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

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: 4

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HGVS	dbSNP	gnomAD frequency
NM_000298.6(PKLR):c.1178A>G (p.Asn393Ser)	rs776594413	0.00001
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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