ClinVar Miner

List of variants studied for Glycogen storage disease type III by Mendelics

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Total variants: 11
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HGVS dbSNP
NC_000001.10:g.100330092T>A rs794729208
NM_000642.2(AGL):c.[1283G>A];[611T>A]
NM_000642.3(AGL):c.1734A>T (p.Arg578Ser) rs1570442236
NM_000642.3(AGL):c.1900-13T>A rs533280246
NM_000642.3(AGL):c.2083C>T (p.Gln695Ter) rs1570445130
NM_000642.3(AGL):c.2457_2460del (p.Gln820fs) rs1553187237
NM_000642.3(AGL):c.3492C>G (p.Tyr1164Ter) rs370202718
NM_000642.3(AGL):c.3636G>A (p.Met1212Ile) rs1570487362
NM_000642.3(AGL):c.3637C>T (p.Gln1213Ter) rs1570487381
NM_000642.3(AGL):c.4221del (p.Lys1407fs) rs786204655
NM_000642.3(AGL):c.576T>G (p.Tyr192Ter) rs1571232325

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