ClinVar Miner

List of variants reported as benign for Pyruvate kinase deficiency of red cells by Illumina Laboratory Services, Illumina

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000298.6(PKLR):c.*1040G>A	rs8847	0.35054
NM_000298.6(PKLR):c.*267C>T	rs932972	0.35051
NM_000298.6(PKLR):c.1705C>A (p.Arg569=)	rs1052176	0.35034
NM_000298.6(PKLR):c.*13T>C	rs1052177

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