List of variants reported as likely pathogenic for Glucose-6-phosphate transport defect by Invitae

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Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_001164277.2(SLC37A4):c.1099G>A (p.Ala367Thr)	rs80356492	0.00002
NM_001164277.2(SLC37A4):c.898C>T (p.Arg300Cys)	rs193302880	0.00001
NM_001164277.2(SLC37A4):c.1124+3_1124+6del	rs782612223
NM_001164277.2(SLC37A4):c.163A>C (p.Ser55Arg)	rs193302884
NM_001164277.2(SLC37A4):c.202G>A (p.Gly68Arg)	rs193302885
NM_001164277.2(SLC37A4):c.248G>A (p.Gly83Glu)	rs2134640168
NM_001164277.2(SLC37A4):c.382-1G>T
NM_001164277.2(SLC37A4):c.382-2A>G
NM_001164277.2(SLC37A4):c.703GTG[1] (p.Val236del)	rs121908977
NM_001164277.2(SLC37A4):c.785+2T>G	rs1592111559
NM_001164277.2(SLC37A4):c.786-1G>A	rs1943578039
NM_001164277.2(SLC37A4):c.786-2A>C
NM_001164277.2(SLC37A4):c.786-2A>G	rs2134633880
NM_001164277.2(SLC37A4):c.871+1G>A
NM_001164277.2(SLC37A4):c.872-1G>A
NM_001164277.2(SLC37A4):c.872-8_881del
NM_001164277.2(SLC37A4):c.985+1G>A	rs1943553565
NM_001164277.2(SLC37A4):c.986-1G>A

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