List of variants in gene PKLR studied 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
		ClinVar version:

Total variants: 14

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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	0.00270
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.721G>T (p.Glu241Ter)	rs201953584	0.00002
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.1029G>C (p.Glu343Asp)
NM_000298.6(PKLR):c.110G>A (p.Gly37Glu)	rs118204087
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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