ClinVar Miner

List of variants in gene CSF3R reported as uncertain significance 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: 30
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HGVS dbSNP
NC_000001.10:g.(?_36931677)_(36937267_?)dup
NM_156039.3(CSF3R):c.101C>T (p.Pro34Leu)
NM_156039.3(CSF3R):c.1027C>T (p.Arg343Trp) rs752325760
NM_156039.3(CSF3R):c.103A>G (p.Ile35Val) rs755370892
NM_156039.3(CSF3R):c.1072-10T>C rs1557592278
NM_156039.3(CSF3R):c.1115T>A (p.Val372Glu)
NM_156039.3(CSF3R):c.1253_1254inv (p.Arg418His)
NM_156039.3(CSF3R):c.1286-3C>T rs778391319
NM_156039.3(CSF3R):c.1358A>G (p.Asn453Ser)
NM_156039.3(CSF3R):c.1399C>T (p.Pro467Ser)
NM_156039.3(CSF3R):c.1510G>A (p.Val504Met)
NM_156039.3(CSF3R):c.160C>G (p.His54Asp)
NM_156039.3(CSF3R):c.160C>T (p.His54Tyr)
NM_156039.3(CSF3R):c.1612A>G (p.Ile538Val) rs375571657
NM_156039.3(CSF3R):c.1747C>T (p.Arg583Cys)
NM_156039.3(CSF3R):c.1864+7G>T
NM_156039.3(CSF3R):c.2211G>C (p.Glu737Asp)
NM_156039.3(CSF3R):c.2323G>A (p.Asp775Asn)
NM_156039.3(CSF3R):c.2564A>G (p.His855Arg)
NM_156039.3(CSF3R):c.272A>G (p.His91Arg) rs148307285
NM_156039.3(CSF3R):c.353G>A (p.Arg118His) rs923298829
NM_156039.3(CSF3R):c.355G>A (p.Ala119Thr)
NM_156039.3(CSF3R):c.429G>T (p.Gln143His)
NM_156039.3(CSF3R):c.524T>C (p.Leu175Pro)
NM_156039.3(CSF3R):c.686C>A (p.Pro229His)
NM_156039.3(CSF3R):c.698G>A (p.Arg233Gln)
NM_156039.3(CSF3R):c.903G>A (p.Thr301=)
NM_156039.3(CSF3R):c.911C>A (p.Thr304Asn)
NM_156039.3(CSF3R):c.964A>G (p.Ser322Gly)
NM_156039.3(CSF3R):c.995G>A (p.Arg332Gln)

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