ClinVar Miner

List of variants in gene PCK1 studied for carbohydrate metabolism disease

Included ClinVar conditions (161):
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Gene type:
ClinVar version:
Total variants: 92
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HGVS dbSNP
NM_002591.4(PCK1):c.*120T>G rs1042531
NM_002591.4(PCK1):c.*202G>A rs886056795
NM_002591.4(PCK1):c.*249G>T rs886056796
NM_002591.4(PCK1):c.*349_*350AT[4] rs201179319
NM_002591.4(PCK1):c.*349_*350AT[6] rs201179319
NM_002591.4(PCK1):c.*357A>G
NM_002591.4(PCK1):c.*357_*360del rs147972610
NM_002591.4(PCK1):c.*357_*362del rs760440639
NM_002591.4(PCK1):c.*358_*359TG[14] rs141075201
NM_002591.4(PCK1):c.*358_*359TG[15] rs141075201
NM_002591.4(PCK1):c.*358_*359TG[16] rs141075201
NM_002591.4(PCK1):c.*358_*359TG[17] rs141075201
NM_002591.4(PCK1):c.*358_*359TG[19] rs141075201
NM_002591.4(PCK1):c.*358_*359TG[20] rs141075201
NM_002591.4(PCK1):c.*358_*359TG[21] rs141075201
NM_002591.4(PCK1):c.*358_*359TG[24] rs141075201
NM_002591.4(PCK1):c.*359G>A rs3211338
NM_002591.4(PCK1):c.*361G>A rs878859807
NM_002591.4(PCK1):c.*363G>A
NM_002591.4(PCK1):c.*365G>A rs886056802
NM_002591.4(PCK1):c.*392T>C
NM_002591.4(PCK1):c.*408T>G
NM_002591.4(PCK1):c.*431T>C rs28359554
NM_002591.4(PCK1):c.*51G>C rs6025630
NM_002591.4(PCK1):c.*528C>G rs886056803
NM_002591.4(PCK1):c.*608A>C
NM_002591.4(PCK1):c.*92C>T rs17847706
NM_002591.4(PCK1):c.-3G>A
NM_002591.4(PCK1):c.-40-12T>C
NM_002591.4(PCK1):c.-40-14G>A
NM_002591.4(PCK1):c.-54C>T rs886056794
NM_002591.4(PCK1):c.-64C>T rs886056793
NM_002591.4(PCK1):c.102C>T (p.Asn34=) rs200771350
NM_002591.4(PCK1):c.1102G>A (p.Val368Ile) rs1804160
NM_002591.4(PCK1):c.1140T>C (p.Gly380=) rs2070756
NM_002591.4(PCK1):c.1152G>A (p.Thr384=) rs141878699
NM_002591.4(PCK1):c.1207A>G (p.Asn403Asp) rs368426390
NM_002591.4(PCK1):c.1211C>T (p.Ser404Leu)
NM_002591.4(PCK1):c.12G>A (p.Gln4=) rs28383584
NM_002591.4(PCK1):c.1320T>C (p.Gly440=)
NM_002591.4(PCK1):c.134T>C (p.Ile45Thr) rs202197769
NM_002591.4(PCK1):c.141C>T (p.Asp47=) rs45559338
NM_002591.4(PCK1):c.1448G>A (p.Arg483Gln) rs41302559
NM_002591.4(PCK1):c.1537C>T (p.His513Tyr) rs267606016
NM_002591.4(PCK1):c.1553G>A (p.Arg518Gln)
NM_002591.4(PCK1):c.1642G>A (p.Ala548Thr) rs148684857
NM_002591.4(PCK1):c.1644C>G (p.Ala548=) rs183812420
NM_002591.4(PCK1):c.1658C>T (p.Thr553Met) rs762446688
NM_002591.4(PCK1):c.1674C>T (p.Ile558=) rs115841045
NM_002591.4(PCK1):c.1688C>T (p.Ala563Val)
NM_002591.4(PCK1):c.1735A>C (p.Ser579Arg) rs34103538
NM_002591.4(PCK1):c.179T>C (p.Met60Thr) rs28383586
NM_002591.4(PCK1):c.203G>T (p.Arg68Leu) rs147273759
NM_002591.4(PCK1):c.228G>T (p.Trp76Cys) rs139008325
NM_002591.4(PCK1):c.282C>T (p.Ile94=) rs6070157
NM_002591.4(PCK1):c.407-11G>A
NM_002591.4(PCK1):c.413C>T (p.Thr138Ile) rs28359542
NM_002591.4(PCK1):c.414C>A (p.Thr138=)
NM_002591.4(PCK1):c.453G>A (p.Ser151=) rs1062600
NM_002591.4(PCK1):c.462A>G (p.Ser154=) rs1042523
NM_002591.4(PCK1):c.474C>T (p.Ile158=)
NM_002591.4(PCK1):c.489A>G (p.Ser163=) rs1062601
NM_002591.4(PCK1):c.521C>T (p.Thr174Met)
NM_002591.4(PCK1):c.538G>A (p.Val180Ile) rs367998997
NM_002591.4(PCK1):c.550G>C (p.Val184Leu) rs707555
NM_002591.4(PCK1):c.556G>A (p.Asp186Asn) rs11552146
NM_002591.4(PCK1):c.577C>T (p.Leu193Phe)
NM_002591.4(PCK1):c.64A>G (p.Ser22Gly)
NM_002591.4(PCK1):c.651G>A (p.Thr217=)
NM_002591.4(PCK1):c.69A>G (p.Leu23=) rs1042521
NM_002591.4(PCK1):c.705C>T (p.Tyr235=) rs28359544
NM_002591.4(PCK1):c.716C>T (p.Ser239Leu)
NM_002591.4(PCK1):c.724G>A (p.Gly242Arg) rs373906233
NM_002591.4(PCK1):c.733T>G (p.Cys245Gly)
NM_002591.4(PCK1):c.747G>A (p.Arg249=)
NM_002591.4(PCK1):c.799A>G (p.Ile267Val) rs8192708
NM_002591.4(PCK1):c.7C>T (p.Pro3Ser) rs147120329
NM_002591.4(PCK1):c.824del (p.Gly275fs) rs748437548
NM_002591.4(PCK1):c.826G>A (p.Glu276Lys) rs11552145
NM_002591.4(PCK1):c.831G>A (p.Lys277=)
NM_002591.4(PCK1):c.843G>A (p.Ala281=) rs28359546
NM_002591.4(PCK1):c.858C>T (p.Ser286=) rs150928523
NM_002591.4(PCK1):c.864C>T (p.Cys288=) rs61760966
NM_002591.4(PCK1):c.873C>T (p.Thr291=) rs28359547
NM_002591.4(PCK1):c.898C>T (p.Leu300Phe) rs61760967
NM_002591.4(PCK1):c.903C>T (p.Pro301=)
NM_002591.4(PCK1):c.904G>A (p.Gly302Arg)
NM_002591.4(PCK1):c.925G>A (p.Gly309Arg) rs201186470
NM_002591.4(PCK1):c.954C>T (p.Asp318=) rs147943264
NM_002591.4(PCK1):c.955G>A (p.Ala319Thr)
NM_002591.4(PCK1):c.961+1G>A
PCK1, 12-BP DEL, NT369

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