAS1):c.1121T>A (p.Phe374Tyr) rs150797491
NM_001430.5(EPAS1):c.1206G>A (p.Gln402=) rs749851497
NM_001430.5(EPAS1):c.1228G>A (p.Ala410Thr) rs539540390
NM_001430.5(EPAS1):c.1263C>T (p.Phe421=) rs142534349
NM_001430.5(EPAS1):c.146C>A (p.Ser49Tyr) rs149898744
NM_001430.5(EPAS1):c.1554+7G>A rs376028682
NM_001430.5(EPAS1):c.1737G>A (p.Pro579=) rs184760160
NM_001430.5(EPAS1):c.1824C>G (p.Phe608Leu) rs201500220
NM_001430.5(EPAS1):c.1833C>T (p.Ala611=) rs41281469
NM_001430.5(EPAS1):c.1908T>C (p.Asn636=) rs35606117
NM_001430.5(EPAS1):c.2010T>C (p.Pro670=) rs568216381
NM_001430.5(EPAS1):c.2045+8dup rs557111154
NM_001430.5(EPAS1):c.2107T>G (p.Ser703Ala) rs886056088
NM_001430.5(EPAS1):c.2171G>A (p.Gly724Glu) rs200723248
NM_001430.5(EPAS1):c.218-10C>A rs55792993
NM_001430.5(EPAS1):c.218-10_218-9insTC rs1553394835
NM_001430.5(EPAS1):c.218-11C>G rs75591953
NM_001430.5(EPAS1):c.218-11C>T rs75591953
NM_001430.5(EPAS1):c.218-11_218-10insG rs142684263
NM_001430.5(EPAS1):c.218-12C>A rs202210836
NM_001430.5(EPAS1):c.218-12C>T rs202210836
NM_001430.5(EPAS1):c.218-14_218-13insG rs781736017
NM_001430.5(EPAS1):c.218-8_218-7dup rs1553394876
NM_001430.5(EPAS1):c.218-9C>T rs75984373
NM_001430.5(EPAS1):c.218-9_218-8insT rs35508970
NM_001430.5(EPAS1):c.2296A>C (p.Thr766Pro) rs59901247
NM_001430.5(EPAS1):c.2353C>A (p.Pro785Thr) rs61518065
NM_001430.5(EPAS1):c.2365A>G (p.Ile789Val) rs749988999
NM_001430.5(EPAS1):c.2367C>T (p.Ile789=) rs755579146
NM_001430.5(EPAS1):c.2392A>G (p.Arg798Gly) rs541354758
NM_001430.5(EPAS1):c.2457G>A (p.Val819=) rs149994721
NM_001430.5(EPAS1):c.2474G>A (p.Arg825Gln) rs374829070
NM_001430.5(EPAS1):c.2496G>C (p.Glu832Asp) rs183095352
NM_001430.5(EPAS1):c.2511C>T (p.Pro837=) rs35795449
NM_001430.5(EPAS1):c.26+8G>A rs750007571
NM_001430.5(EPAS1):c.525G>A (p.Thr175=) rs115264325
NM_001430.5(EPAS1):c.574-11G>A rs199730851
NM_001430.5(EPAS1):c.574-5C>G rs150877473
NM_001430.5(EPAS1):c.768C>T (p.Tyr256=) rs374493349
NM_001430.5(EPAS1):c.779+8G>T rs201393458
NM_001430.5(EPAS1):c.780-15T>A rs17035079
NM_001430.5(EPAS1):c.858C>T (p.Ser286=) rs567851666
NM_001430.5(EPAS1):c.861G>A (p.Glu287=) rs886056085
NM_001430.5(EPAS1):c.882G>C (p.Gln294His) rs769949241
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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