ClinVar Miner

Variants in gene CSF1R with conflicting interpretations

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Y axis minimum submission review status: Y axis collection method:
X axis minimum submission review status: X axis collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any conflict
661 52 0 30 18 0 2 48

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 3 1 0 0
likely pathogenic 3 0 1 0 0
uncertain significance 1 1 0 17 3
likely benign 0 0 17 0 27
benign 0 0 3 27 0

All variants with conflicting interpretations #

Total variants: 48
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
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.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.2862C>T (p.Cys954=) rs56005231 0.00146
NM_001288705.3(CSF1R):c.835G>A (p.Val279Met) rs3829986 0.00089
NM_001288705.3(CSF1R):c.764A>T (p.Asn255Ile) rs146406037 0.00086
NM_001288705.3(CSF1R):c.881G>A (p.Arg294Gln) rs149168939 0.00067
NM_001288705.3(CSF1R):c.316C>T (p.Arg106Trp) rs143025739 0.00046
NM_001288705.3(CSF1R):c.1799C>T (p.Thr600Met) rs200788902 0.00034
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.1420G>A (p.Val474Ile) rs191994354 0.00031
NM_001288705.3(CSF1R):c.1510+16C>T rs200626267 0.00031
NM_001288705.3(CSF1R):c.110C>T (p.Thr37Met) rs139635308 0.00018
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.2761C>T (p.Arg921Trp) rs202216061 0.00010
NM_001288705.3(CSF1R):c.2554+3G>A rs377388187 0.00009
NM_001288705.3(CSF1R):c.470C>T (p.Ser157Leu) rs148673905 0.00009
NM_001288705.3(CSF1R):c.2129G>A (p.Arg710His) rs201569135 0.00006
NM_001288705.3(CSF1R):c.942C>T (p.Thr314=) rs569481741 0.00006
NM_001288705.3(CSF1R):c.1885G>T (p.Ala629Ser) rs17854478 0.00005
NM_001288705.3(CSF1R):c.924C>G (p.Asn308Lys) rs747597752 0.00004
NM_001288705.3(CSF1R):c.1056T>C (p.Ala352=) rs755681714 0.00001
NM_001288705.3(CSF1R):c.2392G>A (p.Gly798Arg) rs1209791630 0.00001
NM_001288705.3(CSF1R):c.1125G>A (p.Glu375=)
NM_001288705.3(CSF1R):c.1132C>T (p.Arg378Cys) rs570645140
NM_001288705.3(CSF1R):c.1496T>A (p.Ile499Lys)
NM_001288705.3(CSF1R):c.1765G>A (p.Gly589Arg) rs1757529135
NM_001288705.3(CSF1R):c.2132+5C>T rs17110908
NM_001288705.3(CSF1R):c.2257C>T (p.Arg753Trp)
NM_001288705.3(CSF1R):c.2343G>A (p.Ala781=)
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+2dup rs2113779247
NM_001288705.3(CSF1R):c.368C>G (p.Ala123Gly) rs140924076
NM_001288705.3(CSF1R):c.487A>G (p.Thr163Ala)
NM_001288705.3(CSF1R):c.592+5G>A
NM_001288705.3(CSF1R):c.93C>T (p.Val31=) rs41424646

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