List of variants reported as likely pathogenic for Glycogen storage disease, type VII by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 27

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HGVS	dbSNP	gnomAD frequency
NM_000289.6(PFKM):c.1191+1G>A	rs746348793	0.00001
NM_000289.6(PFKM):c.1413-2A>G	rs1430517061	0.00001
NM_000289.6(PFKM):c.1500+1G>A	rs770066278	0.00001
NM_000289.6(PFKM):c.936+1G>A	rs1949974650	0.00001
NM_000289.6(PFKM):c.1062+1G>A
NM_000289.6(PFKM):c.1062+2T>C	rs2135957798
NM_000289.6(PFKM):c.1127+1G>T	rs2135976459
NM_000289.6(PFKM):c.1128-2A>G
NM_000289.6(PFKM):c.116G>A (p.Arg39Gln)
NM_000289.6(PFKM):c.1192-2A>G
NM_000289.6(PFKM):c.1341+1G>C
NM_000289.6(PFKM):c.1342-1G>C
NM_000289.6(PFKM):c.1412+1G>A
NM_000289.6(PFKM):c.1412+1G>T
NM_000289.6(PFKM):c.1412+2T>C
NM_000289.6(PFKM):c.1501-2del	rs1410122696
NM_000289.6(PFKM):c.159+1G>T	rs1305706304
NM_000289.6(PFKM):c.1653+2T>G
NM_000289.6(PFKM):c.1772A>C (p.Asp591Ala)
NM_000289.6(PFKM):c.1876_1880+2del
NM_000289.6(PFKM):c.1992+1G>T
NM_000289.6(PFKM):c.2047_2092+14del
NM_000289.6(PFKM):c.2092+2T>C
NM_000289.6(PFKM):c.238-3A>G
NM_000289.6(PFKM):c.594-1G>A
NM_000289.6(PFKM):c.638+1G>T
NM_000289.6(PFKM):c.936+2T>G

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