ClinVar Miner

List of variants reported as benign for autosomal recessive severe congenital neutropenia

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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NM_007259.5(VPS45):c.1032A>G (p.Glu344=) rs74127419
NM_007259.5(VPS45):c.246T>G (p.Ile82Met) rs62622370
NM_032492.4(JAGN1):c.21G>C (p.Pro7=) rs138937423
NM_032492.4(JAGN1):c.244A>G (p.Ile82Val) rs35365817
NM_156039.3(CSF3R):c.1528G>C (p.Asp510His) rs3917991
NM_156039.3(CSF3R):c.2278C>A (p.Pro760Thr) rs78861150
NM_156039.3(CSF3R):c.726C>T (p.Ala242=) rs3918017
NM_156039.3(CSF3R):c.958G>A (p.Asp320Asn) rs3918018

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