List of variants reported as pathogenic for inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation by Mendelics

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_015937.6(PIGT):c.494-2A>G	rs200790673	0.00006
NM_002641.4(PIGA):c.350T>C (p.Phe117Ser)	rs2147723760
NM_176787.5(PIGN):c.1517G>A (p.Trp506Ter)	rs2146506059
NM_176787.5(PIGN):c.283C>T (p.Arg95Trp)	rs558341655
NM_176787.5(PIGN):c.491_492del (p.Glu164fs)	rs748817187

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