ClinVar Miner

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

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Total variants: 8
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NM_001430.5(EPAS1):c.*540del rs75932330
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.-472G>A rs886056075
NM_001430.5(EPAS1):c.1035-6del rs757409274
NM_001430.5(EPAS1):c.218-10_218-9insTC rs1553394835
NM_001430.5(EPAS1):c.218-11_218-10insG rs142684263

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