List of variants in gene combination HBA2, LOC106804612 reported as uncertain significance for thalassemia

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

Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_000517.6(HBA2):c.146T>G (p.Leu49Arg)	rs41392146	0.00001
NM_000517.4(HBA2):c.-157C>T
NM_000517.6(HBA2):c.*108G>A
NM_000517.6(HBA2):c.*47G>A	rs4021971
NM_000517.6(HBA2):c.*94A>G	rs63751269
NM_000517.6(HBA2):c.-181C>G
NM_000517.6(HBA2):c.-59C>T	rs1277780626
NM_000517.6(HBA2):c.24G>T (p.Lys8Asn)	rs281860604
NM_000517.6(HBA2):c.30C>G (p.Asn10Lys)	rs111033604
NM_000517.6(HBA2):c.358C>G (p.Pro120Ala)	rs1262943621
NM_000517.6(HBA2):c.394T>C (p.Ser132Pro)
NM_000517.6(HBA2):c.420del (p.Lys140fs)	rs63750520
NM_000517.6(HBA2):c.45G>C (p.Trp15Cys)	rs63750367
NM_000517.6(HBA2):c.70G>A (p.Glu24Lys)	rs281864819
NM_000517.6(HBA2):c.74A>G (p.Tyr25Cys)	rs1902038723
NM_000517.6(HBA2):c.83A>G (p.Glu28Gly)	rs281864823

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