ClinVar Miner

List of variants in gene CSF1R reported by OMIM

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Gene type:
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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_001288705.3(CSF1R):c.395C>T (p.Pro132Leu) rs1351319114 0.00001
NM_001288705.3(CSF1R):c.1441C>T (p.Gln481Ter) rs917027829
NM_001288705.3(CSF1R):c.1754-1G>C rs1561913526
NM_001288705.3(CSF1R):c.1754-2A>G rs281860267
NM_001288705.3(CSF1R):c.1859-119G>A rs1561912628
NM_001288705.3(CSF1R):c.1879_1881del (p.Lys627del) rs1554101963
NM_001288705.3(CSF1R):c.1897G>A (p.Glu633Lys) rs281860269
NM_001288705.3(CSF1R):c.1929C>A (p.His643Gln) rs184499252
NM_001288705.3(CSF1R):c.1969+115_1969+116del rs1581289103
NM_001288705.3(CSF1R):c.2060dup (p.Ser688fs) rs587777245
NM_001288705.3(CSF1R):c.2342C>A (p.Ala781Glu) 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.2509G>T (p.Asp837Tyr) rs387906662
NM_001288705.3(CSF1R):c.2624T>C (p.Met875Thr) rs281860279

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