ClinVar Miner

List of variants in gene EPAS1 reported as likely benign for Familial erythrocytosis

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Gene type:
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Total variants: 48
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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.*1207A>C rs116816939
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.*1278C>T rs545916994
NM_001430.5(EPAS1):c.*1614C>T rs112500820
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.*1878T>C rs570138573
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.*54C>T rs142847751
NM_001430.5(EPAS1):c.*602G>C rs78271294
NM_001430.5(EPAS1):c.*808C>A rs368430355
NM_001430.5(EPAS1):c.*814dup rs200260946
NM_001430.5(EPAS1):c.*90C>T rs151042657
NM_001430.5(EPAS1):c.-140G>A rs147597862
NM_001430.5(EPAS1):c.-347T>G rs192684713
NM_001430.5(EPAS1):c.-4G>A rs535202677
NM_001430.5(EPAS1):c.1035-15T>C rs116510029
NM_001430.5(EPAS1):c.1035-6C>G rs187543960
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.1228G>A (p.Ala410Thr) rs539540390
NM_001430.5(EPAS1):c.1737G>A (p.Pro579=) rs184760160
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.218-10C>A rs55792993
NM_001430.5(EPAS1):c.218-11C>G rs75591953
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.2392A>G (p.Arg798Gly) rs541354758
NM_001430.5(EPAS1):c.2457G>A (p.Val819=) rs149994721
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.858C>T (p.Ser286=) rs567851666

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