ClinVar Miner

List of variants in gene AGL reported as likely pathogenic by Myriad Genetics, Inc.

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 73
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HGVS dbSNP gnomAD frequency
NM_000642.3(AGL):c.16C>T (p.Gln6Ter) rs113994126 0.00003
NM_000642.3(AGL):c.1038T>A (p.Cys346Ter) rs1651358664
NM_000642.3(AGL):c.1091del (p.Pro364fs)
NM_000642.3(AGL):c.1110C>A (p.Cys370Ter) rs1651407980
NM_000642.3(AGL):c.1115del (p.Asn372fs)
NM_000642.3(AGL):c.1417G>T (p.Glu473Ter) rs1651556356
NM_000642.3(AGL):c.1427C>A (p.Ser476Ter)
NM_000642.3(AGL):c.1444A>T (p.Arg482Ter)
NM_000642.3(AGL):c.1494del (p.Lys498fs)
NM_000642.3(AGL):c.1536C>A (p.Tyr512Ter)
NM_000642.3(AGL):c.1640_1641insGCTGG (p.Pro548fs)
NM_000642.3(AGL):c.1649T>G (p.Leu550Ter) rs1651872905
NM_000642.3(AGL):c.1727T>A (p.Leu576Ter)
NM_000642.3(AGL):c.1727T>G (p.Leu576Ter) rs1651881949
NM_000642.3(AGL):c.1858dup (p.Leu620fs)
NM_000642.3(AGL):c.1890T>A (p.Cys630Ter) rs1651951474
NM_000642.3(AGL):c.18_19del (p.Gln6fs) rs113994127
NM_000642.3(AGL):c.1907C>G (p.Ser636Ter)
NM_000642.3(AGL):c.2011del (p.Val671fs)
NM_000642.3(AGL):c.2062_2065del (p.Asn688fs)
NM_000642.3(AGL):c.2109T>A (p.Cys703Ter)
NM_000642.3(AGL):c.2123_2124insA (p.His709fs)
NM_000642.3(AGL):c.2196_2197delinsGTAT (p.Thr733fs)
NM_000642.3(AGL):c.2277C>A (p.Tyr759Ter)
NM_000642.3(AGL):c.2465del (p.Gly822fs)
NM_000642.3(AGL):c.2480_2481insA (p.Pro828fs)
NM_000642.3(AGL):c.2516dup (p.Asn839fs)
NM_000642.3(AGL):c.2530dup (p.Ser844fs)
NM_000642.3(AGL):c.2569C>T (p.Gln857Ter) rs1652306026
NM_000642.3(AGL):c.2623A>T (p.Lys875Ter)
NM_000642.3(AGL):c.2685_2686del (p.Ala896fs)
NM_000642.3(AGL):c.2692A>T (p.Arg898Ter)
NM_000642.3(AGL):c.2702T>A (p.Leu901Ter)
NM_000642.3(AGL):c.2724_2725del (p.Tyr909fs)
NM_000642.3(AGL):c.2738C>A (p.Ser913Ter) rs1652583223
NM_000642.3(AGL):c.2740G>T (p.Glu914Ter)
NM_000642.3(AGL):c.2783G>A (p.Trp928Ter)
NM_000642.3(AGL):c.2894G>A (p.Trp965Ter) rs1652877420
NM_000642.3(AGL):c.294-2A>T rs1057516868
NM_000642.3(AGL):c.3090_3091del (p.Gln1031fs)
NM_000642.3(AGL):c.3100_3101del (p.Ser1034fs)
NM_000642.3(AGL):c.3178del (p.Ser1060fs)
NM_000642.3(AGL):c.3221_3222del (p.Thr1074fs)
NM_000642.3(AGL):c.3223A>T (p.Lys1075Ter)
NM_000642.3(AGL):c.337_338del (p.Leu113fs)
NM_000642.3(AGL):c.338T>A (p.Leu113Ter)
NM_000642.3(AGL):c.3450T>A (p.Cys1150Ter)
NM_000642.3(AGL):c.3480T>A (p.Cys1160Ter) rs763652784
NM_000642.3(AGL):c.3498_3499del (p.Lys1166fs)
NM_000642.3(AGL):c.3604G>T (p.Glu1202Ter)
NM_000642.3(AGL):c.3718G>T (p.Gly1240Ter) rs1654687449
NM_000642.3(AGL):c.3771del (p.Thr1258fs)
NM_000642.3(AGL):c.3790G>T (p.Gly1264Ter)
NM_000642.3(AGL):c.3793G>T (p.Glu1265Ter) rs1654695322
NM_000642.3(AGL):c.3835A>T (p.Arg1279Ter) rs1654701324
NM_000642.3(AGL):c.3895G>T (p.Glu1299Ter) rs1654817532
NM_000642.3(AGL):c.3899T>G (p.Leu1300Ter) rs1654818141
NM_000642.3(AGL):c.408T>A (p.Cys136Ter)
NM_000642.3(AGL):c.4099G>T (p.Gly1367Ter)
NM_000642.3(AGL):c.4204G>T (p.Glu1402Ter)
NM_000642.3(AGL):c.4243A>T (p.Lys1415Ter)
NM_000642.3(AGL):c.4275T>A (p.Cys1425Ter) rs1655117886
NM_000642.3(AGL):c.4295T>A (p.Leu1432Ter)
NM_000642.3(AGL):c.454G>T (p.Glu152Ter) rs1650125542
NM_000642.3(AGL):c.458C>A (p.Ser153Ter) rs1650126015
NM_000642.3(AGL):c.516C>A (p.Cys172Ter) rs1650330685
NM_000642.3(AGL):c.615_616insTTCCT (p.Lys206fs)
NM_000642.3(AGL):c.623G>A (p.Trp208Ter)
NM_000642.3(AGL):c.667del (p.Ala223fs)
NM_000642.3(AGL):c.680G>A (p.Trp227Ter) rs145929061
NM_000642.3(AGL):c.681G>A (p.Trp227Ter) rs753914653
NM_000642.3(AGL):c.867G>A (p.Trp289Ter) rs1650926061
NM_000642.3(AGL):c.991C>T (p.Gln331Ter) rs1651353836

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