List of variants in gene EPAS1 studied for Familial erythrocytosis

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_001430.5(EPAS1):c.218-9_218-8insT	rs35508970	0.17782
NM_001430.5(EPAS1):c.1040_1041insG	rs111426869	0.00804
NM_001430.5(EPAS1):c.218-8_218-7dup	rs1553394876	0.00358
NM_001430.5(EPAS1):c.218-14_218-13insG	rs781736017	0.00118
NM_001430.5(EPAS1):c.*1746G>A	rs540911183	0.00007
NM_001430.5(EPAS1):c.*1247dup	rs546029479
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.*715AG[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.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

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