List of variants in gene HAX1 reported as uncertain significance for autosomal recessive severe congenital neutropenia

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 109

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HGVS	dbSNP	gnomAD frequency
NM_006118.4(HAX1):c.117_122dup (p.Glu40_Gly41dup)	rs781468690	0.00035
NM_006118.4(HAX1):c.428G>C (p.Gly143Ala)	rs755031266	0.00029
NM_006118.4(HAX1):c.15T>A (p.Asp5Glu)	rs201078819	0.00021
NM_006118.4(HAX1):c.829C>T (p.Arg277Trp)	rs138296453	0.00018
NM_006118.4(HAX1):c.593C>T (p.Pro198Leu)	rs146152769	0.00016
NM_006118.4(HAX1):c.505-4G>A	rs186219647	0.00010
NM_006118.4(HAX1):c.*47A>G	rs183456651	0.00009
NM_006118.4(HAX1):c.102T>G (p.Asp34Glu)	rs141512965	0.00008
NM_006118.4(HAX1):c.160C>G (p.Pro54Ala)	rs139205111	0.00007
NM_006118.4(HAX1):c.122G>T (p.Gly41Val)	rs369987963	0.00006
NM_006118.4(HAX1):c.574T>C (p.Ser192Pro)	rs751426915	0.00006
NM_006118.4(HAX1):c.679C>T (p.Arg227Trp)	rs200890522	0.00006
NM_006118.4(HAX1):c.676C>T (p.Arg226Cys)	rs765780829	0.00005
NM_006118.4(HAX1):c.725G>A (p.Arg242Gln)	rs763822514	0.00005
NM_006118.4(HAX1):c.835C>T (p.Arg279Trp)	rs780000169	0.00005
NM_006118.4(HAX1):c.221G>A (p.Arg74His)	rs151225652	0.00004
NM_006118.4(HAX1):c.339G>C (p.Glu113Asp)	rs367673863	0.00004
NM_006118.4(HAX1):c.376C>T (p.Arg126Trp)	rs765538745	0.00004
NM_006118.4(HAX1):c.525G>A (p.Met175Ile)	rs747655324	0.00004
NM_006118.4(HAX1):c.724C>T (p.Arg242Ter)	rs760377093	0.00004
NM_006118.4(HAX1):c.757C>A (p.Pro253Thr)	rs149721308	0.00004
NM_006118.4(HAX1):c.704G>A (p.Arg235Gln)	rs139138892	0.00003
NM_006118.4(HAX1):c.11T>C (p.Phe4Ser)	rs780614125	0.00002
NM_006118.4(HAX1):c.168C>A (p.His56Gln)	rs756371972	0.00002
NM_006118.4(HAX1):c.206C>G (p.Pro69Arg)	rs370342620	0.00002
NM_006118.4(HAX1):c.106G>A (p.Glu36Lys)	rs754167096	0.00001
NM_006118.4(HAX1):c.150G>T (p.Arg50Ser)	rs762584289	0.00001
NM_006118.4(HAX1):c.193T>G (p.Phe65Val)	rs1648509630	0.00001
NM_006118.4(HAX1):c.358C>T (p.Arg120Trp)	rs886045320	0.00001
NM_006118.4(HAX1):c.36C>G (p.Gly12=)	rs201477841	0.00001
NM_006118.4(HAX1):c.461C>T (p.Pro154Leu)	rs1389861333	0.00001
NM_006118.4(HAX1):c.469G>A (p.Ala157Thr)	rs745643366	0.00001
NM_006118.4(HAX1):c.46C>T (p.Pro16Ser)	rs763746492	0.00001
NM_006118.4(HAX1):c.571G>A (p.Val191Ile)	rs1024291441	0.00001
NM_006118.4(HAX1):c.680G>T (p.Arg227Leu)	rs747372275	0.00001
NM_006118.4(HAX1):c.685G>C (p.Val229Leu)	rs1465330876	0.00001
NM_006118.4(HAX1):c.700G>A (p.Gly234Ser)	rs1287019123	0.00001
NM_006118.4(HAX1):c.736G>C (p.Asp246His)	rs375477111	0.00001
NM_006118.4(HAX1):c.798C>T (p.Ser266=)	rs762492730	0.00001
NM_006118.4(HAX1):c.809T>C (p.Leu270Ser)	rs759963419	0.00001
NM_006118.4(HAX1):c.811T>C (p.Phe271Leu)	rs375704974	0.00001
NM_006118.4(HAX1):c.836G>A (p.Arg279Gln)	rs746872949	0.00001
NM_006118.4(HAX1):c.*1C>G	rs747961567
NM_006118.4(HAX1):c.*80C>T	rs912619566
NM_006118.4(HAX1):c.105_110dup (p.Glu39_Glu40dup)	rs755700193
NM_006118.4(HAX1):c.107AAG[6] (p.Glu40_Gly41insGlu)
NM_006118.4(HAX1):c.107AAG[7] (p.Glu40_Gly41insGluGlu)
NM_006118.4(HAX1):c.109G>C (p.Glu37Gln)
NM_006118.4(HAX1):c.110A>C (p.Glu37Ala)	rs1220347048
NM_006118.4(HAX1):c.125G>A (p.Gly42Asp)	rs1001600867
NM_006118.4(HAX1):c.135_137del (p.Arg46del)	rs746771318
NM_006118.4(HAX1):c.137G>C (p.Arg46Pro)	rs761500862
NM_006118.4(HAX1):c.14A>C (p.Asp5Ala)	rs747374340
NM_006118.4(HAX1):c.157A>G (p.Ser53Gly)
NM_006118.4(HAX1):c.159T>A (p.Ser53Arg)
NM_006118.4(HAX1):c.172C>T (p.Pro58Ser)	rs1260994720
NM_006118.4(HAX1):c.182T>C (p.Phe61Ser)	rs146452018
NM_006118.4(HAX1):c.182T>G (p.Phe61Cys)	rs146452018
NM_006118.4(HAX1):c.184GGCTTC[3] (p.Phe65_Ser66insGlyPhe)
NM_006118.4(HAX1):c.191G>A (p.Gly64Asp)	rs1684865731
NM_006118.4(HAX1):c.207AGG[2] (p.Gly72del)	rs1558251515
NM_006118.4(HAX1):c.229G>A (p.Asp77Asn)
NM_006118.4(HAX1):c.256C>G (p.Arg86Gly)
NM_006118.4(HAX1):c.257G>A (p.Arg86Gln)
NM_006118.4(HAX1):c.289G>T (p.Ala97Ser)	rs1684869052
NM_006118.4(HAX1):c.316+4T>G
NM_006118.4(HAX1):c.317-9T>A	rs1684873624
NM_006118.4(HAX1):c.317A>C (p.Glu106Ala)
NM_006118.4(HAX1):c.322C>T (p.Pro108Ser)
NM_006118.4(HAX1):c.32T>C (p.Phe11Ser)
NM_006118.4(HAX1):c.365G>A (p.Gly122Glu)
NM_006118.4(HAX1):c.371C>A (p.Thr124Lys)	rs1684875501
NM_006118.4(HAX1):c.377G>A (p.Arg126Gln)	rs147036748
NM_006118.4(HAX1):c.382T>G (p.Ser128Ala)
NM_006118.4(HAX1):c.385A>T (p.Met129Leu)
NM_006118.4(HAX1):c.413C>A (p.Pro138His)
NM_006118.4(HAX1):c.424G>A (p.Gly142Arg)
NM_006118.4(HAX1):c.425G>T (p.Gly142Val)
NM_006118.4(HAX1):c.427G>A (p.Gly143Arg)	rs1001874105
NM_006118.4(HAX1):c.450A>C (p.Arg150Ser)	rs1684878785
NM_006118.4(HAX1):c.47C>T (p.Pro16Leu)	rs1310502848
NM_006118.4(HAX1):c.480G>C (p.Trp160Cys)	rs1392118289
NM_006118.4(HAX1):c.521C>A (p.Pro174His)	rs1257711613
NM_006118.4(HAX1):c.521C>G (p.Pro174Arg)	rs1257711613
NM_006118.4(HAX1):c.54-9del	rs2149139460
NM_006118.4(HAX1):c.556+5G>A
NM_006118.4(HAX1):c.560T>C (p.Leu187Pro)
NM_006118.4(HAX1):c.565T>C (p.Ser189Pro)
NM_006118.4(HAX1):c.583G>A (p.Gly195Ser)
NM_006118.4(HAX1):c.599T>A (p.Leu200Gln)	rs2149140605
NM_006118.4(HAX1):c.605C>T (p.Pro202Leu)
NM_006118.4(HAX1):c.60_61delinsTC (p.Arg20_Asp21delinsSerHis)	rs2149139500
NM_006118.4(HAX1):c.614A>G (p.Lys205Arg)
NM_006118.4(HAX1):c.619T>G (p.Tyr207Asp)	rs1684906279
NM_006118.4(HAX1):c.658G>C (p.Asp220His)
NM_006118.4(HAX1):c.659A>T (p.Asp220Val)	rs1684907371
NM_006118.4(HAX1):c.663+5G>C
NM_006118.4(HAX1):c.665T>C (p.Ile222Thr)	rs753448581
NM_006118.4(HAX1):c.677G>A (p.Arg226His)	rs750920845
NM_006118.4(HAX1):c.703C>T (p.Arg235Trp)
NM_006118.4(HAX1):c.713C>T (p.Thr238Ile)	rs377331781
NM_006118.4(HAX1):c.752G>T (p.Gly251Val)
NM_006118.4(HAX1):c.779C>T (p.Ala260Val)
NM_006118.4(HAX1):c.781C>G (p.Leu261Val)	rs2149140834
NM_006118.4(HAX1):c.797C>T (p.Ser266Phe)	rs1684917433
NM_006118.4(HAX1):c.800del (p.Ile267fs)
NM_006118.4(HAX1):c.820C>T (p.Arg274Cys)	rs753078666
NM_006118.4(HAX1):c.93_95del (p.Glu31del)	rs773579418
NM_006118.4(HAX1):c.96TGA[2] (p.Asp34del)	rs560912060

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