ClinVar Miner

List of variants in gene AGL reported as uncertain significance by Eurofins NTD LLC (GA)

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_000642.3(AGL):c.1885G>A (p.Glu629Lys) rs146041189 0.00160
NM_000642.3(AGL):c.1875G>T (p.Thr625=) rs141944878 0.00143
NM_000642.3(AGL):c.3884G>A (p.Arg1295His) rs140481863 0.00017
NM_000642.3(AGL):c.4210G>A (p.Ala1404Thr) rs760699630 0.00009
NM_000642.3(AGL):c.1423+3A>G rs766117687 0.00008
NM_000642.3(AGL):c.2607A>G (p.Gln869=) rs747817359 0.00006
NM_000642.3(AGL):c.4124A>G (p.Tyr1375Cys) rs886042149 0.00003
NM_000642.3(AGL):c.3362+9G>A rs747485058 0.00002
NM_000642.3(AGL):c.1087G>A (p.Gly363Arg) rs755884219 0.00001
NM_000642.3(AGL):c.931G>A (p.Glu311Lys) rs1553184646 0.00001
NM_000642.3(AGL):c.1735+5dup rs766616589
NM_000642.3(AGL):c.4018C>A (p.His1340Asn) rs886042905

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