ClinVar Miner

List of variants in gene CSF1R reported as likely pathogenic for Brain abnormalities, neurodegeneration, and dysosteosclerosis

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001288705.3(CSF1R):c.1969+115_1969+116del rs1581289103
NM_001288705.3(CSF1R):c.2350G>A (p.Val784Met) rs690016564
NM_001288705.3(CSF1R):c.2545T>A (p.Phe849Ile)
NM_001288705.3(CSF1R):c.69dup (p.Glu24fs)
NM_001288705.3(CSF1R):c.828C>G (p.Tyr276Ter) rs1758310413

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