ClinVar Miner

List of variants in gene combination HBA1, LOC106804613 reported as likely benign by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_000558.5(HBA1):c.95+38C>T rs556086584 0.00182
NM_000558.5(HBA1):c.396T>C (p.Ser132=) rs149264789 0.00085
NM_000558.5(HBA1):c.95+41G>T rs545248706 0.00032
NM_000558.3(HBA1):c.154G>A (p.Gly52Ser) rs33960522 0.00030
NM_000558.5(HBA1):c.301-17C>A rs571422135 0.00025
NM_000558.5(HBA1):c.300+47C>A rs748369967 0.00018
NM_000558.5(HBA1):c.198G>A (p.Ala66=) rs772025927 0.00013
NM_000558.5(HBA1):c.207C>G (p.Asn69Lys) rs1060339 0.00007
NM_000558.4(HBA1):c.-41C>G rs750737757 0.00006
NM_000558.3(HBA1):c.341T>A (p.Leu114His) rs35654345 0.00001
NM_000558.5(HBA1):c.255C>A (p.Ser85Arg) rs33996798 0.00001
NM_000558.5(HBA1):c.301-49C>T rs1237458487 0.00001
NM_000558.5(HBA1):c.62A>C (p.His21Pro) rs33943087 0.00001
NM_000558.5(HBA1):c.63C>A (p.His21Gln) rs281864502 0.00001
NM_000558.3(HBA1):c.154G>C (p.Gly52Arg) rs33960522
NM_000558.3(HBA1):c.226G>T (p.Asp76Tyr) rs33977363
NM_000558.3(HBA1):c.270C>G (p.His90Gln) rs1061009
NM_000558.3(HBA1):c.272A>C (p.Lys91Thr) rs33911106
NM_000558.3(HBA1):c.349G>A (p.Glu117Lys) rs63749882
NM_000558.3(HBA1):c.49A>G (p.Lys17Glu) rs41407250
NM_000558.4(HBA1):c.-52C>T rs1276035978
NM_000558.5(HBA1):c.223G>C (p.Asp75His) rs28928875
NM_000558.5(HBA1):c.24G>C (p.Lys8Asn) rs34410516
NM_000558.5(HBA1):c.273G>C (p.Lys91Asn) rs33914470
NM_000558.5(HBA1):c.309C>A (p.Ser103Arg) rs34098449
NM_000558.5(HBA1):c.350A>C (p.Glu117Ala) rs35932809
NM_000558.5(HBA1):c.397G>A (p.Val133Met)
NM_000558.5(HBA1):c.417C>G (p.Ser139=)
NM_000558.5(HBA1):c.47G>A (p.Gly16Asp) rs281865560
NM_000558.5(HBA1):c.84G>T (p.Glu28Asp) rs41530750
NM_000558.5(HBA1):c.91G>A (p.Glu31Lys) rs33993166
NM_000558.5(HBA1):c.95+9C>T

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