List of variants reported as uncertain significance for Glycogen storage disease, type VII by Illumina Laboratory Services, Illumina

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 32

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HGVS	dbSNP	gnomAD frequency
NM_000289.6(PFKM):c.*411G>A	rs79507126	0.00345
NM_000289.5(PFKM):c.-177G>C	rs78512814	0.00162
NM_000289.6(PFKM):c.453G>A (p.Thr151=)	rs144370737	0.00071
NM_000289.6(PFKM):c.*622G>A	rs568063197	0.00043
NM_000289.5(PFKM):c.-174G>A	rs765876195	0.00031
NM_000289.6(PFKM):c.*452T>C	rs563335260	0.00022
NM_000289.6(PFKM):c.2201A>G (p.His734Arg)	rs141570669	0.00022
NM_000289.6(PFKM):c.820A>G (p.Ile274Val)	rs142868881	0.00021
NM_000289.6(PFKM):c.*3C>T	rs367783282	0.00011
NM_000289.6(PFKM):c.2121G>A (p.Ser707=)	rs370046842	0.00011
NM_000289.6(PFKM):c.638+15C>A	rs376150217	0.00011
NM_000289.6(PFKM):c.-17G>C	rs952485517	0.00010
NM_000289.6(PFKM):c.722A>G (p.Glu241Gly)	rs148544344	0.00005
NM_000289.6(PFKM):c.59T>C (p.Val20Ala)	rs755992543	0.00004
NM_000289.6(PFKM):c.*668G>T	rs535423254	0.00003
NM_000289.6(PFKM):c.1946A>G (p.Lys649Arg)	rs199528011	0.00002
NM_000289.6(PFKM):c.514A>G (p.Thr172Ala)	rs139800248	0.00002
NM_000289.6(PFKM):c.*532A>G	rs927525907	0.00001
NM_000289.6(PFKM):c.1033C>T (p.Arg345Cys)	rs762357629	0.00001
NM_000289.6(PFKM):c.1242C>G (p.Gly414=)	rs886049454	0.00001
NM_000289.6(PFKM):c.864A>G (p.Gly288=)	rs1313998695	0.00001
NM_000289.6(PFKM):c.965T>C (p.Met322Thr)	rs1225653591	0.00001
NM_000289.5(PFKM):c.-176C>T	rs886049451
NM_000289.5(PFKM):c.-64C>T	rs886049452
NM_000289.6(PFKM):c.*134G>A	rs886049456
NM_000289.6(PFKM):c.*489T>A	rs886049457
NM_000289.6(PFKM):c.*503G>T	rs747797192
NM_000289.6(PFKM):c.*564G>A	rs1951034681
NM_000289.6(PFKM):c.*98G>A	rs886049455
NM_000289.6(PFKM):c.1063-7C>T	rs776228408
NM_000289.6(PFKM):c.1648T>C (p.Cys550Arg)	rs1950621584
NM_000289.6(PFKM):c.360C>T (p.Gly120=)	rs886049453

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