ClinVar Miner

List of variants in gene EPAS1 reported as benign for hematologic disorder

Included ClinVar conditions (819):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 60
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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.*1207A>C rs116816939 0.00637
NM_001430.5(EPAS1):c.*1724G>A rs114927662 0.00564
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.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.1104G>A (p.Met368Ile) rs61757375 0.00078
NM_001430.5(EPAS1):c.*512A>G rs186340714 0.00070
NM_001430.5(EPAS1):c.*262A>G rs188117114 0.00049
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.2171G>A (p.Gly724Glu) rs200723248 0.00024
NM_001430.5(EPAS1):c.*1275C>A rs554001260 0.00013
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.993C>T (p.Asn331=) rs200678705 0.00007
NM_001430.5(EPAS1):c.1228G>A (p.Ala410Thr) rs539540390 0.00006
NM_001430.5(EPAS1):c.1658C>T (p.Ala553Val) rs201311893 0.00006
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.858C>T (p.Ser286=) rs567851666 0.00003
NM_001430.5(EPAS1):c.*1878T>C rs570138573 0.00002
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.*1260T>C rs148215665
NM_001430.5(EPAS1):c.*539_*540del rs75932330
NM_001430.5(EPAS1):c.*703_*706dup rs139377540
NM_001430.5(EPAS1):c.-341dup rs149642079
NM_001430.5(EPAS1):c.1035-7C>G rs7557402
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.218-11C>G rs75591953
NM_001430.5(EPAS1):c.218-11C>T rs75591953
NM_001430.5(EPAS1):c.218-12C>A rs202210836
NM_001430.5(EPAS1):c.218-12C>T rs202210836

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