List of variants in gene EPAS1 reported as uncertain significance for primary familial polycythemia due to EPO receptor mutation

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: 7

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HGVS	dbSNP	gnomAD frequency
NM_001430.5(EPAS1):c.*540del	rs75932330
NM_001430.5(EPAS1):c.*680dup	rs886056094
NM_001430.5(EPAS1):c.*715AG[1]	rs886056096
NM_001430.5(EPAS1):c.*733C>G	rs886056097
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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