ClinVar Miner

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

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Gene type:
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Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_000642.3(AGL):c.894C>T (p.Leu298=) rs2230306 0.76251
NM_000642.3(AGL):c.-10A>G rs2307130 0.41188
NM_000642.3(AGL):c.112A>G (p.Thr38Ala) rs35278779 0.01527
NM_000642.3(AGL):c.1160G>A (p.Arg387Gln) rs17121464 0.01447
NM_000642.3(AGL):c.1481G>A (p.Arg494His) rs141043166 0.00743
NM_000642.3(AGL):c.3203A>G (p.Tyr1068Cys) rs147165298 0.00193
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.39C>T (p.Asn13=) rs138203039 0.00045
NM_000642.3(AGL):c.3884G>A (p.Arg1295His) rs140481863 0.00017
NM_000642.3(AGL):c.256C>T (p.Gln86Ter) rs193186112 0.00014
NM_000642.3(AGL):c.4027G>A (p.Glu1343Lys) rs112795811 0.00014
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.2590C>T (p.Arg864Ter) rs113994130 0.00006
NM_000642.3(AGL):c.2607A>G (p.Gln869=) rs747817359 0.00006
NM_000642.3(AGL):c.3980G>A (p.Trp1327Ter) rs267606640 0.00006
NM_000642.3(AGL):c.4260-12A>G rs369973784 0.00006
NM_000642.3(AGL):c.3965del (p.Val1322fs) rs113994132 0.00004
NM_000642.3(AGL):c.16C>T (p.Gln6Ter) rs113994126 0.00003
NM_000642.3(AGL):c.2681+1G>A rs201201443 0.00003
NM_000642.3(AGL):c.3652C>T (p.Arg1218Ter) rs771853367 0.00003
NM_000642.3(AGL):c.4124A>G (p.Tyr1375Cys) rs886042149 0.00003
NM_000642.3(AGL):c.2039G>A (p.Trp680Ter) rs113994129 0.00002
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.3682C>T (p.Arg1228Ter) rs113994131 0.00001
NM_000642.3(AGL):c.931G>A (p.Glu311Lys) rs1553184646 0.00001
NM_000642.3(AGL):c.1485del (p.Arg494_Tyr495insTer) rs794727051
NM_000642.3(AGL):c.1735+5dup rs766616589
NM_000642.3(AGL):c.18_19del (p.Gln6fs) rs113994127
NM_000642.3(AGL):c.2158-1G>A rs886043990
NM_000642.3(AGL):c.289C>T (p.Gln97Ter) rs1553183220
NM_000642.3(AGL):c.3216_3217del (p.Glu1072fs) rs771069887
NM_000642.3(AGL):c.4018C>A (p.His1340Asn) rs886042905
NM_000642.3(AGL):c.4456del (p.Ser1486fs) rs113994134
NM_000642.3(AGL):c.535_538del (p.Leu179fs) rs794727706

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