List of variants reported as pathogenic for inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation by 3billion, Medical Genetics

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_004278.4(PIGL):c.500T>C (p.Leu167Pro)	rs145303331	0.00062
NM_015937.6(PIGT):c.1582G>A (p.Val528Met)	rs771157170	0.00006
NM_015937.6(PIGT):c.1342C>T (p.Arg448Trp)	rs527236031	0.00004
NM_176787.5(PIGN):c.284G>A (p.Arg95Gln)	rs374704368	0.00002
NM_001127178.3(PIGG):c.2625dup (p.Asp876fs)	rs1491240980	0.00001
NM_015937.6(PIGT):c.250G>T (p.Glu84Ter)	rs756632799	0.00001
NM_033419.5(PGAP3):c.452dup (p.Trp152fs)	rs2057353122
NM_033419.5(PGAP3):c.557G>C (p.Arg186Thr)	rs2145100763

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