ClinVar Miner

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

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000298.6(PKLR):c.1269G>A (p.Ala423=)	rs774652817	0.00001
NM_000298.6(PKLR):c.391_393del (p.Ile131del)	rs886045351
NM_000298.6(PKLR):c.965+1G>A

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