ClinVar Miner

List of variants studied for autosomal recessive severe congenital neutropenia by Illumina Laboratory Services, Illumina

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 54
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HGVS dbSNP gnomAD frequency
NM_138387.4(G6PC3):c.-129C>T rs228758 0.36841
NM_006118.4(HAX1):c.-58T>G rs11265425 0.23384
NM_138387.4(G6PC3):c.381G>A (p.Thr127=) rs3815076 0.12385
NM_006118.4(HAX1):c.159T>C (p.Ser53=) rs13796 0.09423
NM_138387.4(G6PC3):c.416+5A>G rs73306693 0.01443
NM_138387.4(G6PC3):c.647C>T (p.Thr216Ile) rs34406052 0.01442
NM_138387.4(G6PC3):c.-152T>C rs149756661 0.01300
NM_006118.4(HAX1):c.53+14C>T rs115683875 0.00834
NM_138387.4(G6PC3):c.*2T>C rs113416399 0.00711
NM_138387.4(G6PC3):c.815A>G (p.Gln272Arg) rs34491309 0.00334
NM_138387.4(G6PC3):c.-194C>T rs28370440 0.00305
NM_006118.4(HAX1):c.207A>T (p.Pro69=) rs142150013 0.00228
NM_138387.4(G6PC3):c.187A>C (p.Ile63Leu) rs34878178 0.00124
NM_138387.4(G6PC3):c.*97G>C rs565305947 0.00091
NM_006118.4(HAX1):c.514G>A (p.Val172Ile) rs141970914 0.00016
NM_006118.4(HAX1):c.593C>T (p.Pro198Leu) rs146152769 0.00016
NM_138387.4(G6PC3):c.407G>A (p.Arg136Gln) rs200050824 0.00016
NM_138387.4(G6PC3):c.-164G>A rs886052985 0.00011
NM_138387.4(G6PC3):c.406C>T (p.Arg136Trp) rs138557340 0.00011
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.-52G>T rs578086387 0.00009
NM_138387.4(G6PC3):c.-178C>A rs767632217 0.00009
NM_138387.4(G6PC3):c.727G>A (p.Val243Met) rs140785361 0.00008
NM_006118.4(HAX1):c.574T>C (p.Ser192Pro) rs751426915 0.00006
NM_138387.4(G6PC3):c.668A>C (p.Asp223Ala) rs779584053 0.00006
NM_138387.4(G6PC3):c.-231A>G rs886052983 0.00005
NM_006118.4(HAX1):c.724C>T (p.Arg242Ter) rs760377093 0.00004
NM_138387.4(G6PC3):c.219-13T>C rs773122600 0.00003
NM_138387.4(G6PC3):c.938A>G (p.Asn313Ser) rs202163545 0.00003
NM_138387.4(G6PC3):c.-155T>A rs756204705 0.00002
NM_138387.4(G6PC3):c.201C>T (p.Leu67=) rs375273894 0.00002
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_138387.4(G6PC3):c.-149G>A rs1567967341 0.00001
NM_138387.4(G6PC3):c.-48G>A rs746461072 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
NM_138387.4(G6PC3):c.*151G>C rs1046770
NM_138387.4(G6PC3):c.*234C>G rs763555878
NM_138387.4(G6PC3):c.*67G>A rs11544393
NM_138387.4(G6PC3):c.-162G>A rs536609615
NM_138387.4(G6PC3):c.144C>G (p.Tyr48Ter) rs1194477276
NM_138387.4(G6PC3):c.187A>G (p.Ile63Val) rs34878178
NM_138387.4(G6PC3):c.377T>C (p.Met126Thr) rs886052986
NM_138387.4(G6PC3):c.417-14T>C rs2050055854
NM_138387.4(G6PC3):c.417-9T>G rs759937203

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