ClinVar Miner

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

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Total variants: 5
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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.-58dup rs200720368
NM_001430.5(EPAS1):c.218-9_218-8insT rs35508970

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