List of variants in gene CSF1R reported as pathogenic for Hereditary diffuse leukoencephalopathy with spheroids

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_001288705.3(CSF1R):c.1441C>T (p.Gln481Ter)	rs917027829
NM_001288705.3(CSF1R):c.1754-2A>G	rs281860267
NM_001288705.3(CSF1R):c.1897G>A (p.Glu633Lys)	rs281860269
NM_001288705.3(CSF1R):c.1969+1G>A	rs1757478199
NM_001288705.3(CSF1R):c.2060dup (p.Ser688fs)	rs587777245
NM_001288705.3(CSF1R):c.2342C>A (p.Ala781Glu)	rs587777247
NM_001288705.3(CSF1R):c.2342C>T (p.Ala781Val)	rs587777247
NM_001288705.3(CSF1R):c.2345G>A (p.Arg782His)	rs281860281
NM_001288705.3(CSF1R):c.2381T>C (p.Ile794Thr)	rs281860274
NM_001288705.3(CSF1R):c.2442+1G>T	rs587777246
NM_001288705.3(CSF1R):c.2483T>C (p.Phe828Ser)	rs397515557
NM_001288705.3(CSF1R):c.2498C>A (p.Thr833Lys)	rs780804532
NM_001288705.3(CSF1R):c.2509G>T (p.Asp837Tyr)	rs387906662
NM_001288705.3(CSF1R):c.2527_2530delinsGGCA (p.Ile843_Leu844delinsGlyIle)	rs1561904557
NM_001288705.3(CSF1R):c.2624T>C (p.Met875Thr)	rs281860279
NM_001288705.3(CSF1R):c.2655-2A>G	rs690016554
NM_005211.3(CSF1R):c.2467C>T	rs690016562

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