List of variants in gene combination HBA2, LOC106804612 reported as uncertain significance by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_000517.6(HBA2):c.146T>G (p.Leu49Arg)	rs41392146	0.00001
NM_000517.6(HBA2):c.124A>G (p.Thr42Ala)	rs281860654
NM_000517.6(HBA2):c.169A>G (p.Lys57Glu)	rs281864842
NM_000517.6(HBA2):c.180C>T (p.Gly60=)	rs1596569781
NM_000517.6(HBA2):c.224A>G (p.Asp75Gly)	rs281864856
NM_000517.6(HBA2):c.24G>T (p.Lys8Asn)	rs281860604
NM_000517.6(HBA2):c.263A>C (p.His88Pro)
NM_000517.6(HBA2):c.30C>G (p.Asn10Lys)	rs111033604
NM_000517.6(HBA2):c.326C>A (p.Thr109Asn)	rs63750010
NM_000517.6(HBA2):c.420del (p.Lys140fs)	rs63750520
NM_000517.6(HBA2):c.70G>A (p.Glu24Lys)	rs281864819
NM_000517.6(HBA2):c.83A>G (p.Glu28Gly)	rs281864823

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