ClinVar Miner

List of variants studied for Pyruvate kinase hyperactivity; Pyruvate kinase deficiency of red cells

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_000298.6(PKLR):c.1516G>A (p.Val506Ile) rs8177988 0.00414
NM_000298.6(PKLR):c.1456C>T (p.Arg486Trp) rs116100695 0.00279
NM_000298.6(PKLR):c.1614A>T (p.Glu538Asp) rs201217064 0.00051
NM_000298.6(PKLR):c.1379T>C (p.Val460Ala) rs149946271 0.00007
NM_000298.6(PKLR):c.721G>T (p.Glu241Ter) rs201953584 0.00002
NM_000298.6(PKLR):c.1269G>A (p.Ala423=) rs774652817 0.00001
NM_000298.6(PKLR):c.1145G>A (p.Arg382Gln)
NM_000298.6(PKLR):c.382G>C (p.Ala128Pro)
NM_000298.6(PKLR):c.391_393del (p.Ile131del) rs886045351
NM_000298.6(PKLR):c.965+1G>A

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