ClinVar Miner

List of variants in gene G6PC3 studied for autosomal recessive severe congenital neutropenia

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 302
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HGVS dbSNP gnomAD frequency
NM_138387.4(G6PC3):c.-129C>T rs228758 0.36841
NM_138387.4(G6PC3):c.381G>A (p.Thr127=) rs3815076 0.12385
NM_138387.4(G6PC3):c.416+5A>G rs73306693 0.01443
NM_138387.4(G6PC3):c.647C>T (p.Thr216Ile) rs34406052 0.01442
NM_138387.4(G6PC3):c.-152T>C rs149756661 0.01300
NM_138387.4(G6PC3):c.*2T>C rs113416399 0.00711
NM_138387.4(G6PC3):c.815A>G (p.Gln272Arg) rs34491309 0.00334
NM_138387.4(G6PC3):c.-194C>T rs28370440 0.00305
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.468G>A (p.Ala156=) rs141663645 0.00061
NM_138387.4(G6PC3):c.1017A>G (p.Glu339=) rs144587192 0.00039
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.1035T>A (p.Ser345=) rs201244794 0.00033
NM_138387.4(G6PC3):c.407G>A (p.Arg136Gln) rs200050824 0.00016
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.726C>T (p.His242=) rs147246080 0.00010
NM_138387.4(G6PC3):c.-178C>A rs767632217 0.00009
NM_138387.4(G6PC3):c.264T>G (p.Gly88=) rs377286452 0.00009
NM_138387.4(G6PC3):c.737G>A (p.Arg246Gln) rs750355531 0.00009
NM_138387.4(G6PC3):c.699G>A (p.Lys233=) rs529935686 0.00008
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.778G>C (p.Gly260Arg) rs200478425 0.00006
NM_138387.4(G6PC3):c.849G>A (p.Lys283=) rs767810900 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.677+9C>T rs770887459 0.00005
NM_138387.4(G6PC3):c.219-4C>A rs1378892385 0.00004
NM_138387.4(G6PC3):c.480G>A (p.Ser160=) rs145419406 0.00004
NM_138387.4(G6PC3):c.484A>G (p.Ile162Val) rs148030756 0.00004
NM_138387.4(G6PC3):c.516G>C (p.Val172=) rs763502623 0.00004
NM_138387.4(G6PC3):c.9C>T (p.Ser3=) rs201749454 0.00004
NM_138387.4(G6PC3):c.10A>G (p.Thr4Ala) rs946155355 0.00003
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.536-10A>T rs866805011 0.00003
NM_138387.4(G6PC3):c.565C>T (p.Arg189Ter) rs745582203 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.765_766del (p.Ala257fs) rs748931188 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.1032C>T (p.His344=) rs774174457 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.536-7C>G rs754683713 0.00002
NM_138387.4(G6PC3):c.537C>T (p.Gly179=) rs758478386 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.829C>T (p.Gln277Ter) rs148559256 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.21G>T (p.Ala7=) rs1322272335 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.399G>A (p.Val133=) rs1191355690 0.00001
NM_138387.4(G6PC3):c.412C>T (p.Arg138Cys) rs762486955 0.00001
NM_138387.4(G6PC3):c.42G>A (p.Ala14=) rs778761991 0.00001
NM_138387.4(G6PC3):c.479C>T (p.Ser160Leu) rs911423195 0.00001
NM_138387.4(G6PC3):c.536-12C>A rs766176177 0.00001
NM_138387.4(G6PC3):c.536-3T>G rs752548565 0.00001
NM_138387.4(G6PC3):c.54G>A (p.Gln18=) rs2049967702 0.00001
NM_138387.4(G6PC3):c.573T>C (p.Pro191=) rs1290235695 0.00001
NM_138387.4(G6PC3):c.580C>T (p.Arg194Trp) rs748638373 0.00001
NM_138387.4(G6PC3):c.591C>T (p.Ser197=) rs766506200 0.00001
NM_138387.4(G6PC3):c.620T>C (p.Met207Thr) rs758281781 0.00001
NM_138387.4(G6PC3):c.642T>C (p.Tyr214=) rs756698645 0.00001
NM_138387.4(G6PC3):c.677+10G>A rs776838775 0.00001
NM_138387.4(G6PC3):c.677+4A>G rs1356008417 0.00001
NM_138387.4(G6PC3):c.678-14C>A rs1418045272 0.00001
NM_138387.4(G6PC3):c.709C>T (p.Arg237Trp) rs763307095 0.00001
NM_138387.4(G6PC3):c.758G>A (p.Arg253His) rs118203968 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.879G>A (p.Leu293=) rs780718603 0.00001
NM_138387.4(G6PC3):c.887C>T (p.Pro296Leu) rs779143230 0.00001
NM_138387.4(G6PC3):c.894C>T (p.Asp298=) rs142944376 0.00001
NM_138387.4(G6PC3):c.926T>G (p.Phe309Cys) rs750695182 0.00001
NM_138387.4(G6PC3):c.981C>T (p.Leu327=) rs752964083 0.00001
NM_138387.4(G6PC3):c.982G>A (p.Val328Met) rs1052762189 0.00001
NC_000017.10:g.(?_42151508)_(42153411_?)del
NC_000017.10:g.(?_42151508)_(42153411_?)dup
NC_000017.10:g.(?_42151521)_42160591dup
NM_138387.4(G6PC3):c.*151G>C rs1046770
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.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.1014G>A (p.Gln338=)
NM_138387.4(G6PC3):c.1023G>A (p.Pro341=)
NM_138387.4(G6PC3):c.12G>A (p.Thr4=)
NM_138387.4(G6PC3):c.12G>C (p.Thr4=)
NM_138387.4(G6PC3):c.16G>T (p.Gly6Cys) rs760709054
NM_138387.4(G6PC3):c.218+486A>G
NM_138387.4(G6PC3):c.219-12G>A
NM_138387.4(G6PC3):c.219-12G>T
NM_138387.4(G6PC3):c.219-18G>T
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.234C>T (p.Asp78=)
NM_138387.4(G6PC3):c.237G>A (p.Arg79=)
NM_138387.4(G6PC3):c.240C>G (p.Pro80=) rs960728758
NM_138387.4(G6PC3):c.246G>A (p.Trp82Ter)
NM_138387.4(G6PC3):c.24C>T (p.Gly8=)
NM_138387.4(G6PC3):c.262G>A (p.Gly88Ser)
NM_138387.4(G6PC3):c.267C>G (p.Tyr89Ter)
NM_138387.4(G6PC3):c.27C>T (p.Ile9=)
NM_138387.4(G6PC3):c.280C>T (p.Pro94Ser)
NM_138387.4(G6PC3):c.285C>A (p.Ala95=)
NM_138387.4(G6PC3):c.304T>G (p.Ser102Ala)
NM_138387.4(G6PC3):c.305C>T (p.Ser102Phe) rs750742016
NM_138387.4(G6PC3):c.30G>A (p.Val10=)
NM_138387.4(G6PC3):c.30G>C (p.Val10=)
NM_138387.4(G6PC3):c.31A>G (p.Ile11Val) rs1597905158
NM_138387.4(G6PC3):c.325+14A>G
NM_138387.4(G6PC3):c.325+14_325+17del
NM_138387.4(G6PC3):c.325+18T>C
NM_138387.4(G6PC3):c.325+20del
NM_138387.4(G6PC3):c.325+2T>G
NM_138387.4(G6PC3):c.325+8G>A
NM_138387.4(G6PC3):c.325G>A (p.Gly109Ser)
NM_138387.4(G6PC3):c.326-19C>T
NM_138387.4(G6PC3):c.326-20G>A
NM_138387.4(G6PC3):c.326-7C>T
NM_138387.4(G6PC3):c.327C>A (p.Gly109=)
NM_138387.4(G6PC3):c.337G>A (p.Gly113Arg) rs2144147052
NM_138387.4(G6PC3):c.345C>T (p.Cys115=)
NM_138387.4(G6PC3):c.346A>G (p.Met116Val) rs267606834
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.376del (p.Ile125_Met126insTer)
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.384C>G (p.Ala128=)
NM_138387.4(G6PC3):c.384C>T (p.Ala128=)
NM_138387.4(G6PC3):c.386T>C (p.Leu129Pro)
NM_138387.4(G6PC3):c.393G>A (p.Ser131=)
NM_138387.4(G6PC3):c.3G>T (p.Met1Ile)
NM_138387.4(G6PC3):c.404C>T (p.Thr135Ile)
NM_138387.4(G6PC3):c.408G>A (p.Arg136=)
NM_138387.4(G6PC3):c.416+11G>A
NM_138387.4(G6PC3):c.416+13C>A
NM_138387.4(G6PC3):c.416+13C>T
NM_138387.4(G6PC3):c.416+14A>G
NM_138387.4(G6PC3):c.416+17G>A
NM_138387.4(G6PC3):c.416+19C>G
NM_138387.4(G6PC3):c.416+1G>A
NM_138387.4(G6PC3):c.416+3A>G rs2050047994
NM_138387.4(G6PC3):c.416+6C>T
NM_138387.4(G6PC3):c.416+8C>G
NM_138387.4(G6PC3):c.416G>T (p.Ser139Ile)
NM_138387.4(G6PC3):c.417-11C>G
NM_138387.4(G6PC3):c.417-11C>T
NM_138387.4(G6PC3):c.417-13C>T
NM_138387.4(G6PC3):c.417-14T>C rs2050055854
NM_138387.4(G6PC3):c.417-15C>G
NM_138387.4(G6PC3):c.417-16C>T
NM_138387.4(G6PC3):c.417-18T>G
NM_138387.4(G6PC3):c.417-19T>G
NM_138387.4(G6PC3):c.417-1G>A
NM_138387.4(G6PC3):c.417-9T>C
NM_138387.4(G6PC3):c.417-9T>G rs759937203
NM_138387.4(G6PC3):c.419G>A (p.Arg140His) rs989437299
NM_138387.4(G6PC3):c.420C>T (p.Arg140=)
NM_138387.4(G6PC3):c.441C>T (p.Ser147=)
NM_138387.4(G6PC3):c.453C>T (p.Cys151=)
NM_138387.4(G6PC3):c.456C>A (p.Thr152=)
NM_138387.4(G6PC3):c.456C>T (p.Thr152=)
NM_138387.4(G6PC3):c.459C>G (p.Phe153Leu)
NM_138387.4(G6PC3):c.45A>G (p.Leu15=) rs2144134939
NM_138387.4(G6PC3):c.464del (p.Leu155fs) rs1295168770
NM_138387.4(G6PC3):c.467C>T (p.Ala156Val)
NM_138387.4(G6PC3):c.468G>T (p.Ala156=) rs141663645
NM_138387.4(G6PC3):c.470T>C (p.Val157Ala)
NM_138387.4(G6PC3):c.481C>T (p.Arg161Ter)
NM_138387.4(G6PC3):c.482G>C (p.Arg161Pro) rs1485073209
NM_138387.4(G6PC3):c.486C>T (p.Ile162=) rs2144149561
NM_138387.4(G6PC3):c.490A>G (p.Ile164Val)
NM_138387.4(G6PC3):c.492C>T (p.Ile164=)
NM_138387.4(G6PC3):c.495A>G (p.Leu165=)
NM_138387.4(G6PC3):c.510C>T (p.His170=) rs2050059834
NM_138387.4(G6PC3):c.528A>G (p.Leu176=)
NM_138387.4(G6PC3):c.529A>G (p.Ile177Val)
NM_138387.4(G6PC3):c.535+14G>A
NM_138387.4(G6PC3):c.535+14G>C rs756398916
NM_138387.4(G6PC3):c.535+18C>T
NM_138387.4(G6PC3):c.535+19G>A
NM_138387.4(G6PC3):c.535+20G>C
NM_138387.4(G6PC3):c.535+8A>G
NM_138387.4(G6PC3):c.536-11C>T
NM_138387.4(G6PC3):c.536-11_536-7del
NM_138387.4(G6PC3):c.536-14C>T
NM_138387.4(G6PC3):c.536-2A>G
NM_138387.4(G6PC3):c.536-4C>G rs2144151616
NM_138387.4(G6PC3):c.536-5C>T
NM_138387.4(G6PC3):c.544C>T (p.Leu182=)
NM_138387.4(G6PC3):c.554T>C (p.Leu185Pro) rs118203969
NM_138387.4(G6PC3):c.555G>A (p.Leu185=)
NM_138387.4(G6PC3):c.55C>T (p.Leu19=)
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.575dup (p.Met192fs)
NM_138387.4(G6PC3):c.583G>A (p.Glu195Lys)
NM_138387.4(G6PC3):c.585G>A (p.Glu195=)
NM_138387.4(G6PC3):c.601T>C (p.Leu201=)
NM_138387.4(G6PC3):c.626G>A (p.Gly209Asp) rs764056109
NM_138387.4(G6PC3):c.626G>C (p.Gly209Ala)
NM_138387.4(G6PC3):c.635del (p.Leu212fs) rs769634275
NM_138387.4(G6PC3):c.636C>T (p.Leu212=) rs1409898506
NM_138387.4(G6PC3):c.643T>C (p.Trp215Arg) rs2144152394
NM_138387.4(G6PC3):c.648C>T (p.Thr216=)
NM_138387.4(G6PC3):c.651C>G (p.Leu217=)
NM_138387.4(G6PC3):c.651C>T (p.Leu217=)
NM_138387.4(G6PC3):c.657A>G (p.Thr219=) rs2050074491
NM_138387.4(G6PC3):c.666G>A (p.Leu222=) rs2050074839
NM_138387.4(G6PC3):c.669T>C (p.Asp223=)
NM_138387.4(G6PC3):c.672T>A (p.Leu224=)
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+1G>A rs778208850
NM_138387.4(G6PC3):c.677+5G>A rs560767207
NM_138387.4(G6PC3):c.677+7C>T rs1045392209
NM_138387.4(G6PC3):c.678-16C>T
NM_138387.4(G6PC3):c.678-6C>T
NM_138387.4(G6PC3):c.678-8C>A rs753515098
NM_138387.4(G6PC3):c.678-8C>T
NM_138387.4(G6PC3):c.684C>A (p.Ile228=)
NM_138387.4(G6PC3):c.684C>T (p.Ile228=)
NM_138387.4(G6PC3):c.688C>T (p.Leu230=)
NM_138387.4(G6PC3):c.710G>C (p.Arg237Pro)
NM_138387.4(G6PC3):c.714T>C (p.Pro238=)
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.732T>C (p.Asp244=) 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.747C>T (p.Ala249=)
NM_138387.4(G6PC3):c.753G>A (p.Leu251=)
NM_138387.4(G6PC3):c.758_781del (p.Arg253_Gly260del) rs777475388
NM_138387.4(G6PC3):c.765A>G (p.Ser255=)
NM_138387.4(G6PC3):c.765del (p.Ala257fs)
NM_138387.4(G6PC3):c.768G>A (p.Gly256=)
NM_138387.4(G6PC3):c.777G>A (p.Leu259=)
NM_138387.4(G6PC3):c.784G>C (p.Gly262Arg) rs118203971
NM_138387.4(G6PC3):c.790G>A (p.Ala264Thr)
NM_138387.4(G6PC3):c.792C>T (p.Ala264=)
NM_138387.4(G6PC3):c.798C>T (p.His266=) rs558164927
NM_138387.4(G6PC3):c.806_808del (p.Cys269del) rs1199375457
NM_138387.4(G6PC3):c.807C>T (p.Cys269=) rs2144155706
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.837A>G (p.Gly279=)
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.855C>T (p.Ala285=)
NM_138387.4(G6PC3):c.861T>A (p.Leu287=)
NM_138387.4(G6PC3):c.861T>C (p.Leu287=)
NM_138387.4(G6PC3):c.865C>T (p.Leu289=)
NM_138387.4(G6PC3):c.867G>A (p.Leu289=)
NM_138387.4(G6PC3):c.870C>A (p.Ala290=)
NM_138387.4(G6PC3):c.877C>T (p.Leu293=)
NM_138387.4(G6PC3):c.886C>T (p.Pro296Ser)
NM_138387.4(G6PC3):c.891G>A (p.Leu297=)
NM_138387.4(G6PC3):c.903C>T (p.Gly301=)
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.909C>A (p.Pro303=)
NM_138387.4(G6PC3):c.909C>G (p.Pro303=)
NM_138387.4(G6PC3):c.910C>T (p.Pro304Ser) rs1314910205
NM_138387.4(G6PC3):c.911dup (p.Gln305fs) rs34019455
NM_138387.4(G6PC3):c.920G>A (p.Ser307Asn)
NM_138387.4(G6PC3):c.922C>T (p.Leu308Phe) rs2050097163
NM_138387.4(G6PC3):c.924C>G (p.Leu308=) rs978510802
NM_138387.4(G6PC3):c.929A>T (p.Tyr310Phe) rs2144156840
NM_138387.4(G6PC3):c.935dup (p.Asn313fs) rs797044567
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.945C>G (p.Leu315=)
NM_138387.4(G6PC3):c.954C>T (p.Thr318=)
NM_138387.4(G6PC3):c.957C>T (p.Leu319=)
NM_138387.4(G6PC3):c.993A>G (p.Ala331=)
NM_138387.4(G6PC3):c.995T>G (p.Val332Gly) rs1013640910

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