ClinVar Miner

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

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Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_000558.5(HBA1):c.95+38C>T rs556086584 0.00182
NM_000558.3(HBA1):c.-77C>G rs866267079 0.00070
NM_000558.5(HBA1):c.250C>T (p.Leu84=) rs754145030 0.00008
NM_000558.5(HBA1):c.95+5G>A rs63750918 0.00008
NM_000558.3(HBA1):c.193G>C (p.Asp65His) rs33984024 0.00004
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.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_000558.4(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.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.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.300+42T>C
NM_000558.5(HBA1):c.301-31_301-24delinsG rs1902166069
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.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

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