ClinVar Miner

List of variants in gene EPAS1 studied for Familial erythrocytosis

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Total variants: 20
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HGVS dbSNP
NM_001430.5(EPAS1):c.*1040_*1041insG rs111426869
NM_001430.5(EPAS1):c.*1247dup rs546029479
NM_001430.5(EPAS1):c.*1746G>A rs540911183
NM_001430.5(EPAS1):c.*539_*540del rs75932330
NM_001430.5(EPAS1):c.*540del rs75932330
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.*814dup rs200260946
NM_001430.5(EPAS1):c.-341dup rs149642079
NM_001430.5(EPAS1):c.-472G>A rs886056075
NM_001430.5(EPAS1):c.-58dup rs200720368
NM_001430.5(EPAS1):c.1035-6del rs757409274
NM_001430.5(EPAS1):c.2045+8dup rs557111154
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.218-14_218-13insG rs781736017
NM_001430.5(EPAS1):c.218-8_218-7dup rs1553394876
NM_001430.5(EPAS1):c.218-9_218-8insT rs35508970

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