List of variants in gene combination HBA1, LOC106804613 reported as pathogenic for not provided

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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.358C>T (p.Pro120Ser)	rs63750751	0.00004
NC_000016.10:g.(?_176012)_(177299_?)del
NC_000016.10:g.(?_176717)_(177411_?)del
NM_000558.3(HBA1):c.179G>A (p.Gly60Asp)	rs28928878
NM_000558.5(HBA1):c.178G>C (p.Gly60Arg)	rs281864895
NM_000558.5(HBA1):c.187del (p.Val63fs)	rs1377412693
NM_000558.5(HBA1):c.1A>G (p.Met1Val)
NM_000558.5(HBA1):c.283_300+3dup	rs1902161681
NM_000558.5(HBA1):c.300+1G>T	rs758093235
NM_000558.5(HBA1):c.328del (p.Leu110fs)	rs281864535
NM_000558.5(HBA1):c.358_362del (p.Pro120fs)	rs2142021563
NM_000558.5(HBA1):c.43T>C (p.Trp15Arg)	rs33964317
NM_000558.5(HBA1):c.94_95del (p.Arg32fs)	rs1596573477
NM_000558.5(HBA1):c.95+1G>A	rs1201093320
NM_000558.5(HBA1):c.96-2A>G
NM_000558.5(HBA1):c.98T>A (p.Met33Lys)	rs281864566

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