List of variants reported as uncertain significance for Kostmann syndrome by Natera, Inc.

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 28

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HGVS	dbSNP	gnomAD frequency
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.102T>G (p.Asp34Glu)	rs141512965	0.00008
NM_006118.4(HAX1):c.679C>T (p.Arg227Trp)	rs200890522	0.00007
NM_006118.4(HAX1):c.122G>T (p.Gly41Val)	rs369987963	0.00006
NM_006118.4(HAX1):c.676C>T (p.Arg226Cys)	rs765780829	0.00005
NM_006118.4(HAX1):c.835C>T (p.Arg279Trp)	rs780000169	0.00005
NM_006118.4(HAX1):c.339G>C (p.Glu113Asp)	rs367673863	0.00004
NM_006118.4(HAX1):c.525G>A (p.Met175Ile)	rs747655324	0.00004
NM_006118.4(HAX1):c.574T>C (p.Ser192Pro)	rs751426915	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.150G>T (p.Arg50Ser)	rs762584289	0.00001
NM_006118.4(HAX1):c.193T>G (p.Phe65Val)	rs1648509630	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.46C>T (p.Pro16Ser)	rs763746492	0.00001
NM_006118.4(HAX1):c.571G>A (p.Val191Ile)	rs1024291441	0.00001
NM_006118.4(HAX1):c.685G>C (p.Val229Leu)	rs1465330876	0.00001
NM_006118.4(HAX1):c.811T>C (p.Phe271Leu)	rs375704974	0.00001
NM_006118.4(HAX1):c.105_110dup (p.Glu39_Glu40dup)	rs755700193
NM_006118.4(HAX1):c.125G>A (p.Gly42Asp)	rs1001600867
NM_006118.4(HAX1):c.182T>G (p.Phe61Cys)	rs146452018
NM_006118.4(HAX1):c.207AGG[2] (p.Gly72del)	rs1558251515
NM_006118.4(HAX1):c.289G>T (p.Ala97Ser)	rs1684869052
NM_006118.4(HAX1):c.820C>T (p.Arg274Cys)	rs753078666

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