ClinVar Miner

List of variants reported as uncertain significance for autosomal recessive severe congenital neutropenia

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 99
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HGVS dbSNP
NC_000001.10:g.(?_36931677)_(36937267_?)dup
NC_000003.11:g.(?_9932387)_(9935081_?)dup
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.339G>C (p.Glu113Asp)
NM_006118.3(HAX1):c.376C>T (p.Arg126Trp)
NM_006118.3(HAX1):c.428G>C (p.Gly143Ala)
NM_006118.3(HAX1):c.46C>T (p.Pro16Ser)
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.1174G>A (p.Ala392Thr)
NM_007259.5(VPS45):c.1190G>A (p.Arg397Gln)
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.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.299A>G (p.Asn100Ser) rs139341274
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.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.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.172G>A (p.Gly58Arg) rs919986813
NM_032492.4(JAGN1):c.211C>A (p.Pro71Thr) rs200023062
NM_032492.4(JAGN1):c.35C>T (p.Thr12Ile) rs150797085
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.541A>C (p.Lys181Gln) rs754191323
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.201C>T (p.Leu67=) rs375273894
NM_138387.3(G6PC3):c.31A>G (p.Ile11Val)
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.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.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.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.778G>C (p.Gly260Arg) rs200478425
NM_138387.3(G6PC3):c.800C>G (p.Ser267Cys)
NM_138387.3(G6PC3):c.821G>A (p.Arg274His)
NM_138387.3(G6PC3):c.883G>T (p.Gly295Cys)
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.103A>G (p.Ile35Val) rs755370892
NM_156039.3(CSF3R):c.1072-10T>C rs1557592278
NM_156039.3(CSF3R):c.1115T>A (p.Val372Glu)
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.1510G>A (p.Val504Met)
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.1747C>T (p.Arg583Cys)
NM_156039.3(CSF3R):c.1864+7G>T
NM_156039.3(CSF3R):c.2211G>C (p.Glu737Asp)
NM_156039.3(CSF3R):c.2323G>A (p.Asp775Asn)
NM_156039.3(CSF3R):c.2564A>G (p.His855Arg)
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.524T>C (p.Leu175Pro)
NM_156039.3(CSF3R):c.686C>A (p.Pro229His)
NM_156039.3(CSF3R):c.698G>A (p.Arg233Gln)
NM_156039.3(CSF3R):c.903G>A (p.Thr301=)
NM_156039.3(CSF3R):c.911C>A (p.Thr304Asn)
NM_156039.3(CSF3R):c.964A>G (p.Ser322Gly)
NM_156039.3(CSF3R):c.995G>A (p.Arg332Gln)

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