ClinVar Miner

List of variants in gene combination HBA1, LOC106804613 studied for not specified

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_000558.5(HBA1):c.-24C>G rs374054030 0.04854
NM_000558.5(HBA1):c.95+39C>T rs577938658 0.01700
NM_000558.5(HBA1):c.301-17C>A rs571422135 0.00025
NM_000558.5(HBA1):c.198G>A (p.Ala66=) rs772025927 0.00013
NM_000558.5(HBA1):c.364G>A (p.Val122Met) rs63751008 0.00003
NM_000558.5(HBA1):c.332C>T (p.Ala111Val) rs63749948 0.00002
NM_000558.3(HBA1):c.-80C>A rs1555449548
NM_000558.3(HBA1):c.287C>T (p.Pro96Leu) rs33931314
NM_000558.3(HBA1):c.310C>T (p.His104Tyr) rs28928884
NM_000558.3(HBA1):c.49A>G (p.Lys17Glu) rs41407250
NM_000558.5(HBA1):c.-3_-2del
NM_000558.5(HBA1):c.142G>C (p.Asp48His)
NM_000558.5(HBA1):c.19_21del (p.Asp7del) rs281865565
NM_000558.5(HBA1):c.45G>A (p.Trp15Ter) rs1596573335
NM_000558.5(HBA1):c.98T>A (p.Met33Lys) rs281864566

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