ClinVar Miner

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

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Total variants: 15
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HGVS dbSNP gnomAD frequency
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.268C>A (p.Pro90Thr) rs150475750 0.00198
NM_001288705.3(CSF1R):c.1626+3G>A rs41424145 0.00137
NM_001288705.3(CSF1R):c.316C>T (p.Arg106Trp) rs143025739 0.00046
NM_001288705.3(CSF1R):c.2222-18C>T rs374818714 0.00034
NM_001288705.3(CSF1R):c.2746G>A (p.Glu916Lys) rs142435467 0.00033
NM_001288705.3(CSF1R):c.2554+3G>A rs377388187 0.00009
NM_001288705.3(CSF1R):c.1179G>A (p.Thr393=) rs767546915 0.00001
NM_001288705.3(CSF1R):c.2222-3T>C rs747007270 0.00001
NM_001288705.3(CSF1R):c.2239G>A (p.Gly747Arg) rs41355444
NM_001288705.3(CSF1R):c.368C>G (p.Ala123Gly) rs140924076
NM_001288705.3(CSF1R):c.93C>T (p.Val31=) rs41424646

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