List of variants in gene combination HBA2, LOC106804612 reported as pathogenic for Heinz body anemia; alpha Thalassemia; Hemoglobin H disease; 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: 12

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HGVS	dbSNP	gnomAD frequency
NM_000517.6(HBA2):c.60del (p.His21fs)	rs886041399	0.00006
NM_000517.6(HBA2):c.69del (p.Glu24fs)	rs1270810159	0.00006
NM_000517.6(HBA2):c.96-2A>G	rs41457746	0.00004
NM_000517.6(HBA2):c.*92A>G	rs63750067	0.00003
NM_000517.6(HBA2):c.75T>G (p.Tyr25Ter)	rs281864550	0.00002
NM_000517.6(HBA2):c.*94A>G	rs63751269	0.00001
NM_000517.6(HBA2):c.2del (p.Met1fs)	rs63750678	0.00001
NM_000517.6(HBA2):c.93_94del	rs63751268
NM_000517.6(HBA2):c.1A>G (p.Met1Val)	rs121909803
NM_000517.6(HBA2):c.377T>C (p.Leu126Pro)	rs41397847
NM_000517.6(HBA2):c.428A>C (p.Ter143Ser)	rs41321345
NM_000517.6(HBA2):c.95+2_95+6del	rs41474145

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