ClinVar Miner

List of variants studied for autosomal recessive severe congenital neutropenia by Genomics Facility, Ludwig-Maximilians-Universität München

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_007259.5(VPS45):c.758C>T (p.Pro253Leu) rs143828923 0.00026
NM_032492.4(JAGN1):c.3G>A (p.Met1Ile) rs587777727 0.00003
NM_006118.4(HAX1):c.130_131insA (p.Trp44Ter) rs1572018284
NM_006118.4(HAX1):c.372_373insGATA (p.Leu125fs) rs2149139969
NM_138387.4(G6PC3):c.337G>A (p.Gly113Arg) rs2144147052

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