ClinVar Miner

List of variants studied for autosomal recessive severe congenital neutropenia

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 178
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HGVS dbSNP
G6PC3, 1-BP DUP, 935T
HAX1, 1-BP DEL, 91G
HAX1, 1-BP INS, 431G
HAX1, 59-BP DEL, NT376
NC_000001.10:g.(?_36931677)_(36937267_?)dup
NC_000003.11:g.(?_9932387)_(9935081_?)dup
NM_001018837.2(HAX1):c.54-107del rs764082747
NM_001018837.2(HAX1):c.54-25dup
NM_001018837.2(HAX1):c.54-68_54-67insA
NM_001018837.2(HAX1):c.54-73dup
NM_001018837.2(HAX1):c.54-81_54-76dup rs781468690
NM_006118.3(HAX1):c.105_110dup (p.Glu39_Glu40dup)
NM_006118.3(HAX1):c.11T>C (p.Phe4Ser)
NM_006118.3(HAX1):c.122G>T (p.Gly41Val)
NM_006118.3(HAX1):c.14A>C (p.Asp5Ala) rs747374340
NM_006118.3(HAX1):c.160C>G (p.Pro54Ala)
NM_006118.3(HAX1):c.207A>T (p.Pro69=) rs142150013
NM_006118.3(HAX1):c.256C>T (p.Arg86Ter) rs121908165
NM_006118.3(HAX1):c.317-2A>G
NM_006118.3(HAX1):c.339G>C (p.Glu113Asp)
NM_006118.3(HAX1):c.376C>T (p.Arg126Trp)
NM_006118.3(HAX1):c.383C>G (p.Ser128Ter) rs1398108109
NM_006118.3(HAX1):c.407del (p.His136fs)
NM_006118.3(HAX1):c.428G>C (p.Gly143Ala)
NM_006118.3(HAX1):c.430dup (p.Val144fs) rs770288337
NM_006118.3(HAX1):c.46C>T (p.Pro16Ser)
NM_006118.3(HAX1):c.514G>A (p.Val172Ile) rs141970914
NM_006118.3(HAX1):c.568C>T (p.Gln190Ter) rs74315322
NM_006118.3(HAX1):c.679C>T (p.Arg227Trp)
NM_006118.3(HAX1):c.724C>T (p.Arg242Ter) rs760377093
NM_006118.3(HAX1):c.829C>T (p.Arg277Trp) rs138296453
NM_006118.3(HAX1):c.96_98TGA[2] (p.Asp34del) rs560912060
NM_007259.5(VPS45):c.1032A>G (p.Glu344=) rs74127419
NM_007259.5(VPS45):c.1174G>A (p.Ala392Thr)
NM_007259.5(VPS45):c.1190G>A (p.Arg397Gln)
NM_007259.5(VPS45):c.126G>A (p.Ser42=) rs148944527
NM_007259.5(VPS45):c.1294A>C (p.Lys432Gln)
NM_007259.5(VPS45):c.1371+5A>G
NM_007259.5(VPS45):c.1418C>A (p.Thr473Asn) rs1553802469
NM_007259.5(VPS45):c.1442G>A (p.Arg481Lys) rs151292369
NM_007259.5(VPS45):c.1494-7A>G rs1435795274
NM_007259.5(VPS45):c.1535A>G (p.Tyr512Cys) rs782797599
NM_007259.5(VPS45):c.1538A>G (p.Glu513Gly)
NM_007259.5(VPS45):c.1626-4T>G
NM_007259.5(VPS45):c.1664G>A (p.Arg555Gln)
NM_007259.5(VPS45):c.167A>G (p.Asp56Gly)
NM_007259.5(VPS45):c.170C>A (p.Ser57Tyr)
NM_007259.5(VPS45):c.192A>T (p.Lys64Asn)
NM_007259.5(VPS45):c.246T>G (p.Ile82Met) rs62622370
NM_007259.5(VPS45):c.290-10T>C rs192850081
NM_007259.5(VPS45):c.299A>G (p.Asn100Ser) rs139341274
NM_007259.5(VPS45):c.318C>T (p.Asp106=) rs150076399
NM_007259.5(VPS45):c.319G>A (p.Val107Met)
NM_007259.5(VPS45):c.514T>C (p.Cys172Arg) rs191692092
NM_007259.5(VPS45):c.566A>G (p.Glu189Gly) rs144659538
NM_007259.5(VPS45):c.570C>T (p.Cys190=) rs114087868
NM_007259.5(VPS45):c.571G>A (p.Val191Ile)
NM_007259.5(VPS45):c.596A>C (p.Tyr199Ser)
NM_007259.5(VPS45):c.614G>A (p.Arg205His) rs146660821
NM_007259.5(VPS45):c.671C>A (p.Thr224Asn) rs879255237
NM_007259.5(VPS45):c.712G>A (p.Glu238Lys) rs782269909
NM_007259.5(VPS45):c.718C>G (p.Leu240Val) rs587716374
NM_007259.5(VPS45):c.785T>C (p.Val262Ala)
NM_032492.4(JAGN1):c.11G>C (p.Arg4Pro)
NM_032492.4(JAGN1):c.130C>T (p.His44Tyr) rs587777728
NM_032492.4(JAGN1):c.172G>A (p.Gly58Arg) rs919986813
NM_032492.4(JAGN1):c.211C>A (p.Pro71Thr) rs200023062
NM_032492.4(JAGN1):c.21G>C (p.Pro7=) rs138937423
NM_032492.4(JAGN1):c.244A>G (p.Ile82Val) rs35365817
NM_032492.4(JAGN1):c.270C>T (p.Leu90=) rs143617732
NM_032492.4(JAGN1):c.35C>T (p.Thr12Ile) rs150797085
NM_032492.4(JAGN1):c.35_43del (p.Thr12_Gly14del) rs587777731
NM_032492.4(JAGN1):c.3G>A (p.Met1Ile) rs587777727
NM_032492.4(JAGN1):c.403G>A (p.Ala135Thr) rs61746084
NM_032492.4(JAGN1):c.41G>A (p.Gly14Asp)
NM_032492.4(JAGN1):c.433G>A (p.Val145Ile)
NM_032492.4(JAGN1):c.46G>T (p.Asp16Tyr)
NM_032492.4(JAGN1):c.485A>G (p.Gln162Arg) rs587777730
NM_032492.4(JAGN1):c.498C>T (p.Ser166=) rs61738795
NM_032492.4(JAGN1):c.541A>C (p.Lys181Gln) rs754191323
NM_032492.4(JAGN1):c.63G>T (p.Glu21Asp) rs587777729
NM_032492.4(JAGN1):c.71C>T (p.Ala24Val)
NM_138387.3(G6PC3):c.1006A>C (p.Ser336Arg)
NM_138387.3(G6PC3):c.10A>G (p.Thr4Ala)
NM_138387.3(G6PC3):c.130C>T (p.Pro44Ser) rs775224457
NM_138387.3(G6PC3):c.141C>G (p.Tyr47Ter) rs118203970
NM_138387.3(G6PC3):c.144C>G (p.Tyr48Ter) rs1194477276
NM_138387.3(G6PC3):c.201C>T (p.Leu67=) rs375273894
NM_138387.3(G6PC3):c.210del (p.Phe71fs) rs769441127
NM_138387.3(G6PC3):c.31A>G (p.Ile11Val)
NM_138387.3(G6PC3):c.346A>G (p.Met116Val) rs267606834
NM_138387.3(G6PC3):c.376A>G (p.Met126Val)
NM_138387.3(G6PC3):c.406C>T (p.Arg136Trp) rs138557340
NM_138387.3(G6PC3):c.407G>A (p.Arg136Gln) rs200050824
NM_138387.3(G6PC3):c.416+5A>G rs73306693
NM_138387.3(G6PC3):c.419G>A (p.Arg140His) rs989437299
NM_138387.3(G6PC3):c.479C>T (p.Ser160Leu)
NM_138387.3(G6PC3):c.50A>C (p.Asn17Thr)
NM_138387.3(G6PC3):c.554T>C (p.Leu185Pro) rs118203969
NM_138387.3(G6PC3):c.565C>T (p.Arg189Ter)
NM_138387.3(G6PC3):c.566G>A (p.Arg189Gln) rs140294222
NM_138387.3(G6PC3):c.574A>G (p.Met192Val)
NM_138387.3(G6PC3):c.580C>T (p.Arg194Trp)
NM_138387.3(G6PC3):c.647C>T (p.Thr216Ile) rs34406052
NM_138387.3(G6PC3):c.674C>G (p.Ser225Cys)
NM_138387.3(G6PC3):c.677+7C>T rs1045392209
NM_138387.3(G6PC3):c.709C>T (p.Arg237Trp)
NM_138387.3(G6PC3):c.727G>A (p.Val243Met) rs140785361
NM_138387.3(G6PC3):c.758G>A (p.Arg253His) rs118203968
NM_138387.3(G6PC3):c.778G>C (p.Gly260Arg) rs200478425
NM_138387.3(G6PC3):c.784G>C (p.Gly262Arg) rs118203971
NM_138387.3(G6PC3):c.800C>G (p.Ser267Cys)
NM_138387.3(G6PC3):c.815A>G (p.Gln272Arg) rs34491309
NM_138387.3(G6PC3):c.821G>A (p.Arg274His)
NM_138387.3(G6PC3):c.829C>T (p.Gln277Ter) rs148559256
NM_138387.3(G6PC3):c.879G>A (p.Leu293=) rs780718603
NM_138387.3(G6PC3):c.883G>T (p.Gly295Cys)
NM_138387.3(G6PC3):c.935dup (p.Asn313fs) rs797044567
NM_138387.3(G6PC3):c.938A>G (p.Asn313Ser)
NM_138387.3(G6PC3):c.982G>A (p.Val328Met)
NM_156039.3(CSF3R):c.101C>T (p.Pro34Leu)
NM_156039.3(CSF3R):c.1027C>T (p.Arg343Trp) rs752325760
NM_156039.3(CSF3R):c.1037A>G (p.Gln346Arg) rs3917974
NM_156039.3(CSF3R):c.103A>G (p.Ile35Val) rs755370892
NM_156039.3(CSF3R):c.105C>A (p.Ile35=) rs3917954
NM_156039.3(CSF3R):c.1072-10T>C rs1557592278
NM_156039.3(CSF3R):c.1115T>A (p.Val372Glu)
NM_156039.3(CSF3R):c.1213G>A (p.Glu405Lys) rs3918019
NM_156039.3(CSF3R):c.1216dup (p.Val406fs) rs890101650
NM_156039.3(CSF3R):c.1245del (p.Thr416fs) rs606231474
NM_156039.3(CSF3R):c.1253_1254inv (p.Arg418His)
NM_156039.3(CSF3R):c.1286-3C>T rs778391319
NM_156039.3(CSF3R):c.1358A>G (p.Asn453Ser)
NM_156039.3(CSF3R):c.1399C>T (p.Pro467Ser)
NM_156039.3(CSF3R):c.1410G>A (p.Ala470=) rs3917988
NM_156039.3(CSF3R):c.1458G>A (p.Thr486=) rs138289951
NM_156039.3(CSF3R):c.1510G>A (p.Val504Met)
NM_156039.3(CSF3R):c.1528G>C (p.Asp510His) rs3917991
NM_156039.3(CSF3R):c.160C>G (p.His54Asp)
NM_156039.3(CSF3R):c.160C>T (p.His54Tyr)
NM_156039.3(CSF3R):c.1612A>G (p.Ile538Val) rs375571657
NM_156039.3(CSF3R):c.1640G>A (p.Trp547Ter)
NM_156039.3(CSF3R):c.1684T>C (p.Tyr562His) rs3917996
NM_156039.3(CSF3R):c.1689C>A (p.Thr563=) rs113047241
NM_156039.3(CSF3R):c.1725C>T (p.Ser575=) rs758984105
NM_156039.3(CSF3R):c.1747C>T (p.Arg583Cys)
NM_156039.3(CSF3R):c.1761C>T (p.Leu587=) rs149239453
NM_156039.3(CSF3R):c.1794C>T (p.Ile598=) rs3917998
NM_156039.3(CSF3R):c.1856T>C (p.Leu619Ser) rs141619366
NM_156039.3(CSF3R):c.1864+7G>T
NM_156039.3(CSF3R):c.203_221del (p.Glu68fs)
NM_156039.3(CSF3R):c.2211G>C (p.Glu737Asp)
NM_156039.3(CSF3R):c.2278C>A (p.Pro760Thr) rs78861150
NM_156039.3(CSF3R):c.2323G>A (p.Asp775Asn)
NM_156039.3(CSF3R):c.2406C>T (p.Pro802=) rs138866886
NM_156039.3(CSF3R):c.2503G>A (p.Glu835Lys) rs146617729
NM_156039.3(CSF3R):c.2564A>G (p.His855Arg)
NM_156039.3(CSF3R):c.2577G>A (p.Ala859=) rs150501885
NM_156039.3(CSF3R):c.272A>G (p.His91Arg) rs148307285
NM_156039.3(CSF3R):c.353G>A (p.Arg118His) rs923298829
NM_156039.3(CSF3R):c.355G>A (p.Ala119Thr)
NM_156039.3(CSF3R):c.429G>T (p.Gln143His)
NM_156039.3(CSF3R):c.447G>C (p.Glu149Asp) rs139332126
NM_156039.3(CSF3R):c.524T>C (p.Leu175Pro)
NM_156039.3(CSF3R):c.686C>A (p.Pro229His)
NM_156039.3(CSF3R):c.692T>C (p.Met231Thr) rs3917973
NM_156039.3(CSF3R):c.698G>A (p.Arg233Gln)
NM_156039.3(CSF3R):c.726C>T (p.Ala242=) rs3918017
NM_156039.3(CSF3R):c.799del (p.Glu267fs) rs759302795
NM_156039.3(CSF3R):c.903G>A (p.Thr301=)
NM_156039.3(CSF3R):c.911C>A (p.Thr304Asn)
NM_156039.3(CSF3R):c.922C>T (p.Arg308Cys) rs606231473
NM_156039.3(CSF3R):c.935_963del (p.Arg311_Trp312insTer)
NM_156039.3(CSF3R):c.948_963del (p.His317fs) rs606231475
NM_156039.3(CSF3R):c.958G>A (p.Asp320Asn) rs3918018
NM_156039.3(CSF3R):c.964A>G (p.Ser322Gly)
NM_156039.3(CSF3R):c.995G>A (p.Arg332Gln)
NM_156039.3(CSF3R):c.998-2A>T rs879253750

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