ClinVar Miner

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

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Total variants: 11
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HGVS dbSNP
NC_000001.10:g.(?_100381624_100382277del
NC_000001.11:g.(?_99921514)_(99921671_?)del
NC_000001.11:g.(?_99921524)_(99921661_?)del
NM_000642.3(AGL):c.1284-2A>G
NM_000642.3(AGL):c.2158-2A>G rs878959417
NM_000642.3(AGL):c.2309-1G>A rs786204481
NM_000642.3(AGL):c.2309-2A>G
NM_000642.3(AGL):c.293+1del rs777857395
NM_000642.3(AGL):c.294-2A>T rs1057516868
NM_000642.3(AGL):c.3589-3C>G
NM_000642.3(AGL):c.664+2T>C

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