List of variants in gene combination HBA2, LOC106804612 reported as pathogenic for Erythrocytosis, familial, 7

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
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

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