List of variants reported as pathogenic for glycogen storage disease III by Mendelics

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_000642.2(AGL):c.[1283G>A];[611T>A]
NM_000642.3(AGL):c.2083C>T (p.Gln695Ter)	rs1570445130
NM_000642.3(AGL):c.2433+2T>C	rs2100768436
NM_000642.3(AGL):c.2457_2460del (p.Gln820fs)	rs1553187237
NM_000642.3(AGL):c.2950-1G>C	rs1057516793
NM_000642.3(AGL):c.3492C>G (p.Tyr1164Ter)	rs370202718
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
NM_000642.3(AGL):c.74_75del (p.Leu25fs)	rs2101053661

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