List of variants in gene EPOR reported as uncertain significance for familial polycythemia

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: 22

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HGVS	dbSNP	gnomAD frequency
NM_000121.4(EPOR):c.596T>C (p.Leu199Pro)	rs750657898	0.00020
NM_000121.4(EPOR):c.-25G>A	rs1368665202	0.00004
NM_000121.4(EPOR):c.-68G>A	rs886054194	0.00001
NM_000121.4(EPOR):c.116-10C>T	rs1232303475	0.00001
NM_000121.4(EPOR):c.13G>A (p.Gly5Arg)	rs781761386	0.00001
NM_000121.4(EPOR):c.1467T>C (p.Tyr489=)	rs770608744	0.00001
NM_000121.4(EPOR):c.610G>C (p.Glu204Gln)	rs776887278	0.00001
NM_000121.4(EPOR):c.861G>A (p.Pro287=)	rs369085901	0.00001
NM_000121.4(EPOR):c.980C>T (p.Pro327Leu)	rs776698147	0.00001
NM_000121.4(EPOR):c.186_187dup	rs528356712
NM_000121.4(EPOR):c.*619C>T	rs886054191
NM_000121.4(EPOR):c.*776A>G	rs553452571
NM_000121.4(EPOR):c.-8G>T	rs886054193
NM_000121.4(EPOR):c.-9G>A	rs1358532565
NM_000121.4(EPOR):c.1287G>A (p.Leu429=)	rs1968309037
NM_000121.4(EPOR):c.1362C>G (p.Tyr454Ter)
NM_000121.4(EPOR):c.499C>T (p.Leu167Phe)
NM_000121.4(EPOR):c.558C>A (p.Ala186=)	rs377322757
NM_000121.4(EPOR):c.559G>T (p.Gly187Cys)	rs775215856
NM_000121.4(EPOR):c.663C>T (p.Arg221=)	rs747618605
NM_000121.4(EPOR):c.864C>T (p.Ser288=)	rs886054192
NM_000121.4(EPOR):c.901A>G (p.Lys301Glu)	rs1968317522

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