List of variants in gene combination EPAS1, LOC126806210 reported as uncertain significance for hematologic disorder

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001430.5(EPAS1):c.587C>T (p.Thr196Met)
NM_001430.5(EPAS1):c.591C>A (p.Gly197=)	rs1392533284
NM_001430.5(EPAS1):c.605A>G (p.Tyr202Cys)

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