ClinVar Miner

List of variants in gene EPAS1 reported as uncertain significance for Familial erythrocytosis

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Total variants: 44
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HGVS dbSNP
NM_001430.5(EPAS1):c.*1134T>C rs886056100
NM_001430.5(EPAS1):c.*117T>A rs886056089
NM_001430.5(EPAS1):c.*1225C>T rs553535570
NM_001430.5(EPAS1):c.*1290C>T rs780890954
NM_001430.5(EPAS1):c.*1373C>A rs112031193
NM_001430.5(EPAS1):c.*1620G>C rs886056102
NM_001430.5(EPAS1):c.*1827C>T rs886056103
NM_001430.5(EPAS1):c.*1916C>A rs886056104
NM_001430.5(EPAS1):c.*486C>T rs886056090
NM_001430.5(EPAS1):c.*527G>T rs886056091
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.*715_*716AG[1] rs886056096
NM_001430.5(EPAS1):c.*733C>G rs886056097
NM_001430.5(EPAS1):c.*833G>A rs539023852
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.-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.-452A>C rs886056076
NM_001430.5(EPAS1):c.-472G>A rs886056075
NM_001430.5(EPAS1):c.-86C>T rs886056083
NM_001430.5(EPAS1):c.1035-6del rs757409274
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.146C>A (p.Ser49Tyr) rs149898744
NM_001430.5(EPAS1):c.1554+7G>A rs376028682
NM_001430.5(EPAS1):c.1824C>G (p.Phe608Leu) rs201500220
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.218-10_218-9insTC rs1553394835
NM_001430.5(EPAS1):c.218-11_218-10insG rs142684263
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.2474G>A (p.Arg825Gln) rs374829070
NM_001430.5(EPAS1):c.2496G>C (p.Glu832Asp) rs183095352
NM_001430.5(EPAS1):c.26+8G>A rs750007571
NM_001430.5(EPAS1):c.861G>A (p.Glu287=) rs886056085
NM_001430.5(EPAS1):c.882G>C (p.Gln294His) rs769949241

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