ClinVar Miner

List of variants in gene combination CSF1R, LOC111188154 reported by Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001288705.3(CSF1R):c.726C>T (p.Thr242=) rs2228422 0.47995
NM_001288705.3(CSF1R):c.721A>G (p.Asn241Asp) rs79702016 0.00855
NM_001288705.3(CSF1R):c.704T>G (p.Val235Gly) rs1465872803 0.00001

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