List of variants reported as uncertain significance for Glycogen storage disease, type II by Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard

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Total variants: 30

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HGVS	dbSNP	gnomAD frequency
NM_000152.5(GAA):c.1310G>A (p.Arg437His)	rs150868652	0.00023
NM_000152.5(GAA):c.2395C>T (p.His799Tyr)	rs143347747	0.00019
NM_000152.5(GAA):c.1920T>G (p.Pro640=)	rs144090460	0.00010
NM_000152.5(GAA):c.1265G>A (p.Arg422Gln)	rs2229224	0.00008
NM_000152.5(GAA):c.533G>A (p.Arg178His)	rs762267535	0.00008
NM_000152.5(GAA):c.1048G>A (p.Val350Met)	rs200412003	0.00007
NM_000152.5(GAA):c.1504A>G (p.Met502Val)	rs376067362	0.00007
NM_000152.5(GAA):c.1124G>A (p.Arg375His)	rs142752477	0.00006
NM_000152.5(GAA):c.197G>A (p.Arg66Gln)	rs200202628	0.00006
NM_000152.5(GAA):c.266G>A (p.Arg89His)	rs200586324	0.00006
NM_000152.5(GAA):c.1478C>T (p.Pro493Leu)	rs148842275	0.00004
NM_000152.5(GAA):c.861C>T (p.Pro287=)	rs778580823	0.00004
NM_000152.5(GAA):c.1326+1G>A	rs1205507761	0.00003
NM_000152.5(GAA):c.503G>A (p.Arg168Gln)	rs376685205	0.00003
NM_000152.5(GAA):c.1378G>A (p.Glu460Lys)	rs771213237	0.00002
NM_000152.5(GAA):c.971C>T (p.Pro324Leu)	rs750030887	0.00002
NM_000152.5(GAA):c.1324G>A (p.Val442Met)	rs377559348	0.00001
NM_000152.5(GAA):c.1402A>T (p.Ile468Phe)	rs886043148	0.00001
NM_000152.5(GAA):c.1626C>G (p.Pro542=)	rs947585663	0.00001
NM_000152.5(GAA):c.1771C>T (p.Arg591Trp)	rs770983413	0.00001
NM_000152.5(GAA):c.1958C>A (p.Thr653Asn)	rs763456921	0.00001
NM_000152.5(GAA):c.2284G>A (p.Glu762Lys)	rs760063214	0.00001
NM_000152.5(GAA):c.1375G>A (p.Asp459Asn)	rs535644999
NM_000152.5(GAA):c.1562A>T (p.Glu521Val)	rs1455277014
NM_000152.5(GAA):c.1704C>G (p.His568Gln)	rs776882059
NM_000152.5(GAA):c.1719C>A (p.Asn573Lys)	rs1175728529
NM_000152.5(GAA):c.1832G>A (p.Gly611Asp)	rs1057517105
NM_000152.5(GAA):c.2528T>C (p.Leu843Pro)	rs775524898
NM_000152.5(GAA):c.2815_2816del (p.Val939fs)	rs763359208
NM_000152.5(GAA):c.710C>T (p.Ala237Val)	rs121907944

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