ClinVar Miner

List of variants in gene EPAS1 reported as uncertain significance for hematologic disorder

Included ClinVar conditions (819):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 63
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HGVS dbSNP gnomAD frequency
NM_001430.5(EPAS1):c.*833G>A rs539023852 0.00059
NM_001430.5(EPAS1):c.-347T>G rs192684713 0.00047
NM_001430.5(EPAS1):c.*1278C>T rs545916994 0.00024
NM_001430.5(EPAS1):c.*1225C>T rs553535570 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.*527G>T rs886056091 0.00007
NM_001430.5(EPAS1):c.2367C>T (p.Ile789=) rs755579146 0.00007
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.*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.*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.2474G>A (p.Arg825Gln) rs374829070 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.*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.*540del rs75932330
NM_001430.5(EPAS1):c.*594A>G rs886056093
NM_001430.5(EPAS1):c.*680dup rs886056094
NM_001430.5(EPAS1):c.*715AG[1] rs886056096
NM_001430.5(EPAS1):c.*733C>G rs886056097
NM_001430.5(EPAS1):c.*983C>A rs886056099
NM_001430.5(EPAS1):c.-255G>T rs886056079
NM_001430.5(EPAS1):c.-401G>A rs1682903258
NM_001430.5(EPAS1):c.1035-6del rs757409274
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.1620C>A (p.Phe540Leu)
NM_001430.5(EPAS1):c.1635C>G (p.Ile545Met)
NM_001430.5(EPAS1):c.2009C>G (p.Pro670Arg)
NM_001430.5(EPAS1):c.2069G>A (p.Arg690Gln)
NM_001430.5(EPAS1):c.2107T>G (p.Ser703Ala) rs886056088
NM_001430.5(EPAS1):c.218-10_218-9insTC rs1553394835
NM_001430.5(EPAS1):c.218-11_218-10insG rs142684263
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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