List of variants reported as pathogenic for inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation by Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_033419.5(PGAP3):c.*559C>T	rs183208638	0.00300
NM_033419.5(PGAP3):c.320C>T (p.Ser107Leu)	rs202146344	0.00017
NM_033419.5(PGAP3):c.558-10G>A	rs200598755	0.00009
NM_033419.5(PGAP3):c.861G>T (p.Trp287Cys)	rs869312813	0.00001
NM_033419.5(PGAP3):c.402dup (p.Met135fs)	rs869312812
NM_033419.5(PGAP3):c.439dup (p.Leu147fs)	rs869312815
NM_033419.5(PGAP3):c.511T>C (p.Cys171Arg)	rs869312816
NM_033419.5(PGAP3):c.842T>C (p.Leu281Pro)	rs869312817
NM_033419.5(PGAP3):c.845A>G (p.Asp282Gly)	rs869312814

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