List of variants reported as likely pathogenic for Glycogen storage disease type III by Fulgent Genetics, Fulgent Genetics

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Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_000642.3(AGL):c.4529dup (p.Tyr1510Ter)	rs387906244	0.00003
NM_000642.3(AGL):c.1078C>T (p.His360Tyr)	rs763554006	0.00001
NM_000642.3(AGL):c.22C>T (p.Arg8Ter)	rs1057516870	0.00001
NM_000642.3(AGL):c.2309-2A>G	rs1253347170	0.00001
NM_000642.3(AGL):c.3259+1G>A	rs1394576194	0.00001
NM_000642.3(AGL):c.907C>T (p.Gln303Ter)	rs145362161	0.00001
NM_000642.3(AGL):c.2024_2033del (p.Arg675fs)	rs1652003965
NM_000642.3(AGL):c.2158-2A>G	rs878959417
NM_000642.3(AGL):c.223_224del (p.Glu74_Asp75insTer)	rs767346840
NM_000642.3(AGL):c.2670del (p.Pro891fs)	rs764591009
NM_000642.3(AGL):c.2799T>G (p.Tyr933Ter)	rs767529587
NM_000642.3(AGL):c.293+1del	rs777857395
NM_000642.3(AGL):c.294-2A>T	rs1057516868
NM_000642.3(AGL):c.4221dup (p.Leu1408fs)	rs786204655
NM_000642.3(AGL):c.454G>T (p.Glu152Ter)	rs1650125542
NM_000642.3(AGL):c.460+1G>A	rs930434905
NM_000642.3(AGL):c.861_864del (p.Ile288fs)	rs1571243699

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