ClinVar Miner

List of variants in gene PKLR reported as pathogenic for carbohydrate metabolism disease

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 15
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NM_000298.6(PKLR):c.1151C>T (p.Thr384Met) rs74315362
NM_000298.6(PKLR):c.1261C>A (p.Gln421Lys) rs118204084
NM_000298.6(PKLR):c.1269G>A (p.Ala423=) rs774652817
NM_000298.6(PKLR):c.1318G>T (p.Glu440Ter) rs771145576
NM_000298.6(PKLR):c.1436G>A (p.Arg479His) rs118204085
NM_000298.6(PKLR):c.1456C>T (p.Arg486Trp) rs116100695
NM_000298.6(PKLR):c.1529G>A (p.Arg510Gln) rs113403872
NM_000298.6(PKLR):c.1594C>T (p.Arg532Trp)
NM_000298.6(PKLR):c.331G>A (p.Gly111Arg) rs918627824
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.721G>T (p.Glu241Ter) rs201953584
PKLR, -83G-C
PKLR, 1-BP DEL, 823G

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