List of variants in gene combination HBA1, LOC106804613 reported as pathogenic for alpha thalassemia spectrum

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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: 18

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HGVS	dbSNP	gnomAD frequency
NM_000558.5(HBA1):c.96-1G>A	rs34883113	0.00017
NM_000558.5(HBA1):c.237del (p.Asn79fs)	rs767911847	0.00009
NM_000558.5(HBA1):c.1A>G (p.Met1Val)	rs34220980	0.00003
NM_000558.5(HBA1):c.358C>T (p.Pro120Ser)	rs63750751	0.00003
NC_000016.10:g.175997_178388del
NM_000558.3(HBA1):c.179G>A (p.Gly60Asp)	rs28928878
NM_000558.5(HBA1):c.113CCA[2] (p.Thr40del)	rs63751150
NM_000558.5(HBA1):c.178G>C (p.Gly60Arg)	rs281864895
NM_000558.5(HBA1):c.187del (p.Val63fs)	rs1377412693
NM_000558.5(HBA1):c.188_190del (p.Val63del)	rs35672478
NM_000558.5(HBA1):c.223G>C (p.Asp75His)	rs28928875
NM_000558.5(HBA1):c.2T>G (p.Met1Arg)	rs1316527998
NM_000558.5(HBA1):c.328del (p.Leu110fs)	rs281864535
NM_000558.5(HBA1):c.396dup (p.Val133fs)	rs34021271
NM_000558.5(HBA1):c.43T>C (p.Trp15Arg)	rs33964317
NM_000558.5(HBA1):c.44G>A (p.Trp15Ter)	rs63750090
NM_000558.5(HBA1):c.94_95del (p.Arg32fs)	rs1596573477
NM_000558.5(HBA1):c.95+1G>A	rs1201093320

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