List of variants in gene combination HBA1, LOC106804613 reported as pathogenic by OMIM

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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_000558.5(HBA1):c.237del (p.Asn79fs)	rs767911847	0.00009
NM_000558.3(HBA1):c.134C>T (p.Pro45Leu)	rs33978134
NM_000558.3(HBA1):c.179G>A (p.Gly60Asp)	rs28928878
NM_000558.3(HBA1):c.20A>G (p.Asp7Gly)	rs33986902
NM_000558.3(HBA1):c.278G>A (p.Arg93Gln)	rs33991779
NM_000558.3(HBA1):c.278G>T (p.Arg93Leu)	rs33991779
NM_000558.3(HBA1):c.424C>T (p.Arg142Cys)	rs33991910
NM_000558.3(HBA1):c.425G>A (p.Arg142His)	rs33935328
NM_000558.3(HBA1):c.425G>T (p.Arg142Leu)	rs33935328
NM_000558.5(HBA1):c.188_190del (p.Val63del)	rs35672478
NM_000558.5(HBA1):c.196_228del (p.Ala66_Asp76del)
NM_000558.5(HBA1):c.265G>T (p.Ala89Ser)	rs35239527
NM_000558.5(HBA1):c.283_300+3dup	rs1902161681
NM_000558.5(HBA1):c.379G>C (p.Asp127His)	rs63750950
NM_000558.5(HBA1):c.410T>G (p.Leu137Arg)	rs34635364
NM_000558.5(HBA1):c.421T>C (p.Tyr141His)	rs35723200

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