List of variants in gene combination HBA1, LOC106804613 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: 13

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HGVS	dbSNP	gnomAD frequency
NM_000558.5(HBA1):c.396T>C (p.Ser132=)	rs149264789	0.00085
NM_000558.5(HBA1):c.198G>A (p.Ala66=)	rs772025927	0.00013
NM_000558.5(HBA1):c.301-9T>C	rs368241947	0.00013
NM_000558.3(HBA1):c.193G>C (p.Asp65His)	rs33984024	0.00004
NM_000558.5(HBA1):c.337C>G (p.His113Asp)	rs34830032	0.00001
NM_000558.5(HBA1):c.364G>A (p.Val122Met)	rs63751008	0.00001
NM_000558.3(HBA1):c.20A>G (p.Asp7Gly)	rs33986902
NM_000558.4(HBA1):c.-286C>G
NM_000558.5(HBA1):c.*79C>A
NM_000558.5(HBA1):c.-37A>C
NM_000558.5(HBA1):c.150C>A (p.Ser50Arg)	rs1318437795
NM_000558.5(HBA1):c.17C>A (p.Ala6Asp)	rs34090856
NM_000558.5(HBA1):c.257A>T (p.Asp86Val)	rs1902160217

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