ClinVar Miner

List of variants in gene CSF1R studied for Leukoencephalopathy, diffuse hereditary, with spheroids 1

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_001288705.3(CSF1R):c.2603T>G (p.Leu868Arg) rs281860278 0.00006
NM_001288705.3(CSF1R):c.1399A>G (p.Thr467Ala) rs1215536080 0.00001
NM_001288705.3(CSF1R):c.2179A>G (p.Arg727Gly) rs1757281675 0.00001
NM_001288705.3(CSF1R):c.2503C>T (p.Gln835Ter) rs1403823146 0.00001
NM_001288705.3(CSF1R):c.1232T>C (p.Ile411Thr)
NM_001288705.3(CSF1R):c.1510G>A (p.Gly504Arg)
NM_001288705.3(CSF1R):c.1765G>A (p.Gly589Arg) rs1757529135
NM_001288705.3(CSF1R):c.1772G>A (p.Gly591Glu) rs1757528753
NM_001288705.3(CSF1R):c.1961C>A (p.Thr654Asn) rs1275309683
NM_001288705.3(CSF1R):c.2287G>A (p.Ala763Thr)
NM_001288705.3(CSF1R):c.2330G>A (p.Arg777Gln) rs690016548
NM_001288705.3(CSF1R):c.2339C>T (p.Ala780Val)
NM_001288705.3(CSF1R):c.2344C>T (p.Arg782Cys) rs2113779576
NM_001288705.3(CSF1R):c.2377A>G (p.Lys793Glu)
NM_001288705.3(CSF1R):c.2381T>C (p.Ile794Thr) rs281860274
NM_001288705.3(CSF1R):c.2471C>T (p.Pro824Leu)
NM_001288705.3(CSF1R):c.2563C>A (p.Pro855Thr)
NM_001288705.3(CSF1R):c.2720_2722del (p.Cys907del) rs1757090477
NM_001288705.3(CSF1R):c.2768A>G (p.Tyr923Cys)

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