ClinVar Miner

List of variants in gene EPAS1 studied for Familial erythrocytosis

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Total variants: 107
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HGVS dbSNP
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

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