ClinVar Miner

List of variants in gene G6PC3 reported as uncertain significance for leukopenia

Included ClinVar conditions (54):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 126
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HGVS dbSNP gnomAD frequency
NM_138387.4(G6PC3):c.*97G>C rs565305947 0.00091
NM_138387.4(G6PC3):c.566G>A (p.Arg189Gln) rs140294222 0.00083
NM_138387.4(G6PC3):c.50A>C (p.Asn17Thr) rs375162061 0.00036
NM_138387.4(G6PC3):c.1006A>C (p.Ser336Arg) rs141431274 0.00035
NM_138387.4(G6PC3):c.800C>G (p.Ser267Cys) rs201700844 0.00014
NM_138387.4(G6PC3):c.-164G>A rs886052985 0.00011
NM_138387.4(G6PC3):c.406C>T (p.Arg136Trp) rs138557340 0.00011
NM_138387.4(G6PC3):c.687C>T (p.Ser229=) rs377343204 0.00011
NM_138387.4(G6PC3):c.407G>A (p.Arg136Gln) rs200050824 0.00010
NM_138387.4(G6PC3):c.-178C>A rs767632217 0.00009
NM_138387.4(G6PC3):c.737G>A (p.Arg246Gln) rs750355531 0.00009
NM_138387.4(G6PC3):c.727G>A (p.Val243Met) rs140785361 0.00008
NM_138387.4(G6PC3):c.668A>C (p.Asp223Ala) rs779584053 0.00006
NM_138387.4(G6PC3):c.883G>T (p.Gly295Cys) rs202238577 0.00006
NM_138387.4(G6PC3):c.-231A>G rs886052983 0.00005
NM_138387.4(G6PC3):c.10A>G (p.Thr4Ala) rs946155355 0.00004
NM_138387.4(G6PC3):c.484A>G (p.Ile162Val) rs148030756 0.00004
NM_138387.4(G6PC3):c.219-13T>C rs773122600 0.00003
NM_138387.4(G6PC3):c.413G>A (p.Arg138His) rs763535974 0.00003
NM_138387.4(G6PC3):c.574A>G (p.Met192Val) rs774843962 0.00003
NM_138387.4(G6PC3):c.581G>A (p.Arg194Gln) rs759401453 0.00003
NM_138387.4(G6PC3):c.710G>A (p.Arg237Gln) rs768565958 0.00003
NM_138387.4(G6PC3):c.938A>G (p.Asn313Ser) rs202163545 0.00003
NM_138387.4(G6PC3):c.-155T>A rs756204705 0.00002
NM_138387.4(G6PC3):c.1001T>C (p.Met334Thr) rs746741551 0.00002
NM_138387.4(G6PC3):c.418C>T (p.Arg140Cys) rs764229993 0.00002
NM_138387.4(G6PC3):c.431T>A (p.Val144Glu) rs561313644 0.00002
NM_138387.4(G6PC3):c.757C>T (p.Arg253Cys) rs765927570 0.00002
NM_138387.4(G6PC3):c.824G>A (p.Arg275Gln) rs765872526 0.00002
NM_138387.4(G6PC3):c.-149G>A rs1567967341 0.00001
NM_138387.4(G6PC3):c.-48G>A rs746461072 0.00001
NM_138387.4(G6PC3):c.1022C>T (p.Pro341Leu) rs762536153 0.00001
NM_138387.4(G6PC3):c.1030C>T (p.His344Tyr) rs1347079621 0.00001
NM_138387.4(G6PC3):c.11C>T (p.Thr4Met) rs750937874 0.00001
NM_138387.4(G6PC3):c.281C>T (p.Pro94Leu) rs1356446581 0.00001
NM_138387.4(G6PC3):c.300C>A (p.Phe100Leu) rs1336165706 0.00001
NM_138387.4(G6PC3):c.380C>T (p.Thr127Met) rs748177654 0.00001
NM_138387.4(G6PC3):c.412C>T (p.Arg138Cys) rs762486955 0.00001
NM_138387.4(G6PC3):c.479C>T (p.Ser160Leu) rs911423195 0.00001
NM_138387.4(G6PC3):c.536-3T>G rs752548565 0.00001
NM_138387.4(G6PC3):c.580C>T (p.Arg194Trp) rs748638373 0.00001
NM_138387.4(G6PC3):c.620T>C (p.Met207Thr) rs758281781 0.00001
NM_138387.4(G6PC3):c.677+4A>G rs1356008417 0.00001
NM_138387.4(G6PC3):c.709C>T (p.Arg237Trp) rs763307095 0.00001
NM_138387.4(G6PC3):c.773C>T (p.Ala258Val) rs1016698344 0.00001
NM_138387.4(G6PC3):c.809A>G (p.Tyr270Cys) rs749505455 0.00001
NM_138387.4(G6PC3):c.821G>A (p.Arg274His) rs773183765 0.00001
NM_138387.4(G6PC3):c.823C>T (p.Arg275Trp) rs200393998 0.00001
NM_138387.4(G6PC3):c.887C>T (p.Pro296Leu) rs779143230 0.00001
NM_138387.4(G6PC3):c.926T>G (p.Phe309Cys) rs750695182 0.00001
NM_138387.4(G6PC3):c.982G>A (p.Val328Met) rs1052762189 0.00001
NC_000017.10:g.(?_42151508)_(42153411_?)dup
NC_000017.10:g.(?_42151521)_42160591dup
NM_138387.4(G6PC3):c.*1CTT[1] rs761219348
NM_138387.4(G6PC3):c.*234C>G rs763555878
NM_138387.4(G6PC3):c.*67G>A rs11544393
NM_138387.4(G6PC3):c.-162G>A rs536609615
NM_138387.4(G6PC3):c.-191T>G rs886052984
NM_138387.4(G6PC3):c.1002G>T (p.Met334Ile)
NM_138387.4(G6PC3):c.1007G>C (p.Ser336Thr)
NM_138387.4(G6PC3):c.1012C>T (p.Gln338Ter) rs889605875
NM_138387.4(G6PC3):c.16G>T (p.Gly6Cys) rs760709054
NM_138387.4(G6PC3):c.218+486A>G
NM_138387.4(G6PC3):c.224T>C (p.Leu75Pro) rs2144145534
NM_138387.4(G6PC3):c.228T>G (p.Phe76Leu) rs2144145566
NM_138387.4(G6PC3):c.262G>A (p.Gly88Ser)
NM_138387.4(G6PC3):c.280C>T (p.Pro94Ser)
NM_138387.4(G6PC3):c.304T>G (p.Ser102Ala)
NM_138387.4(G6PC3):c.305C>T (p.Ser102Phe) rs750742016
NM_138387.4(G6PC3):c.31A>G (p.Ile11Val) rs1597905158
NM_138387.4(G6PC3):c.358G>T (p.Ala120Ser) rs2050044130
NM_138387.4(G6PC3):c.374T>A (p.Ile125Lys) rs2050045175
NM_138387.4(G6PC3):c.376A>G (p.Met126Val) rs1597908497
NM_138387.4(G6PC3):c.377T>C (p.Met126Thr) rs886052986
NM_138387.4(G6PC3):c.37G>C (p.Glu13Gln) rs754034468
NM_138387.4(G6PC3):c.386T>C (p.Leu129Pro)
NM_138387.4(G6PC3):c.404C>T (p.Thr135Ile)
NM_138387.4(G6PC3):c.416+3A>G rs2050047994
NM_138387.4(G6PC3):c.416+6C>T
NM_138387.4(G6PC3):c.416G>T (p.Ser139Ile)
NM_138387.4(G6PC3):c.417-14T>C rs2050055854
NM_138387.4(G6PC3):c.417-9T>G rs759937203
NM_138387.4(G6PC3):c.419G>A (p.Arg140His) rs989437299
NM_138387.4(G6PC3):c.459C>G (p.Phe153Leu)
NM_138387.4(G6PC3):c.467C>T (p.Ala156Val)
NM_138387.4(G6PC3):c.470T>C (p.Val157Ala)
NM_138387.4(G6PC3):c.482G>C (p.Arg161Pro) rs1485073209
NM_138387.4(G6PC3):c.490A>G (p.Ile164Val)
NM_138387.4(G6PC3):c.529A>G (p.Ile177Val)
NM_138387.4(G6PC3):c.552G>A (p.Trp184Ter)
NM_138387.4(G6PC3):c.560C>T (p.Thr187Ile)
NM_138387.4(G6PC3):c.568G>A (p.Val190Met) rs2050072075
NM_138387.4(G6PC3):c.56T>C (p.Leu19Pro) rs2144134978
NM_138387.4(G6PC3):c.575T>C (p.Met192Thr)
NM_138387.4(G6PC3):c.583G>A (p.Glu195Lys)
NM_138387.4(G6PC3):c.626G>A (p.Gly209Asp) rs764056109
NM_138387.4(G6PC3):c.626G>C (p.Gly209Ala)
NM_138387.4(G6PC3):c.643T>C (p.Trp215Arg) rs2144152394
NM_138387.4(G6PC3):c.666G>A (p.Leu222=) rs2050074839
NM_138387.4(G6PC3):c.674C>G (p.Ser225Cys) rs748442084
NM_138387.4(G6PC3):c.674C>T (p.Ser225Phe)
NM_138387.4(G6PC3):c.677+5G>A rs560767207
NM_138387.4(G6PC3):c.677+7C>T rs1045392209
NM_138387.4(G6PC3):c.710G>C (p.Arg237Pro)
NM_138387.4(G6PC3):c.731A>G (p.Asp244Gly) rs2144155135
NM_138387.4(G6PC3):c.732T>A (p.Asp244Glu) rs1597911422
NM_138387.4(G6PC3):c.735C>A (p.Ser245Arg) rs2050088788
NM_138387.4(G6PC3):c.736C>T (p.Arg246Trp) rs1198102696
NM_138387.4(G6PC3):c.740C>G (p.Pro247Arg) rs1158728815
NM_138387.4(G6PC3):c.790G>A (p.Ala264Thr)
NM_138387.4(G6PC3):c.806_808del (p.Cys269del) rs1199375457
NM_138387.4(G6PC3):c.816G>A (p.Gln272=) rs960279172
NM_138387.4(G6PC3):c.820C>T (p.Arg274Cys)
NM_138387.4(G6PC3):c.823C>G (p.Arg275Gly)
NM_138387.4(G6PC3):c.851T>G (p.Ile284Arg) rs2050092912
NM_138387.4(G6PC3):c.854C>A (p.Ala285Asp) rs1335171821
NM_138387.4(G6PC3):c.886C>T (p.Pro296Ser)
NM_138387.4(G6PC3):c.904C>T (p.His302Tyr) rs2050096005
NM_138387.4(G6PC3):c.908C>A (p.Pro303His) rs776556492
NM_138387.4(G6PC3):c.910C>T (p.Pro304Ser) rs1314910205
NM_138387.4(G6PC3):c.920G>A (p.Ser307Asn)
NM_138387.4(G6PC3):c.922C>T (p.Leu308Phe) rs2050097163
NM_138387.4(G6PC3):c.929A>T (p.Tyr310Phe) rs2144156840
NM_138387.4(G6PC3):c.937A>T (p.Asn313Tyr) rs2144156932
NM_138387.4(G6PC3):c.940T>C (p.Phe314Leu) rs1212393526
NM_138387.4(G6PC3):c.995T>G (p.Val332Gly) rs1013640910

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