ClinVar Miner

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

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Total variants: 74
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HGVS dbSNP gnomAD frequency
NM_000558.5(HBA1):c.-24C>G rs374054030 0.04854
NM_000558.5(HBA1):c.300+55G>T rs148228241 0.01925
NM_000558.5(HBA1):c.95+39C>T rs577938658 0.01700
NM_000558.5(HBA1):c.*46C>A rs141514155 0.01440
NM_000558.5(HBA1):c.-42C>T rs370305736 0.00968
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.96-1G>A rs34883113 0.00017
NM_000558.5(HBA1):c.198G>A (p.Ala66=) rs772025927 0.00013
NM_000558.5(HBA1):c.237del (p.Asn79fs) rs767911847 0.00009
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.193G>C (p.Asp65His) rs33984024 0.00004
NM_000558.5(HBA1):c.358C>T (p.Pro120Ser) rs63750751 0.00004
NM_000558.5(HBA1):c.364G>A (p.Val122Met) rs63751008 0.00003
NM_000558.3(HBA1):c.341T>A (p.Leu114His) rs35654345 0.00001
NM_000558.3(HBA1):c.389T>C (p.Leu130Pro) rs35993655 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.326C>A (p.Thr109Asn) rs756810015 0.00001
NM_000558.5(HBA1):c.337C>G (p.His113Asp) rs34830032 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.134C>T (p.Pro45Leu) rs33978134
NM_000558.3(HBA1):c.142G>A (p.Asp48Asn) rs34269448
NM_000558.3(HBA1):c.154G>C (p.Gly52Arg) rs33960522
NM_000558.3(HBA1):c.179G>A (p.Gly60Asp) rs28928878
NM_000558.3(HBA1):c.20A>G (p.Asp7Gly) rs33986902
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.287C>T (p.Pro96Leu) rs33931314
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.104T>G (p.Leu35Arg) rs35203445
NM_000558.5(HBA1):c.150C>A (p.Ser50Arg) rs1318437795
NM_000558.5(HBA1):c.163C>G (p.Gln55Glu) rs35317336
NM_000558.5(HBA1):c.17C>A (p.Ala6Asp) rs34090856
NM_000558.5(HBA1):c.186G>T (p.Lys62Asn) rs281864775
NM_000558.5(HBA1):c.187del (p.Val63fs) rs1377412693
NM_000558.5(HBA1):c.19G>C (p.Asp7His) rs33961916
NM_000558.5(HBA1):c.19_21del (p.Asp7del) rs281865565
NM_000558.5(HBA1):c.1A>G (p.Met1Val)
NM_000558.5(HBA1):c.223G>C (p.Asp75His) rs28928875
NM_000558.5(HBA1):c.223GAC[1] (p.Asp76del) rs759750475
NM_000558.5(HBA1):c.237C>A (p.Asn79Lys)
NM_000558.5(HBA1):c.24G>C (p.Lys8Asn) rs34410516
NM_000558.5(HBA1):c.256G>C (p.Asp86His) rs33915947
NM_000558.5(HBA1):c.273G>C (p.Lys91Asn) rs33914470
NM_000558.5(HBA1):c.283_300+3dup rs1902161681
NM_000558.5(HBA1):c.300+1G>T rs758093235
NM_000558.5(HBA1):c.309C>A (p.Ser103Arg) rs34098449
NM_000558.5(HBA1):c.326C>T (p.Thr109Ile)
NM_000558.5(HBA1):c.328del (p.Leu110fs) rs281864535
NM_000558.5(HBA1):c.332C>A (p.Ala111Asp) rs63749948
NM_000558.5(HBA1):c.350A>C (p.Glu117Ala) rs35932809
NM_000558.5(HBA1):c.362C>A (p.Ala121Glu) rs63749927
NM_000558.5(HBA1):c.397G>A (p.Val133Met)
NM_000558.5(HBA1):c.416C>G (p.Ser139Cys) rs63749989
NM_000558.5(HBA1):c.417C>G (p.Ser139=)
NM_000558.5(HBA1):c.45G>A (p.Trp15Ter) rs1596573335
NM_000558.5(HBA1):c.47G>A (p.Gly16Asp) rs281865560
NM_000558.5(HBA1):c.62_63insT (p.Ala22fs)
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+1G>A rs1201093320
NM_000558.5(HBA1):c.95+9C>T
NM_000558.5(HBA1):c.96-2A>G
NM_000558.5(HBA1):c.98T>A (p.Met33Lys) rs281864566

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