List of variants in gene combination HBA2, LOC106804612 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: 21

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HGVS	dbSNP	gnomAD frequency
NM_000517.6(HBA2):c.69C>T (p.Gly23=)	rs63751457	0.00004
NM_000517.6(HBA2):c.96-2A>G	rs41457746	0.00004
NM_000517.6(HBA2):c.178G>C (p.Gly60Arg)	rs41328049	0.00003
NM_000517.6(HBA2):c.*92A>G	rs63750067	0.00002
NM_000517.6(HBA2):c.349G>T (p.Glu117Ter)	rs33987053	0.00001
NM_000517.4(HBA2):c.427T>A (p.Ter143Lys)	rs41464951
NM_000517.4(HBA2):c.429A>T (p.Ter143Tyr)	rs41412046
NM_000517.6(HBA2):c.118_124delinsTACTTC (p.Thr40fs)	rs587776826
NM_000517.6(HBA2):c.186G>C (p.Lys62Asn)	rs33985574
NM_000517.6(HBA2):c.1A>G (p.Met1Val)	rs121909803
NM_000517.6(HBA2):c.1del (p.Met1fs)	rs587776828
NM_000517.6(HBA2):c.257A>T (p.Asp86Val)	rs41331747
NM_000517.6(HBA2):c.266C>T (p.Ala89Val)	rs33983416
NM_000517.6(HBA2):c.2T>C (p.Met1Thr)	rs111033603
NM_000517.6(HBA2):c.2del (p.Met1fs)	rs63750678
NM_000517.6(HBA2):c.301-1G>A	rs587776827
NM_000517.6(HBA2):c.314G>A (p.Cys105Tyr)	rs41417548
NM_000517.6(HBA2):c.418A>G (p.Lys140Glu)	rs41361546
NM_000517.6(HBA2):c.70G>T (p.Glu24Ter)	rs281864819
NM_000517.6(HBA2):c.89T>C (p.Leu30Pro)	rs41341344
NM_000517.6(HBA2):c.96G>Y (p.Arg32Ser)	rs111033606

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