ClinVar Miner

List of variants reported as uncertain significance for Phosphoenolpyruvate carboxykinase deficiency, cytosolic

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Total variants: 53
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HGVS dbSNP gnomAD frequency
NM_002591.4(PCK1):c.*361G>A rs878859807 0.28332
NM_002591.4(PCK1):c.1448G>A (p.Arg483Gln) rs41302559 0.00218
NM_002591.4(PCK1):c.413C>T (p.Thr138Ile) rs28359542 0.00175
NM_002591.4(PCK1):c.141C>T (p.Asp47=) rs45559338 0.00163
NM_002591.4(PCK1):c.1642G>A (p.Ala548Thr) rs148684857 0.00146
NM_002591.4(PCK1):c.925G>A (p.Gly309Arg) rs201186470 0.00113
NM_002591.4(PCK1):c.*363G>A rs1297980275 0.00105
NM_002591.4(PCK1):c.556G>A (p.Asp186Asn) rs11552146 0.00102
NM_002591.4(PCK1):c.7C>T (p.Pro3Ser) rs147120329 0.00091
NM_002591.4(PCK1):c.1152G>A (p.Thr384=) rs141878699 0.00089
NM_002591.4(PCK1):c.64A>G (p.Ser22Gly) rs140235265 0.00043
NM_002591.4(PCK1):c.-40-14G>A rs533125583 0.00029
NM_002591.4(PCK1):c.*365G>A rs886056802 0.00028
NM_002591.4(PCK1):c.954C>T (p.Asp318=) rs147943264 0.00027
NM_002591.4(PCK1):c.*357A>G rs8122025 0.00025
NM_002591.4(PCK1):c.898C>T (p.Leu300Phe) rs61760967 0.00022
NM_002591.4(PCK1):c.414C>A (p.Thr138=) rs143220447 0.00017
NM_002591.4(PCK1):c.577C>T (p.Leu193Phe) rs139125510 0.00015
NM_002591.4(PCK1):c.1211C>T (p.Ser404Leu) rs149472972 0.00011
NM_002591.4(PCK1):c.521C>T (p.Thr174Met) rs199822253 0.00011
NM_002591.4(PCK1):c.858C>T (p.Ser286=) rs150928523 0.00010
NM_002591.4(PCK1):c.102C>T (p.Asn34=) rs200771350 0.00009
NM_002591.4(PCK1):c.538G>A (p.Val180Ile) rs367998997 0.00009
NM_002591.4(PCK1):c.1320T>C (p.Gly440=) rs140553751 0.00008
NM_002591.4(PCK1):c.651G>A (p.Thr217=) rs777897405 0.00006
NM_002591.4(PCK1):c.747G>A (p.Arg249=) rs377356631 0.00005
NM_002591.4(PCK1):c.134T>C (p.Ile45Thr) rs202197769 0.00004
NM_002591.4(PCK1):c.*392T>C rs111775670 0.00003
NM_002591.4(PCK1):c.-64C>T rs886056793 0.00003
NM_002591.4(PCK1):c.1553G>A (p.Arg518Gln) rs768176085 0.00003
NM_002591.4(PCK1):c.903C>T (p.Pro301=) rs779245706 0.00003
NM_002591.4(PCK1):c.*249G>T rs886056796 0.00002
NM_002591.4(PCK1):c.*92C>T rs17847706 0.00002
NM_002591.4(PCK1):c.-3G>A rs780659077 0.00002
NM_002591.4(PCK1):c.1537C>T (p.His513Tyr) rs267606016 0.00002
NM_002591.4(PCK1):c.1644C>G (p.Ala548=) rs183812420 0.00002
NM_002591.4(PCK1):c.955G>A (p.Ala319Thr) rs747438321 0.00002
NM_002591.4(PCK1):c.*528C>G rs886056803 0.00001
NM_002591.4(PCK1):c.407-11G>A rs775923881 0.00001
NM_002591.4(PCK1):c.*202G>A rs886056795
NM_002591.4(PCK1):c.*608A>C rs2070206106
NM_002591.4(PCK1):c.-40-12T>C rs2070139661
NM_002591.4(PCK1):c.-54C>T rs886056794
NM_002591.4(PCK1):c.1207A>G (p.Asn403Asp) rs368426390
NM_002591.4(PCK1):c.1658C>T (p.Thr553Met) rs762446688
NM_002591.4(PCK1):c.1688C>T (p.Ala563Val) rs1256902604
NM_002591.4(PCK1):c.203G>T (p.Arg68Leu) rs147273759
NM_002591.4(PCK1):c.474C>T (p.Ile158=) rs764002893
NM_002591.4(PCK1):c.716C>T (p.Ser239Leu) rs139902878
NM_002591.4(PCK1):c.733T>G (p.Cys245Gly) rs763473369
NM_002591.4(PCK1):c.824del (p.Gly275fs) rs748437548
NM_002591.4(PCK1):c.831G>A (p.Lys277=) rs371044564
NM_002591.4(PCK1):c.904G>A (p.Gly302Arg) rs200817092

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