ClinVar Miner

List of variants in gene CSF1R reported by CeGaT Center for Human Genetics Tuebingen

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Total variants: 45
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HGVS dbSNP gnomAD frequency
NM_001288705.3(CSF1R):c.1237G>A (p.Gly413Ser) rs34951517 0.00996
NM_001288705.3(CSF1R):c.2709C>T (p.Phe903=) rs41287094 0.00742
NM_001288705.3(CSF1R):c.282C>T (p.Ser94=) rs41287102 0.00495
NM_001288705.3(CSF1R):c.2760G>C (p.Glu920Asp) rs34030164 0.00332
NM_001288705.3(CSF1R):c.95T>G (p.Val32Gly) rs56048668 0.00332
NM_001288705.3(CSF1R):c.2799T>C (p.Gly933=) rs41287092 0.00258
NM_001288705.3(CSF1R):c.2862C>T (p.Cys954=) rs56005231 0.00146
NM_001288705.3(CSF1R):c.835G>A (p.Val279Met) rs3829986 0.00089
NM_001288705.3(CSF1R):c.316C>T (p.Arg106Trp) rs143025739 0.00046
NM_001288705.3(CSF1R):c.2746G>A (p.Glu916Lys) rs142435467 0.00033
NM_001288705.3(CSF1R):c.1420G>A (p.Val474Ile) rs191994354 0.00031
NM_001288705.3(CSF1R):c.1404G>A (p.Val468=) rs201654254 0.00016
NM_001288705.3(CSF1R):c.237G>A (p.Thr79=) rs146145627 0.00016
NM_001288705.3(CSF1R):c.1701G>A (p.Thr567=) rs567201624 0.00014
NM_001288705.3(CSF1R):c.1653G>A (p.Lys551=) rs201104874 0.00007
NM_001288705.3(CSF1R):c.942C>T (p.Thr314=) rs569481741 0.00006
NM_001288705.3(CSF1R):c.2562T>A (p.Asn854Lys) rs690016565 0.00005
NM_001288705.3(CSF1R):c.449G>A (p.Arg150His) rs1029057991 0.00002
NM_001288705.3(CSF1R):c.518A>G (p.Gln173Arg) rs780547939 0.00002
NM_001288705.3(CSF1R):c.1056T>C (p.Ala352=) rs755681714 0.00001
NM_001288705.3(CSF1R):c.1510+5G>C rs370155999 0.00001
NM_001288705.3(CSF1R):c.1974T>C (p.Pro658=) rs749750947 0.00001
NM_001288705.3(CSF1R):c.2210T>C (p.Phe737Ser) rs768704008 0.00001
NM_001288705.3(CSF1R):c.1132C>T (p.Arg378Cys) rs570645140
NM_001288705.3(CSF1R):c.1202C>T (p.Pro401Leu) rs1554102860
NM_001288705.3(CSF1R):c.1529C>T (p.Pro510Leu)
NM_001288705.3(CSF1R):c.1682_1683insAA (p.Tyr561Ter)
NM_001288705.3(CSF1R):c.1796C>T (p.Ala599Val) rs1581291256
NM_001288705.3(CSF1R):c.1939_1941del (p.Val647del) rs2113789989
NM_001288705.3(CSF1R):c.2058C>T (p.Ser686=)
NM_001288705.3(CSF1R):c.2239G>A (p.Gly747Arg) rs41355444
NM_001288705.3(CSF1R):c.2304C>A (p.Phe768Leu) rs1561906792
NM_001288705.3(CSF1R):c.2319T>C (p.Asn773=)
NM_001288705.3(CSF1R):c.2345G>T (p.Arg782Leu) rs281860281
NM_001288705.3(CSF1R):c.2375C>A (p.Ala792Asp) rs1581280059
NM_001288705.3(CSF1R):c.2381T>C (p.Ile794Thr) rs281860274
NM_001288705.3(CSF1R):c.2471C>G (p.Pro824Arg) rs1757203198
NM_001288705.3(CSF1R):c.2606T>G (p.Val869Gly) rs1057519156
NM_001288705.3(CSF1R):c.2629C>T (p.Gln877Ter) rs690016556
NM_001288705.3(CSF1R):c.2785_2805del (p.Ser929_Ser935del) rs773685033
NM_001288705.3(CSF1R):c.2801G>T (p.Gly934Val)
NM_001288705.3(CSF1R):c.307+5G>A rs886060258
NM_001288705.3(CSF1R):c.368C>G (p.Ala123Gly) rs140924076
NM_001288705.3(CSF1R):c.521A>T (p.Asp174Val)
NM_001288705.3(CSF1R):c.797A>G (p.Asp266Gly)

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