List of variants reported as pathogenic for Erythrocytosis, familial, 7

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NC_000016.10:g.173151A>T	rs281864828
NM_000517.6(HBA2):c.186G>C (p.Lys62Asn)	rs33985574
NM_000517.6(HBA2):c.257A>T (p.Asp86Val)	rs41331747
NM_000517.6(HBA2):c.266C>T (p.Ala89Val)	rs33983416
NM_000517.6(HBA2):c.418A>G (p.Lys140Glu)	rs41361546
NM_000558.3(HBA1):c.134C>T (p.Pro45Leu)	rs33978134
NM_000558.3(HBA1):c.20A>G (p.Asp7Gly)	rs33986902
NM_000558.3(HBA1):c.278G>A (p.Arg93Gln)	rs33991779
NM_000558.3(HBA1):c.278G>T (p.Arg93Leu)	rs33991779
NM_000558.3(HBA1):c.424C>T (p.Arg142Cys)	rs33991910
NM_000558.3(HBA1):c.425G>A (p.Arg142His)	rs33935328
NM_000558.3(HBA1):c.425G>T (p.Arg142Leu)	rs33935328
NM_000558.5(HBA1):c.265G>T (p.Ala89Ser)	rs35239527
NM_000558.5(HBA1):c.379G>C (p.Asp127His)	rs63750950
NM_000558.5(HBA1):c.421T>C (p.Tyr141His)	rs35723200
NM_000558.5(HBA1):c.45G>A (p.Trp15Ter)	rs1596573335

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