ClinVar Miner

Variants in gene MFN2 with conflicting interpretations

See also:
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
1122 57 0 28 19 0 15 52

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 10 5 0 1
likely pathogenic 10 0 10 1 1
uncertain significance 5 10 0 18 5
likely benign 0 1 18 0 18
benign 1 1 5 18 0

All variants with conflicting interpretations #

Total variants: 52
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_014874.4(MFN2):c.159C>T (p.Ser53=) rs61733200 0.02240
NM_014874.4(MFN2):c.957C>T (p.Gly319=) rs41278632 0.00690
NM_014874.4(MFN2):c.2113G>A (p.Val705Ile) rs142271930 0.00621
NM_014874.4(MFN2):c.1403G>A (p.Arg468His) rs138382758 0.00255
NM_014874.4(MFN2):c.892G>A (p.Gly298Arg) rs41278630 0.00221
NM_014874.4(MFN2):c.663T>C (p.Asp221=) rs116504054 0.00184
NM_014874.4(MFN2):c.1179G>A (p.Met393Ile) rs12069578 0.00153
NM_014874.4(MFN2):c.165C>T (p.Thr55=) rs77458527 0.00106
NM_014874.4(MFN2):c.408A>T (p.Val136=) rs78814413 0.00106
NM_014874.4(MFN2):c.150C>A (p.Ile50=) rs78841746 0.00089
NM_014874.4(MFN2):c.891C>T (p.Ala297=) rs11554508 0.00087
NM_014874.4(MFN2):c.1452G>A (p.Thr484=) rs150043585 0.00083
NM_014874.4(MFN2):c.1495+9C>T rs375494746 0.00059
NM_014874.4(MFN2):c.756C>T (p.Asn252=) rs137960129 0.00053
NM_014874.4(MFN2):c.1827C>T (p.Ser609=) rs138724074 0.00039
NM_014874.4(MFN2):c.2146G>A (p.Ala716Thr) rs144860227 0.00032
NM_014874.4(MFN2):c.2119C>T (p.Arg707Trp) rs119103267 0.00029
NM_014874.4(MFN2):c.749G>A (p.Arg250Gln) rs140234726 0.00019
NM_014874.4(MFN2):c.175+9G>A rs373340717 0.00018
NM_014874.4(MFN2):c.2157G>A (p.Lys719=) rs148441213 0.00017
NM_014874.4(MFN2):c.1987C>T (p.Arg663Cys) rs369762154 0.00011
NM_014874.4(MFN2):c.842G>C (p.Cys281Ser) rs147136530 0.00010
NM_014874.4(MFN2):c.160G>A (p.Ala54Thr) rs61733203 0.00008
NM_014874.4(MFN2):c.1779G>A (p.Ser593=) rs367623682 0.00006
NM_014874.4(MFN2):c.179C>T (p.Thr60Met) rs138345244 0.00005
NM_014874.4(MFN2):c.1269G>A (p.Thr423=) rs145994616 0.00004
NM_014874.4(MFN2):c.1529G>A (p.Arg510Gln) rs376598131 0.00004
NM_014874.4(MFN2):c.58C>T (p.His20Tyr) rs201715603 0.00004
NM_014874.4(MFN2):c.1085C>T (p.Thr362Met) rs387906991 0.00003
NM_014874.4(MFN2):c.119A>G (p.Asn40Ser) rs1354203259 0.00003
NM_014874.4(MFN2):c.2145C>T (p.Ala715=) rs571011689 0.00003
NM_014874.4(MFN2):c.334G>A (p.Val112Met) rs757937208 0.00002
NM_014874.4(MFN2):c.1724G>A (p.Arg575His) rs564375950 0.00001
NM_014874.4(MFN2):c.2204+13C>T rs200441797 0.00001
NM_014874.4(MFN2):c.2258dup (p.Gln754fs) rs773371488 0.00001
NM_014874.4(MFN2):c.707C>T (p.Thr236Met) rs773159585 0.00001
NM_014874.4(MFN2):c.1082A>G (p.His361Arg) rs1064793170
NM_014874.4(MFN2):c.1091G>A (p.Arg364Gln) rs879254011
NM_014874.4(MFN2):c.1126A>G (p.Met376Val) rs863224967
NM_014874.4(MFN2):c.1127T>C (p.Met376Thr) rs1569854342
NM_014874.4(MFN2):c.1252C>T (p.Arg418Ter) rs1057517987
NM_014874.4(MFN2):c.1717-9_1717-6del rs746359726
NM_014874.4(MFN2):c.1920C>G (p.Leu640=) rs141468012
NM_014874.4(MFN2):c.2219G>C (p.Trp740Ser) rs28940292
NM_014874.4(MFN2):c.239G>T (p.Gly80Val) rs139827903
NM_014874.4(MFN2):c.272T>G (p.Val91Gly) rs1569816262
NM_014874.4(MFN2):c.382C>T (p.His128Tyr) rs2100822486
NM_014874.4(MFN2):c.392A>G (p.Asn131Ser) rs776404901
NM_014874.4(MFN2):c.491C>T (p.Ala164Val) rs1553142699
NM_014874.4(MFN2):c.711A>T (p.Glu237Asp) rs1557525000
NM_014874.4(MFN2):c.751C>G (p.Pro251Ala) rs28940295
NM_014874.4(MFN2):c.775C>T (p.Arg259Cys) rs587777875

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