ClinVar Miner

List of variants in gene PKLR reported as uncertain significance for Pyruvate kinase deficiency of red cells

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Total variants: 62
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HGVS dbSNP gnomAD frequency
NM_000298.6(PKLR):c.1269+43T>C rs8177982 0.00718
NM_000298.6(PKLR):c.829G>A (p.Glu277Lys) rs147689373 0.00269
NM_000298.6(PKLR):c.*14C>T rs8177994 0.00166
NM_000298.6(PKLR):c.814C>G (p.Leu272Val) rs147659527 0.00163
NM_000298.6(PKLR):c.1706G>A (p.Arg569Gln) rs61755431 0.00119
NM_000298.6(PKLR):c.507+14C>A rs201156800 0.00046
NM_000298.6(PKLR):c.-26C>T rs200181342 0.00045
NM_000298.6(PKLR):c.92C>T (p.Ala31Val) rs150077703 0.00040
NM_000298.6(PKLR):c.*582G>A rs758139094 0.00036
NM_000298.6(PKLR):c.111G>T (p.Gly37=) rs141341788 0.00034
NM_000298.6(PKLR):c.1552C>T (p.Arg518Cys) rs139002629 0.00030
NM_000298.6(PKLR):c.6G>A (p.Ser2=) rs139697646 0.00026
NM_000298.6(PKLR):c.965+12G>A rs200039500 0.00022
NM_000298.6(PKLR):c.507G>A (p.Gly169=) rs201674983 0.00021
NM_000298.6(PKLR):c.*499G>A rs777573500 0.00019
NM_000298.6(PKLR):c.1468C>T (p.Arg490Trp) rs200133000 0.00013
NM_000298.6(PKLR):c.1117-13C>T rs145132664 0.00012
NM_000298.6(PKLR):c.805G>T (p.Val269Phe) rs200695047 0.00011
NM_000298.6(PKLR):c.121C>T (p.Arg41Trp) rs375189218 0.00010
NM_000298.6(PKLR):c.1365C>T (p.Thr455=) rs146708702 0.00010
NM_000298.6(PKLR):c.727G>A (p.Gly243Ser) rs745797890 0.00010
NM_000298.6(PKLR):c.1379T>C (p.Val460Ala) rs149946271 0.00007
NM_000298.6(PKLR):c.122G>A (p.Arg41Gln) rs374805791 0.00005
NM_000298.6(PKLR):c.731G>A (p.Gly244Asp) rs774192277 0.00005
NM_000298.6(PKLR):c.*342C>T rs879040355 0.00004
NM_000298.6(PKLR):c.*346_*348del rs556763356 0.00004
NM_000298.6(PKLR):c.1250C>T (p.Ala417Val) rs756549612 0.00003
NM_000298.6(PKLR):c.1303C>T (p.Arg435Trp) rs142238268 0.00003
NM_000298.6(PKLR):c.790C>T (p.Leu264=) rs199959447 0.00003
NM_000298.6(PKLR):c.918C>A (p.His306Gln) rs141571402 0.00003
NM_000298.6(PKLR):c.909G>C (p.Pro303=) rs200840994 0.00002
NM_000298.6(PKLR):c.*275C>T rs886045350 0.00001
NM_000298.6(PKLR):c.-31G>A rs778164541 0.00001
NM_000298.6(PKLR):c.1081A>G (p.Asn361Asp) rs765903674 0.00001
NM_000298.6(PKLR):c.1088C>A (p.Ala363Glu) rs763466930 0.00001
NM_000298.6(PKLR):c.1217G>A (p.Gly406Glu) rs779817999 0.00001
NM_000298.6(PKLR):c.1457G>A (p.Arg486Gln) rs768210809 0.00001
NM_000298.6(PKLR):c.*13T>G rs1052177
NM_000298.6(PKLR):c.*14C>G rs8177994
NM_000298.6(PKLR):c.*351T>A rs886045349
NM_000298.6(PKLR):c.*356T>C rs1674470980
NM_000298.6(PKLR):c.*500C>T rs1674463281
NM_000298.6(PKLR):c.1061A>G (p.Lys354Arg) rs2148204121
NM_000298.6(PKLR):c.1117-4C>G rs1572054195
NM_000298.6(PKLR):c.1510C>T (p.Arg504Cys)
NM_000298.6(PKLR):c.1575G>A (p.Trp525Ter) rs2148198897
NM_000298.6(PKLR):c.188C>G (p.Ala63Gly) rs886045353
NM_000298.6(PKLR):c.227T>C (p.Leu76Pro)
NM_000298.6(PKLR):c.284-9T>C rs886045352
NM_000298.6(PKLR):c.376-11C>G rs1647538523
NM_000298.6(PKLR):c.451G>A (p.Val151Met)
NM_000298.6(PKLR):c.491C>A (p.Thr164Asn) rs1220156417
NM_000298.6(PKLR):c.505G>T (p.Gly169Trp) rs199824528
NM_000298.6(PKLR):c.639G>T (p.Val213=) rs750102822
NM_000298.6(PKLR):c.657_677del (p.Asp220_Leu226del)
NM_000298.6(PKLR):c.692T>C (p.Ile231Thr)
NM_000298.6(PKLR):c.694+43C>T
NM_000298.6(PKLR):c.943G>A (p.Glu315Lys) rs1557959063
NM_000298.6(PKLR):c.945G>C (p.Glu315Asp) rs2148204818
NM_000298.6(PKLR):c.966-12C>T rs1188767860
NM_000298.6(PKLR):c.966G>T (p.Arg322Ser) rs763964110
NM_000298.6(PKLR):c.972T>C (p.Asp324=) rs8177974

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