List of variants in gene PKLR reported as pathogenic by OMIM

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: 13

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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.1436G>A (p.Arg479His)	rs118204085	0.00004
NM_000298.6(PKLR):c.1151C>T (p.Thr384Met)	rs74315362	0.00001
NM_000298.6(PKLR):c.1269G>A (p.Ala423=)	rs774652817	0.00001
NM_000298.6(PKLR):c.1318G>T (p.Glu440Ter)	rs771145576	0.00001
NC_000001.11:g.155301478C>G	rs2148221101
NM_000298.6(PKLR):c.110G>A (p.Gly37Glu)	rs118204087
NM_000298.6(PKLR):c.1261C>A (p.Gln421Lys)	rs118204084
NM_000298.6(PKLR):c.389C>A (p.Ser130Tyr)	rs118204089
NM_000298.6(PKLR):c.487C>T (p.Arg163Cys)	rs118204083
NM_000298.6(PKLR):c.826del (p.Val276fs)	rs754939638
PKLR, 1-BP DEL

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