List of variants reported as pathogenic for inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation by Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_017837.4(PIGV):c.1022C>A (p.Ala341Glu)	rs139073416	0.00014
NM_176787.5(PIGN):c.932T>G (p.Leu311Trp)	rs746882521	0.00005
NM_017837.4(PIGV):c.146C>A (p.Ser49Ter)	rs145160045	0.00003

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