ClinVar Miner

List of variants in gene CSF3R reported as benign for autosomal recessive severe congenital neutropenia

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 16
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HGVS dbSNP
NM_156039.3(CSF3R):c.1037A>G (p.Gln346Arg) rs3917974
NM_156039.3(CSF3R):c.105C>A (p.Ile35=) rs3917954
NM_156039.3(CSF3R):c.1213G>A (p.Glu405Lys) rs3918019
NM_156039.3(CSF3R):c.1410G>A (p.Ala470=) rs3917988
NM_156039.3(CSF3R):c.1458G>A (p.Thr486=) rs138289951
NM_156039.3(CSF3R):c.1528G>C (p.Asp510His) rs3917991
NM_156039.3(CSF3R):c.1684T>C (p.Tyr562His) rs3917996
NM_156039.3(CSF3R):c.1689C>A (p.Thr563=) rs113047241
NM_156039.3(CSF3R):c.1794C>T (p.Ile598=) rs3917998
NM_156039.3(CSF3R):c.2278C>A (p.Pro760Thr) rs78861150
NM_156039.3(CSF3R):c.2503G>A (p.Glu835Lys) rs146617729
NM_156039.3(CSF3R):c.2577G>A (p.Ala859=) rs150501885
NM_156039.3(CSF3R):c.447G>C (p.Glu149Asp) rs139332126
NM_156039.3(CSF3R):c.692T>C (p.Met231Thr) rs3917973
NM_156039.3(CSF3R):c.726C>T (p.Ala242=) rs3918017
NM_156039.3(CSF3R):c.958G>A (p.Asp320Asn) rs3918018

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