ClinVar Miner

List of variants studied for Erythrocytosis, familial, 7

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_000517.6(HBA2):c.*107A>G rs2541640 0.99433
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.369C>G (p.His123Gln) rs41479347
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.300+1G>A rs758093235
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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