ClinVar Miner

List of variants in gene combination HBA1, LOC106804613 reported by Quest Diagnostics Nichols Institute San Juan Capistrano

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Total variants: 65
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HGVS dbSNP gnomAD frequency
NM_000558.5(HBA1):c.-24C>G rs374054030 0.04854
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_000558.3(HBA1):c.-77C>G rs866267079 0.00070
NM_000558.5(HBA1):c.95+41G>T rs545248706 0.00032
NM_000558.5(HBA1):c.301-17C>A rs571422135 0.00025
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.250C>T (p.Leu84=) rs754145030 0.00008
NM_000558.5(HBA1):c.95+5G>A rs63750918 0.00008
NM_000558.5(HBA1):c.207C>G (p.Asn69Lys) rs1060339 0.00007
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.353_355dup (p.Phe118_Thr119insIle) rs756774032 0.00003
NM_000558.5(HBA1):c.364G>A (p.Val122Met) rs63751008 0.00003
NM_000558.5(HBA1):c.332C>T (p.Ala111Val) rs63749948 0.00002
NM_000558.3(HBA1):c.341T>A (p.Leu114His) rs35654345 0.00001
NM_000558.5(HBA1):c.178G>A (p.Gly60Ser) rs281864895 0.00001
NM_000558.5(HBA1):c.301-19G>A rs765563255 0.00001
NM_000558.5(HBA1):c.337C>G (p.His113Asp) rs34830032 0.00001
NM_000558.5(HBA1):c.55G>A (p.Gly19Ser) rs34504387 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.*116del rs1567165451
NM_000558.3(HBA1):c.-80C>A rs1555449548
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.226G>T (p.Asp76Tyr) rs33977363
NM_000558.3(HBA1):c.256G>A (p.Asp86Asn) rs33915947
NM_000558.3(HBA1):c.283G>C (p.Asp95His) rs34102339
NM_000558.3(HBA1):c.287C>G (p.Pro96Arg) rs33931314
NM_000558.3(HBA1):c.344C>G (p.Pro115Arg) rs33910377
NM_000558.3(HBA1):c.49A>G (p.Lys17Glu) rs41407250
NM_000558.4(HBA1):c.-52C>T rs1276035978
NM_000558.5(HBA1):c.*45C>G rs1210172747
NM_000558.5(HBA1):c.104T>G (p.Leu35Arg) rs35203445
NM_000558.5(HBA1):c.146T>C (p.Leu49Pro) rs281864480
NM_000558.5(HBA1):c.163C>G (p.Gln55Glu) rs35317336
NM_000558.5(HBA1):c.178G>C (p.Gly60Arg) rs281864895
NM_000558.5(HBA1):c.17C>A (p.Ala6Asp) rs34090856
NM_000558.5(HBA1):c.181A>C (p.Lys61Gln)
NM_000558.5(HBA1):c.181AAG[1] (p.Lys62del) rs34353199
NM_000558.5(HBA1):c.187del (p.Val63fs) rs1377412693
NM_000558.5(HBA1):c.205A>G (p.Asn69Asp) rs34823698
NM_000558.5(HBA1):c.223G>A (p.Asp75Asn) rs28928875
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.264C>G (p.His88Gln)
NM_000558.5(HBA1):c.300+42T>C
NM_000558.5(HBA1):c.301-31_301-24delinsG rs1902166069
NM_000558.5(HBA1):c.335C>T (p.Ala112Val) rs1596574253
NM_000558.5(HBA1):c.337_351dup (p.His113_Glu117dup) rs1902168590
NM_000558.5(HBA1):c.362C>A (p.Ala121Glu) rs63749927
NM_000558.5(HBA1):c.365T>A (p.Val122Glu) rs775764044
NM_000558.5(HBA1):c.413C>T (p.Thr138Ile) rs1596574446
NM_000558.5(HBA1):c.43T>C (p.Trp15Arg) rs33964317
NM_000558.5(HBA1):c.47G>A (p.Gly16Asp) rs281865560
NM_000558.5(HBA1):c.69C>T (p.Gly23=)
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.94_95del (p.Arg32fs) rs1596573477
NM_000558.5(HBA1):c.95+1G>A rs1201093320

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