ClinVar Miner

Variants in gene combination C1QTNF5, MFRP 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
746 26 0 14 20 0 3 37

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 4 3 0 0
likely pathogenic 4 0 0 0 0
uncertain significance 3 0 0 16 4
likely benign 0 0 16 0 10
benign 0 0 4 10 0

All variants with conflicting interpretations #

Total variants: 37
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_031433.4(MFRP):c.492C>T (p.Tyr164=) rs36015759 0.23503
NM_031433.4(MFRP):c.355A>G (p.Ile119Val) rs4639950 0.01611
NM_031433.4(MFRP):c.160C>G (p.Arg54Gly) rs139436396 0.00934
NM_031433.4(MFRP):c.1374G>T (p.Leu458Phe) rs145881139 0.00888
NM_031433.4(MFRP):c.1635G>A (p.Ala545=) rs138370910 0.00631
NM_031433.4(MFRP):c.629G>T (p.Gly210Val) rs150902999 0.00344
NM_031433.4(MFRP):c.641+9C>T rs189840088 0.00337
NM_031433.4(MFRP):c.773-8A>C rs143891457 0.00264
NM_031433.4(MFRP):c.669G>A (p.Thr223=) rs139222274 0.00187
NM_031433.4(MFRP):c.773-9C>T rs187321874 0.00176
NM_031433.4(MFRP):c.1014C>A (p.Ser338Arg) rs145319149 0.00126
NM_031433.4(MFRP):c.976-14A>C rs200069261 0.00050
NM_031433.4(MFRP):c.192C>G (p.Arg64=) rs200143181 0.00019
NM_031433.4(MFRP):c.159T>C (p.Gly53=) rs372897338 0.00011
NM_031433.4(MFRP):c.1256-4G>A rs142533439 0.00010
NM_031433.4(MFRP):c.491_492insT (p.Asn167fs) rs730882143 0.00009
NM_031433.4(MFRP):c.897G>A (p.Ser299=) rs150284394 0.00009
NM_031433.4(MFRP):c.705C>T (p.Phe235=) rs34190279 0.00008
NM_031433.4(MFRP):c.861C>T (p.Asp287=) rs140710522 0.00008
NM_031433.4(MFRP):c.642-2A>G rs376898612 0.00006
NM_031433.4(MFRP):c.898+5G>A rs201089284 0.00006
NM_031433.4(MFRP):c.271+10C>T rs554865241 0.00004
NM_031433.4(MFRP):c.321C>T (p.Ala107=) rs562580805 0.00004
NM_031433.4(MFRP):c.1461C>A (p.Ile487=) rs202139926 0.00003
NM_031433.4(MFRP):c.1506C>T (p.Ser502=) rs773497972 0.00003
NM_031433.4(MFRP):c.807G>A (p.Gln269=) rs371537663 0.00003
NM_031433.4(MFRP):c.303C>T (p.Ser101=) rs530322096 0.00002
NM_001278431.2(C1QTNF5):c.198C>T (p.Gly66=) rs932268494 0.00001
NM_001278431.2(C1QTNF5):c.306G>A (p.Pro102=) rs751346951 0.00001
NM_031433.4(MFRP):c.*1190C>T rs540768941 0.00001
NM_031433.4(MFRP):c.1549C>T (p.Arg517Trp) rs730882144 0.00001
NM_001278431.2(C1QTNF5):c.489C>G (p.Ser163Arg) rs111033578
NM_001278431.2(C1QTNF5):c.583dup (p.Ala195fs) rs369839371
NM_031433.4(MFRP):c.428-2A>G rs986503217
NM_031433.4(MFRP):c.746G>A (p.Trp249Ter) rs786205471
NM_031433.4(MFRP):c.855T>A (p.Cys285Ter) rs1243587288
NM_031433.4(MFRP):c.909G>C (p.Gly303=) rs777996384

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