List of variants in gene combination HBA2, LOC106804612 reported as pathogenic for alpha 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: 30

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HGVS	dbSNP	gnomAD frequency
NM_000517.6(HBA2):c.60del (p.His21fs)	rs886041399	0.00006
NM_000517.6(HBA2):c.69del (p.Glu24fs)	rs1270810159	0.00006
NM_000517.6(HBA2):c.143del (p.Asp48fs)	rs281864539	0.00004
NM_000517.6(HBA2):c.96-2A>G	rs41457746	0.00004
NM_000517.6(HBA2):c.*92A>G	rs63750067	0.00002
NM_000517.6(HBA2):c.95+1G>A	rs63750158	0.00002
NM_000517.6(HBA2):c.349G>T (p.Glu117Ter)	rs33987053	0.00001
NM_000517.6(HBA2):c.377T>G (p.Leu126Arg)	rs41397847	0.00001
NM_000517.4(HBA2):c.429A>T (p.Ter143Tyr)	rs41412046
NM_000517.4:c.[339C>G;340_351delCTCCCCGCCGAG]
NM_000517.6(HBA2):c.93_94del	rs63751268
NM_000517.6(HBA2):c.*94A>G	rs63751269
NM_000517.6(HBA2):c.179G>A (p.Gly60Asp)	rs281864846
NM_000517.6(HBA2):c.1A>G (p.Met1Val)	rs121909803
NM_000517.6(HBA2):c.1del (p.Met1fs)	rs587776828
NM_000517.6(HBA2):c.2T>C (p.Met1Thr)	rs111033603
NM_000517.6(HBA2):c.2del (p.Met1fs)	rs63750678
NM_000517.6(HBA2):c.300+1G>A
NM_000517.6(HBA2):c.301-1G>A	rs587776827
NM_000517.6(HBA2):c.313T>C (p.Cys105Arg)	rs1263969213
NM_000517.6(HBA2):c.314G>A (p.Cys105Tyr)	rs41417548
NM_000517.6(HBA2):c.329T>G (p.Leu110Arg)	rs41479844
NM_000517.6(HBA2):c.377T>A (p.Leu126Gln)	rs41397847
NM_000517.6(HBA2):c.377T>C (p.Leu126Pro)	rs41397847
NM_000517.6(HBA2):c.389T>C (p.Leu130Pro)
NM_000517.6(HBA2):c.54del (p.Gly19fs)	rs1902037470
NM_000517.6(HBA2):c.70G>T (p.Glu24Ter)	rs281864819
NM_000517.6(HBA2):c.73T>G (p.Tyr25Asp)	rs281864821
NM_000517.6(HBA2):c.75T>G (p.Tyr25Ter)	rs281864550
NM_000517.6(HBA2):c.95+2_95+6del	rs41474145

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