ClinVar Miner

List of variants reported as likely pathogenic for GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 16

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Total variants: 3
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NM_153747.2(PIGC):c.566T>G (p.Leu189Trp) rs1553259614
NM_153747.2(PIGC):c.61C>T (p.Arg21Ter) rs115209243
NM_153747.2(PIGC):c.635T>C (p.Leu212Pro) rs1553259602

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