ClinVar Miner

List of variants in gene PKLR reported as pathogenic for pyruvate kinase hyperactivity

Included ClinVar conditions (2):

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000298.6(PKLR):c.1456C>T (p.Arg486Trp)	rs116100695	0.00270
NM_000298.6(PKLR):c.721G>T (p.Glu241Ter)	rs201953584	0.00002

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