ClinVar Miner

List of variants in gene EPAS1 studied for polycythemia

Included ClinVar conditions (22):
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Gene type:
ClinVar version:
Total variants: 144
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HGVS dbSNP gnomAD frequency
NM_001430.5(EPAS1):c.218-9C>T rs75984373 0.47004
NM_001430.5(EPAS1):c.218-9_218-8insT rs35508970 0.17782
NM_001430.5(EPAS1):c.2296A>C (p.Thr766Pro) rs59901247 0.14073
NM_001430.5(EPAS1):c.780-15T>A rs17035079 0.06797
NM_001430.5(EPAS1):c.*853G>A rs10495933 0.05328
NM_001430.5(EPAS1):c.2353C>A (p.Pro785Thr) rs61518065 0.04391
NM_001430.5(EPAS1):c.*1239A>G rs11539645 0.04346
NM_001430.5(EPAS1):c.*1276G>A rs1868091 0.04042
NM_001430.5(EPAS1):c.-471C>T rs17039192 0.02657
NM_001430.5(EPAS1):c.1908T>C (p.Asn636=) rs35606117 0.02613
NM_001430.5(EPAS1):c.1035-15T>C rs116510029 0.02125
NM_001430.5(EPAS1):c.2511C>T (p.Pro837=) rs35795449 0.01843
NM_001430.5(EPAS1):c.*354G>C rs116385387 0.01554
NM_001430.5(EPAS1):c.1833C>T (p.Ala611=) rs41281469 0.01075
NM_001430.5(EPAS1):c.*208T>C rs139675215 0.01006
NM_001430.5(EPAS1):c.*111A>G rs62137032 0.00937
NM_001430.5(EPAS1):c.*349T>C rs72797432 0.00872
NM_001430.5(EPAS1):c.*1272C>T rs115678594 0.00805
NM_001430.5(EPAS1):c.*1040_*1041insG rs111426869 0.00804
NM_001430.5(EPAS1):c.*1207A>C rs116816939 0.00637
NM_001430.5(EPAS1):c.*1724G>A rs114927662 0.00564
NM_001430.5(EPAS1):c.1121T>A (p.Phe374Tyr) rs150797491 0.00455
NM_001430.5(EPAS1):c.*54C>T rs142847751 0.00392
NM_001430.5(EPAS1):c.*602G>C rs78271294 0.00390
NM_001430.5(EPAS1):c.*808C>A rs368430355 0.00370
NM_001430.5(EPAS1):c.218-8_218-7dup rs1553394876 0.00358
NM_001430.5(EPAS1):c.1737G>A (p.Pro579=) rs184760160 0.00340
NM_001430.5(EPAS1):c.*1566T>C rs111528756 0.00292
NM_001430.5(EPAS1):c.*575A>C rs112556309 0.00288
NM_001430.5(EPAS1):c.*1614C>T rs112500820 0.00248
NM_001430.5(EPAS1):c.41G>A (p.Arg14Lys) rs73926269 0.00223
NM_001430.5(EPAS1):c.*842A>C rs143059873 0.00221
NM_001430.5(EPAS1):c.2457G>A (p.Val819=) rs149994721 0.00213
NM_001430.5(EPAS1):c.218-14_218-13insG rs781736017 0.00118
NM_001430.5(EPAS1):c.1104G>A (p.Met368Ile) rs61757375 0.00078
NM_001430.5(EPAS1):c.*512A>G rs186340714 0.00070
NM_001430.5(EPAS1):c.*833G>A rs539023852 0.00059
NM_001430.5(EPAS1):c.*262A>G rs188117114 0.00049
NM_001430.5(EPAS1):c.-347T>G rs192684713 0.00047
NM_001430.5(EPAS1):c.146C>A (p.Ser49Tyr) rs149898744 0.00045
NM_001430.5(EPAS1):c.1077T>C (p.Thr359=) rs149190271 0.00030
NM_001430.5(EPAS1):c.*1278C>T rs545916994 0.00024
NM_001430.5(EPAS1):c.2171G>A (p.Gly724Glu) rs200723248 0.00024
NM_001430.5(EPAS1):c.886+12G>A rs369745324 0.00016
NM_001430.5(EPAS1):c.*1225C>T rs553535570 0.00013
NM_001430.5(EPAS1):c.*1275C>A rs554001260 0.00013
NM_001430.5(EPAS1):c.*1827C>T rs886056103 0.00012
NM_001430.5(EPAS1):c.-316C>A rs886056078 0.00012
NM_001430.5(EPAS1):c.-357G>C rs1028727219 0.00011
NM_001430.5(EPAS1):c.1035-6C>G rs187543960 0.00009
NM_001430.5(EPAS1):c.1824C>G (p.Phe608Leu) rs201500220 0.00009
NM_001430.5(EPAS1):c.*1746G>A rs540911183 0.00007
NM_001430.5(EPAS1):c.*527G>T rs886056091 0.00007
NM_001430.5(EPAS1):c.2367C>T (p.Ile789=) rs755579146 0.00007
NM_001430.5(EPAS1):c.993C>T (p.Asn331=) rs200678705 0.00007
NM_001430.5(EPAS1):c.1228G>A (p.Ala410Thr) rs539540390 0.00006
NM_001430.5(EPAS1):c.1554+7G>A rs376028682 0.00006
NM_001430.5(EPAS1):c.1658C>T (p.Ala553Val) rs201311893 0.00006
NM_001430.5(EPAS1):c.*117T>A rs886056089 0.00005
NM_001430.5(EPAS1):c.*1790G>A rs532892029 0.00005
NM_001430.5(EPAS1):c.*1290C>T rs780890954 0.00004
NM_001430.5(EPAS1):c.*1305G>A rs78664136 0.00004
NM_001430.5(EPAS1):c.192G>T (p.Leu64=) rs750515166 0.00004
NM_001430.5(EPAS1):c.2365A>G (p.Ile789Val) rs749988999 0.00004
NM_001430.5(EPAS1):c.238G>A (p.Glu80Lys) rs770783327 0.00004
NM_001430.5(EPAS1):c.2473C>T (p.Arg825Trp) rs753610303 0.00004
NM_001430.5(EPAS1):c.345C>T (p.Ile115=) rs542625493 0.00004
NM_001430.5(EPAS1):c.*1182G>A rs967868215 0.00003
NM_001430.5(EPAS1):c.*150T>G rs769123299 0.00003
NM_001430.5(EPAS1):c.*1620G>C rs886056102 0.00003
NM_001430.5(EPAS1):c.*408T>C rs146764927 0.00003
NM_001430.5(EPAS1):c.1248C>T (p.Phe416=) rs761886735 0.00003
NM_001430.5(EPAS1):c.858C>T (p.Ser286=) rs567851666 0.00003
NM_001430.5(EPAS1):c.*1878T>C rs570138573 0.00002
NM_001430.5(EPAS1):c.*898C>T rs577130920 0.00002
NM_001430.5(EPAS1):c.*90C>T rs151042657 0.00002
NM_001430.5(EPAS1):c.1281T>C (p.Tyr427=) rs947956425 0.00002
NM_001430.5(EPAS1):c.1960G>A (p.Val654Ile) rs375135104 0.00002
NM_001430.5(EPAS1):c.*1729T>C rs540325300 0.00001
NM_001430.5(EPAS1):c.*486C>T rs886056090 0.00001
NM_001430.5(EPAS1):c.-452A>C rs886056076 0.00001
NM_001430.5(EPAS1):c.1821C>T (p.Ile607=) rs999859536 0.00001
NM_001430.5(EPAS1):c.2010T>C (p.Pro670=) rs568216381 0.00001
NM_001430.5(EPAS1):c.2276A>G (p.Asn759Ser) rs189263322 0.00001
NM_001430.5(EPAS1):c.2474G>A (p.Arg825Gln) rs374829070 0.00001
NM_001430.5(EPAS1):c.859G>A (p.Glu287Lys) rs777687956 0.00001
NM_001430.5(EPAS1):c.882G>C (p.Gln294His) rs769949241 0.00001
NM_001430.5(EPAS1):c.*1134T>C rs886056100
NM_001430.5(EPAS1):c.*1247dup rs546029479
NM_001430.5(EPAS1):c.*1260T>C rs148215665
NM_001430.5(EPAS1):c.*1373C>A rs112031193
NM_001430.5(EPAS1):c.*1373C>G rs112031193
NM_001430.5(EPAS1):c.*1611A>G rs571546536
NM_001430.5(EPAS1):c.*1898C>A rs1337410292
NM_001430.5(EPAS1):c.*1916C>A rs886056104
NM_001430.5(EPAS1):c.*1917G>A rs748689684
NM_001430.5(EPAS1):c.*285C>G rs1011091519
NM_001430.5(EPAS1):c.*537T>G rs1449426162
NM_001430.5(EPAS1):c.*539_*540del rs75932330
NM_001430.5(EPAS1):c.*540del rs75932330
NM_001430.5(EPAS1):c.*594A>G rs886056093
NM_001430.5(EPAS1):c.*680dup rs886056094
NM_001430.5(EPAS1):c.*703_*706dup rs139377540
NM_001430.5(EPAS1):c.*715AG[1] rs886056096
NM_001430.5(EPAS1):c.*733C>G rs886056097
NM_001430.5(EPAS1):c.*814dup rs200260946
NM_001430.5(EPAS1):c.*983C>A rs886056099
NM_001430.5(EPAS1):c.-255G>T rs886056079
NM_001430.5(EPAS1):c.-341dup rs149642079
NM_001430.5(EPAS1):c.-401G>A rs1682903258
NM_001430.5(EPAS1):c.1035-6del rs757409274
NM_001430.5(EPAS1):c.1035-7C>G rs7557402
NM_001430.5(EPAS1):c.1203C>A (p.Ala401=) rs1254793733
NM_001430.5(EPAS1):c.1206G>A (p.Gln402=) rs749851497
NM_001430.5(EPAS1):c.1263C>T (p.Phe421=) rs142534349
NM_001430.5(EPAS1):c.1601C>T (p.Pro534Leu)
NM_001430.5(EPAS1):c.1603A>G (p.Met535Val) rs137853037
NM_001430.5(EPAS1):c.1604T>C (p.Met535Thr) rs2103672173
NM_001430.5(EPAS1):c.1609G>A (p.Gly537Arg) rs137853036
NM_001430.5(EPAS1):c.1609G>T (p.Gly537Trp) rs137853036
NM_001430.5(EPAS1):c.1620C>A (p.Phe540Leu)
NM_001430.5(EPAS1):c.1635C>G (p.Ile545Met)
NM_001430.5(EPAS1):c.1857G>A (p.Pro619=)
NM_001430.5(EPAS1):c.2009C>G (p.Pro670Arg)
NM_001430.5(EPAS1):c.2045+8dup rs557111154
NM_001430.5(EPAS1):c.2069G>A (p.Arg690Gln)
NM_001430.5(EPAS1):c.2107T>G (p.Ser703Ala) rs886056088
NM_001430.5(EPAS1):c.2113A>G (p.Lys705Glu) rs759045547
NM_001430.5(EPAS1):c.2166G>A (p.Leu722=) rs147304489
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.220T>G (p.Cys74Gly)
NM_001430.5(EPAS1):c.2321G>C (p.Gly774Ala)
NM_001430.5(EPAS1):c.2342C>T (p.Pro781Leu)
NM_001430.5(EPAS1):c.2392A>G (p.Arg798Gly) rs541354758
NM_001430.5(EPAS1):c.241G>A (p.Ala81Thr)
NM_001430.5(EPAS1):c.2496G>C (p.Glu832Asp) rs183095352
NM_001430.5(EPAS1):c.826T>A (p.Ser276Thr)
NM_001430.5(EPAS1):c.861G>A (p.Glu287=) rs886056085

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