ClinVar Miner

List of variants reported as pathogenic for Glycogen storage disease type III by Natera, Inc.

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Total variants: 14
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HGVS dbSNP
NM_000642.3(AGL):c.1222C>T (p.Arg408Ter) rs113994128
NM_000642.3(AGL):c.1384del (p.Trp461_Val462insTer) rs786204678
NM_000642.3(AGL):c.18_19del (p.Gln6fs) rs113994127
NM_000642.3(AGL):c.22del (p.Arg8fs) rs1215043175
NM_000642.3(AGL):c.2590C>T (p.Arg864Ter) rs113994130
NM_000642.3(AGL):c.3216_3217del (p.Glu1072fs) rs771069887
NM_000642.3(AGL):c.3816_3817del (p.Gly1273fs) rs867341758
NM_000642.3(AGL):c.3911dup (p.Asn1304fs) rs745757264
NM_000642.3(AGL):c.3965del (p.Val1322fs) rs113994132
NM_000642.3(AGL):c.3980G>A (p.Trp1327Ter) rs267606640
NM_000642.3(AGL):c.4456del (p.Ser1486fs) rs113994134
NM_000642.3(AGL):c.4529dup (p.Tyr1510Ter) rs387906244
NM_000642.3(AGL):c.664+3A>G rs370792293
NM_000642.3(AGL):c.853C>T (p.Arg285Ter) rs755747010

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