ClinVar Miner

List of variants in gene PGK1 studied for carbohydrate metabolism disease

Included ClinVar conditions (305):
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Total variants: 63
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HGVS dbSNP gnomAD frequency
NM_000291.4(PGK1):c.522-24C>T rs2007039 0.26980
NM_000291.4(PGK1):c.171G>A (p.Ser57=) rs78165041 0.00145
NM_000291.4(PGK1):c.909G>C (p.Val303=) rs142525614 0.00089
NM_000291.4(PGK1):c.390G>A (p.Gly130=) rs146350576 0.00085
NM_000291.4(PGK1):c.1048C>T (p.Arg350Trp) rs183087139 0.00076
NM_000291.4(PGK1):c.642-20A>C rs201622343 0.00026
NM_000291.4(PGK1):c.761G>C (p.Gly254Ala) rs148399096 0.00015
NM_000291.4(PGK1):c.937-8C>T rs367749559 0.00010
NM_000291.4(PGK1):c.129T>C (p.Ala43=) rs781822299 0.00008
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.116+8C>T rs369581587 0.00004
NM_000291.4(PGK1):c.892A>G (p.Thr298Ala) rs782119990 0.00003
NM_000291.4(PGK1):c.238C>T (p.Pro80Ser) rs782084984 0.00002
NM_000291.4(PGK1):c.539A>G (p.Asn180Ser) rs781839243 0.00002
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.1114G>A (p.Gly372Ser) rs727504084
NM_000291.4(PGK1):c.1132A>C (p.Thr378Pro) rs137852539
NM_000291.4(PGK1):c.1152C>T (p.Asn384=)
NM_000291.4(PGK1):c.1195A>T (p.Ser399Cys)
NM_000291.4(PGK1):c.140T>A (p.Ile47Asn) rs137852536
NM_000291.4(PGK1):c.150C>G (p.Cys50Trp) rs2149132078
NM_000291.4(PGK1):c.164C>A (p.Ala55Asp) rs2149132087
NM_000291.4(PGK1):c.178C>T (p.Leu60Phe)
NM_000291.4(PGK1):c.263T>C (p.Leu88Pro) rs137852531
NM_000291.4(PGK1):c.278T>C (p.Val93Ala)
NM_000291.4(PGK1):c.338_346del (p.Ala113_Ser115del)
NM_000291.4(PGK1):c.352C>A (p.Leu118Met)
NM_000291.4(PGK1):c.360G>T (p.Glu120Asp) rs2149132255
NM_000291.4(PGK1):c.417+13A>T
NM_000291.4(PGK1):c.418-7T>G
NM_000291.4(PGK1):c.427G>A (p.Glu143Lys)
NM_000291.4(PGK1):c.44A>G (p.Lys15Arg) rs2078257877
NM_000291.4(PGK1):c.461T>C (p.Leu154Pro) rs1557247556
NM_000291.4(PGK1):c.469C>A (p.Leu157Ile)
NM_000291.4(PGK1):c.473G>T (p.Gly158Val) rs137852532
NM_000291.4(PGK1):c.488A>G (p.Asn163Ser)
NM_000291.4(PGK1):c.491A>T (p.Asp164Val) rs137852538
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.571AAG[1] (p.Lys192del) rs431905502
NM_000291.4(PGK1):c.576G>C (p.Lys192Asn)
NM_000291.4(PGK1):c.617G>C (p.Arg206Pro) rs137852529
NM_000291.4(PGK1):c.756+5G>A rs431905503
NM_000291.4(PGK1):c.796_798delinsATG (p.Val266Met) rs431905501
NM_000291.4(PGK1):c.802G>A (p.Asp268Asn) rs137852528
NM_000291.4(PGK1):c.806T>G (p.Leu269Arg)
NM_000291.4(PGK1):c.854A>T (p.Asp285Val) rs137852535
NM_000291.4(PGK1):c.909_910delinsTT (p.Ala304Ser) rs2149136202
NM_000291.4(PGK1):c.937-17dup rs782576397
NM_000291.4(PGK1):c.946T>C (p.Cys316Arg) rs137852533
NM_000291.4(PGK1):c.959G>A (p.Ser320Asn) rs137852537

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