List of variants in gene PKLR reported as pathogenic by CeGaT Center for Human Genetics Tuebingen

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: 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.1529G>A (p.Arg510Gln)	rs113403872	0.00052
NM_000298.6(PKLR):c.1079G>A (p.Cys360Tyr)	rs773803500
NM_000298.6(PKLR):c.1484C>T (p.Ala495Val)
NM_000298.6(PKLR):c.799C>T (p.Gln267Ter)	rs764143249

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