ClinVar Miner

List of variants reported as pathogenic for Polyagglutinable erythrocyte syndrome by OMIM

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Total variants: 5
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NM_001011551.3(C1GALT1C1):c.202C>T (p.Arg68Ter) rs137853598
NM_001011551.3(C1GALT1C1):c.393T>A (p.Asp131Glu) rs17261572
NM_001011551.3(C1GALT1C1):c.3G>C (p.Met1Ile) rs587776928
NM_001011551.3(C1GALT1C1):c.454G>A (p.Glu152Lys) rs137853599
NM_001011551.3(C1GALT1C1):c.577T>C (p.Ser193Pro) rs397514537

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