ClinVar Miner

List of variants in gene AGL reported as uncertain significance by Mayo Clinic Laboratories, Mayo Clinic

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Gene type:
ClinVar version:
Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_000642.3(AGL):c.2390A>G (p.Asn797Ser) rs149210307 0.00212
NM_000642.3(AGL):c.1885G>A (p.Glu629Lys) rs146041189 0.00160
NM_000642.3(AGL):c.3764A>G (p.Asn1255Ser) rs138134718 0.00159
NM_000642.3(AGL):c.1810T>G (p.Phe604Val) rs138105395 0.00125
NM_000642.3(AGL):c.3431T>A (p.Ile1144Asn) rs2230308 0.00113
NM_000642.3(AGL):c.4214A>G (p.Glu1405Gly) rs28730708 0.00075
NM_000642.3(AGL):c.334A>G (p.Ile112Val) rs147024351 0.00064
NM_000642.3(AGL):c.1759C>T (p.His587Tyr) rs139488862 0.00053
NM_000642.3(AGL):c.1028G>A (p.Arg343Gln) rs137943515 0.00047
NM_000642.3(AGL):c.2941A>G (p.Ile981Val) rs148981763 0.00039
NM_000642.3(AGL):c.1333A>G (p.Met445Val) rs140375476 0.00031
NM_000642.3(AGL):c.2219A>G (p.His740Arg) rs562215810 0.00025
NM_000642.3(AGL):c.1226T>G (p.Leu409Arg) rs200459772 0.00022
NM_000642.3(AGL):c.3884G>A (p.Arg1295His) rs140481863 0.00017
NM_000642.3(AGL):c.2486A>G (p.Asn829Ser) rs199554089 0.00006
NM_000642.3(AGL):c.4300A>G (p.Asn1434Asp) rs146154694 0.00005
NM_000642.3(AGL):c.1042G>A (p.Val348Ile) rs544658310 0.00003
NM_000642.3(AGL):c.3890T>G (p.Leu1297Trp) rs749445010 0.00003
NM_000642.3(AGL):c.1255G>A (p.Val419Ile) rs1236981513 0.00001
NM_000642.3(AGL):c.1432G>A (p.Val478Ile) rs527819721 0.00001
NM_000642.3(AGL):c.2001+3T>G rs1392738838 0.00001
NM_000642.3(AGL):c.3836+4G>A rs1488570554 0.00001
NM_000642.3(AGL):c.4266G>T (p.Met1422Ile) rs755347576 0.00001
NM_000642.3(AGL):c.3927T>A (p.His1309Gln) rs1200885928
NM_000642.3(AGL):c.3950G>A (p.Gly1317Glu) rs2100859044
NM_000642.3(AGL):c.4075C>T (p.Arg1359Cys)
NM_000642.3(AGL):c.4114T>G (p.Trp1372Gly)
NM_000642.3(AGL):c.4542C>G (p.Ser1514Arg) rs367764339
NM_000642.3(AGL):c.602T>C (p.Val201Ala) rs2101094087
NM_000642.3(AGL):c.710A>G (p.Asn237Ser) rs1553184575
NM_000642.3(AGL):c.959-18delinsATCTTTTCTTTCTTTTAGAAAATAGTGACAGTTTTAATCTCTTTGTAGATATTTGCATTTAAGGTATCA

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