ClinVar Miner

List of variants reported as benign 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: 12
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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_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_006118.4(HAX1):c.514G>A (p.Val172Ile) rs141970914 0.00016
NM_006118.4(HAX1):c.-52G>T rs578086387 0.00009
NM_138387.4(G6PC3):c.*151G>C rs1046770

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