List of variants reported as pathogenic for Glycosylphosphatidylinositol biosynthesis defect 18

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_033198.4(PIGS):c.108G>A (p.Trp36Ter)	rs1263517814	0.00001
NM_033198.4(PIGS):c.101T>C (p.Leu34Pro)	rs1567618413
NM_033198.4(PIGS):c.1070G>A (p.Gly357Asp)	rs2070332383
NM_033198.4(PIGS):c.1141_1164dup (p.Asp381_Val388dup)	rs769890071
NM_033198.4(PIGS):c.1316_1352delinsGGTTGCT (p.Thr439_Lys451delinsArgLeuLeu)	rs1567614073
NM_033198.4(PIGS):c.174G>C (p.Gln58His)	rs1243182982
NM_033198.4(PIGS):c.468+1G>C	rs1567616570
NM_033198.4(PIGS):c.662_663del (p.Leu221fs)
NM_033198.4(PIGS):c.734G>A (p.Trp245Ter)	rs1249675321
NM_033198.4(PIGS):c.923A>G (p.Glu308Gly)	rs1426262136
NM_033198.4(PIGS):c.986C>G (p.Pro329Arg)	rs2151511848

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