List of variants in gene PKLR studied for Pyruvate kinase hyperactivity

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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 5

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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.1469G>A (p.Arg490Gln)	rs746257586	0.00003
NM_000298.6(PKLR):c.1178A>G (p.Asn393Ser)	rs776594413	0.00001
NM_000298.6(PKLR):c.1029G>C (p.Glu343Asp)
NM_000298.6(PKLR):c.110G>A (p.Gly37Glu)	rs118204087

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