List of variants reported as pathogenic for disorder of GPI anchor biosynthesis by Illumina Laboratory Services, Illumina

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_004278.4(PIGL):c.500T>C (p.Leu167Pro)	rs145303331	0.00062
NM_017837.4(PIGV):c.1022C>A (p.Ala341Glu)	rs139073416	0.00014
NM_003896.4(ST3GAL5):c.1063G>A (p.Glu355Lys)	rs534438354	0.00013
NM_004278.4(PIGL):c.336-2A>G	rs369230457	0.00007
NM_002641.4(PIGA):c.356G>A (p.Arg119Gln)
NM_003896.4(ST3GAL5):c.337C>T (p.Gln113Ter)

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