ClinVar Miner

List of variants in gene CSF1R reported by Genome Diagnostics Laboratory, Amsterdam University Medical Center

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Gene type:
ClinVar version:
Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_001288705.3(CSF1R):c.84T>C (p.Pro28=) rs216123 0.46517
NM_001288705.3(CSF1R):c.1626+7C>T rs34928010 0.13020
NM_001288705.3(CSF1R):c.1085A>G (p.His362Arg) rs10079250 0.08472
NM_001288705.3(CSF1R):c.294C>T (p.His98=) rs17652007 0.03331
NM_001288705.3(CSF1R):c.2535C>G (p.Leu845=) rs56327604 0.03157
NM_001288705.3(CSF1R):c.733G>T (p.Ala245Ser) rs41338945 0.02627
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.1626+13G>A rs115895865 0.00429
NM_001288705.3(CSF1R):c.2841T>C (p.Ser947=) rs148054244 0.00353
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.764A>T (p.Asn255Ile) rs146406037 0.00086
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.1510+16C>T rs200626267 0.00031
NM_001288705.3(CSF1R):c.2554+3G>A rs377388187 0.00009
NM_001288705.3(CSF1R):c.819C>T (p.Ala273=) rs373141539 0.00007
NM_001288705.3(CSF1R):c.1913G>C (p.Ser638Thr) rs541530647 0.00002
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.2132+5C>T rs17110908
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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