List of variants in gene EPAS1 reported as likely benign for bone marrow disorder

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_001430.5(EPAS1):c.1035-15T>C	rs116510029	0.02125
NM_001430.5(EPAS1):c.2511C>T (p.Pro837=)	rs35795449	0.01843
NM_001430.5(EPAS1):c.1040_1041insG	rs111426869	0.00804
NM_001430.5(EPAS1):c.1121T>A (p.Phe374Tyr)	rs150797491	0.00455
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.1104G>A (p.Met368Ile)	rs61757375	0.00078
NM_001430.5(EPAS1):c.886+12G>A	rs369745324	0.00016
NM_001430.5(EPAS1):c.*1746G>A	rs540911183	0.00007
NM_001430.5(EPAS1):c.1554+7G>A	rs376028682	0.00006
NM_001430.5(EPAS1):c.238G>A (p.Glu80Lys)	rs770783327	0.00004
NM_001430.5(EPAS1):c.859G>A (p.Glu287Lys)	rs777687956	0.00001
NM_001430.5(EPAS1):c.*1247dup	rs546029479
NM_001430.5(EPAS1):c.*1373C>A	rs112031193
NM_001430.5(EPAS1):c.*814dup	rs200260946
NM_001430.5(EPAS1):c.1857G>A (p.Pro619=)
NM_001430.5(EPAS1):c.2045+8dup	rs557111154

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