List of variants reported as uncertain significance for pyruvate kinase hyperactivity

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Total variants: 7

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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.1614A>T (p.Glu538Asp)	rs201217064	0.00056
NM_000298.6(PKLR):c.1379T>C (p.Val460Ala)	rs149946271	0.00007
NM_000298.6(PKLR):c.1469G>A (p.Arg490Gln)	rs746257586	0.00003
NM_000298.6(PKLR):c.1029G>C (p.Glu343Asp)
NM_000298.6(PKLR):c.1145G>A (p.Arg382Gln)
NM_000298.6(PKLR):c.382G>C (p.Ala128Pro)

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