ClinVar Miner

List of variants reported as likely pathogenic for Pyruvate kinase deficiency of red cells

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Total variants: 4
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HGVS dbSNP
NM_000298.6(PKLR):c.1067T>G (p.Met356Arg) rs752423472
NM_000298.6(PKLR):c.1456C>T (p.Arg486Trp) rs116100695
NM_000298.6(PKLR):c.1511G>A (p.Arg504His)
NM_000298.6(PKLR):c.391_393del (p.Ile131del) rs886045351

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