List of variants reported as uncertain significance for Kostmann syndrome by Illumina Laboratory Services, Illumina

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
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.574T>C (p.Ser192Pro)	rs751426915	0.00006
NM_006118.4(HAX1):c.724C>T (p.Arg242Ter)	rs760377093	0.00004
NM_006118.4(HAX1):c.358C>T (p.Arg120Trp)	rs886045320	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_006118.3(HAX1):c.-150A>T	rs544123058
NM_006118.4(HAX1):c.*1C>G	rs747961567
NM_006118.4(HAX1):c.*80C>T	rs912619566
NM_006118.4(HAX1):c.137G>C (p.Arg46Pro)	rs761500862
NM_006118.4(HAX1):c.619T>G (p.Tyr207Asp)	rs1684906279
NM_006118.4(HAX1):c.659A>T (p.Asp220Val)	rs1684907371
NM_006118.4(HAX1):c.677G>A (p.Arg226His)	rs750920845
NM_006118.4(HAX1):c.713C>T (p.Thr238Ile)	rs377331781

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