ClinVar Miner

List of variants in gene PGK1 reported as uncertain significance for pyruvate metabolism disorder

Included ClinVar conditions (80):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 62
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HGVS dbSNP gnomAD frequency
NM_000291.4(PGK1):c.1048C>T (p.Arg350Trp) rs183087139 0.00076
NM_000291.4(PGK1):c.761G>C (p.Gly254Ala) rs148399096 0.00015
NM_000291.4(PGK1):c.846G>C (p.Leu282Phe) rs782668224 0.00007
NM_000291.4(PGK1):c.1192G>A (p.Ala398Thr) rs199644680 0.00006
NM_000291.4(PGK1):c.1234G>A (p.Asp412Asn) rs782165735 0.00006
NM_000291.4(PGK1):c.1243A>G (p.Ser415Gly) rs929302665 0.00005
NM_000291.4(PGK1):c.248T>C (p.Val83Ala) rs138851144 0.00005
NM_000291.4(PGK1):c.892A>G (p.Thr298Ala) rs782119990 0.00003
NM_000291.4(PGK1):c.929G>A (p.Gly310Asp) rs201238498 0.00002
NM_000291.4(PGK1):c.320C>T (p.Ala107Val) rs1569550806 0.00001
NM_000291.4(PGK1):c.452G>A (p.Arg151Gln) rs1557247552 0.00001
NM_000291.4(PGK1):c.575A>T (p.Lys192Met) rs782204187 0.00001
NM_000291.4(PGK1):c.758T>C (p.Ile253Thr) rs137852534 0.00001
NM_000291.4(PGK1):c.872A>G (p.Lys291Arg) rs1187663822 0.00001
NM_000291.4(PGK1):c.1043T>G (p.Phe348Cys) rs2149137029
NM_000291.4(PGK1):c.1072G>A (p.Glu358Lys) rs1603398740
NM_000291.4(PGK1):c.1133C>T (p.Thr378Ile)
NM_000291.4(PGK1):c.117-5T>G
NM_000291.4(PGK1):c.1195A>T (p.Ser399Cys)
NM_000291.4(PGK1):c.1196G>A (p.Ser399Asn)
NM_000291.4(PGK1):c.11C>T (p.Ser4Phe) rs2078257508
NM_000291.4(PGK1):c.1233G>C (p.Val411=)
NM_000291.4(PGK1):c.146T>A (p.Phe49Tyr)
NM_000291.4(PGK1):c.164C>A (p.Ala55Asp) rs2149132087
NM_000291.4(PGK1):c.178C>T (p.Leu60Phe)
NM_000291.4(PGK1):c.182T>C (p.Met61Thr)
NM_000291.4(PGK1):c.211C>G (p.Pro71Ala)
NM_000291.4(PGK1):c.273-10del
NM_000291.4(PGK1):c.278T>C (p.Val93Ala)
NM_000291.4(PGK1):c.280C>A (p.Leu94Met)
NM_000291.4(PGK1):c.287T>C (p.Leu96Ser)
NM_000291.4(PGK1):c.309A>C (p.Glu103Asp)
NM_000291.4(PGK1):c.338_346del (p.Ala113_Ser115del)
NM_000291.4(PGK1):c.344C>G (p.Ser115Cys)
NM_000291.4(PGK1):c.352C>A (p.Leu118Met)
NM_000291.4(PGK1):c.360G>T (p.Glu120Asp) rs2149132255
NM_000291.4(PGK1):c.406T>C (p.Ser136Pro)
NM_000291.4(PGK1):c.40G>C (p.Val14Leu)
NM_000291.4(PGK1):c.418-7T>G
NM_000291.4(PGK1):c.427G>A (p.Glu143Lys)
NM_000291.4(PGK1):c.441A>G (p.Ile147Met)
NM_000291.4(PGK1):c.442G>C (p.Glu148Gln)
NM_000291.4(PGK1):c.444A>C (p.Glu148Asp)
NM_000291.4(PGK1):c.44A>G (p.Lys15Arg) rs2078257877
NM_000291.4(PGK1):c.469C>A (p.Leu157Ile)
NM_000291.4(PGK1):c.488A>G (p.Asn163Ser)
NM_000291.4(PGK1):c.506C>T (p.Ala169Val)
NM_000291.4(PGK1):c.521+8G>A
NM_000291.4(PGK1):c.522C>T (p.Ser174=)
NM_000291.4(PGK1):c.53G>C (p.Arg18Pro)
NM_000291.4(PGK1):c.545C>T (p.Pro182Leu)
NM_000291.4(PGK1):c.576G>C (p.Lys192Asn)
NM_000291.4(PGK1):c.62T>A (p.Met21Lys)
NM_000291.4(PGK1):c.665A>T (p.Gln222Leu)
NM_000291.4(PGK1):c.79G>A (p.Val27Ile)
NM_000291.4(PGK1):c.806T>G (p.Leu269Arg)
NM_000291.4(PGK1):c.832G>T (p.Val278Leu)
NM_000291.4(PGK1):c.887C>T (p.Ala296Val) rs200543437
NM_000291.4(PGK1):c.909_910delinsTT (p.Ala304Ser) rs2149136202
NM_000291.4(PGK1):c.937-14C>T
NM_000291.4(PGK1):c.96C>A (p.Asn32Lys)
NM_000291.4(PGK1):c.988C>T (p.Arg330Trp)

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