ClinVar Miner

List of variants reported as uncertain significance for autosomal recessive severe congenital neutropenia by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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NM_007259.5(VPS45):c.1535A>G (p.Tyr512Cys) rs782797599
NM_138387.3(G6PC3):c.201C>T (p.Leu67=) rs375273894
NM_138387.3(G6PC3):c.677+7C>T rs1045392209
NM_156039.3(CSF3R):c.103A>G (p.Ile35Val) rs755370892
NM_156039.3(CSF3R):c.1072-10T>C rs1557592278

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