ClinVar Miner

List of variants reported as pathogenic for Glycogen storage disease type III by Counsyl

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Total variants: 11
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NM_000642.3(AGL):c.1589C>G (p.Ser530Ter) rs1553185905
NM_000642.3(AGL):c.2681+1G>A rs201201443
NM_000642.3(AGL):c.2681+1G>T rs201201443
NM_000642.3(AGL):c.2717_2721del (p.Gln906fs) rs1553187957
NM_000642.3(AGL):c.2728C>T (p.Arg910Ter) rs773095419
NM_000642.3(AGL):c.276del (p.Gln92fs) rs1057517243
NM_000642.3(AGL):c.3652C>T (p.Arg1218Ter) rs771853367
NM_000642.3(AGL):c.3980G>A (p.Trp1327Ter) rs267606640
NM_000642.3(AGL):c.753_756del (p.Asp251fs) rs748789700
NM_000642.3(AGL):c.853C>T (p.Arg285Ter) rs755747010
NM_000642.3(AGL):c.958+1G>A rs1553184657

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