ClinVar Miner

Variants in gene LMNA 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:

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
1723 283 3 80 61 0 48 163

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 43 15 1 0
likely pathogenic 43 0 40 0 0
uncertain significance 15 40 3 60 19
likely benign 1 0 60 0 37
benign 0 0 19 37 0

All variants with conflicting interpretations #

Total variants: 163
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_170707.4(LMNA):c.1338T>C (p.Asp446=) rs505058 0.22862
NM_170707.4(LMNA):c.1698C>T (p.His566=) rs4641 0.20715
NM_170707.4(LMNA):c.861T>C (p.Ala287=) rs538089 0.18331
NM_170707.4(LMNA):c.1157+16G>A rs534807 0.17703
NM_170707.4(LMNA):c.1158-43A>G rs16837198 0.02198
NM_170707.4(LMNA):c.1158-44C>T rs141879453 0.00929
NM_170707.4(LMNA):c.612G>A (p.Leu204=) rs12117552 0.00637
NM_170707.4(LMNA):c.357-3717A>G rs148559653 0.00432
NM_170707.4(LMNA):c.811-13T>A rs80356809 0.00309
NM_170707.4(LMNA):c.1761G>A (p.Leu587=) rs80356813 0.00210
NM_170707.4(LMNA):c.1851C>T (p.Ala617=) rs143189394 0.00158
NM_170707.4(LMNA):c.1566C>T (p.Cys522=) rs149339264 0.00123
NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys) rs142000963 0.00116
NM_170707.4(LMNA):c.640-52C>T rs41314033 0.00088
NM_170707.4(LMNA):c.1489-16C>G rs201379016 0.00077
NM_170707.4(LMNA):c.1804G>A (p.Gly602Ser) rs60662302 0.00076
NM_170707.4(LMNA):c.1912G>A (p.Gly638Arg) rs144851946 0.00057
NM_170707.4(LMNA):c.1911C>T (p.Phe637=) rs117939448 0.00048
NM_170707.4(LMNA):c.789G>A (p.Leu263=) rs148557956 0.00048
NM_170707.4(LMNA):c.1584G>A (p.Thr528=) rs80356812 0.00029
NM_170707.4(LMNA):c.192C>T (p.Thr64=) rs137969290 0.00028
NM_170707.4(LMNA):c.1634G>A (p.Arg545His) rs142191737 0.00025
NM_170707.4(LMNA):c.1017G>A (p.Ala339=) rs17847242 0.00021
NM_170707.4(LMNA):c.1656C>T (p.Asp552=) rs370219874 0.00016
NM_170707.4(LMNA):c.1657G>A (p.Asp553Asn) rs373671419 0.00016
NM_170707.4(LMNA):c.895A>G (p.Ile299Val) rs150924946 0.00016
NM_170707.4(LMNA):c.1488+14C>T rs377700689 0.00013
NM_170707.4(LMNA):c.1718C>T (p.Ser573Leu) rs60890628 0.00012
NM_170707.4(LMNA):c.1314G>A (p.Gly438=) rs774817302 0.00011
NM_170707.4(LMNA):c.1978A>G (p.Asn660Asp) rs374926367 0.00010
NM_170707.4(LMNA):c.1390A>G (p.Met464Val) rs200262654 0.00009
NM_170707.4(LMNA):c.976T>A (p.Ser326Thr) rs56851164 0.00009
NM_170707.4(LMNA):c.1530C>T (p.Thr510=) rs138098342 0.00007
NM_170707.4(LMNA):c.1004G>A (p.Arg335Gln) rs138592977 0.00006
NM_170707.4(LMNA):c.1051A>C (p.Arg351=) rs771623461 0.00006
NM_170707.4(LMNA):c.1149G>A (p.Glu383=) rs267607603 0.00006
NM_170707.4(LMNA):c.1243G>A (p.Val415Ile) rs267607606 0.00006
NM_170707.4(LMNA):c.1381-6C>T rs371635492 0.00006
NM_170707.4(LMNA):c.937-7C>G rs267607681 0.00006
NM_170707.4(LMNA):c.1488G>A (p.Thr496=) rs375516745 0.00005
NM_170707.4(LMNA):c.1189C>T (p.Arg397Cys) rs374726751 0.00004
NM_170707.4(LMNA):c.1376A>G (p.Asn459Ser) rs372011095 0.00004
NM_170707.4(LMNA):c.1580G>A (p.Arg527His) rs57520892 0.00004
NM_170707.4(LMNA):c.1931G>A (p.Arg644His) rs368386019 0.00004
NM_170707.4(LMNA):c.350A>G (p.Lys117Arg) rs397517901 0.00004
NM_170707.4(LMNA):c.726G>A (p.Ala242=) rs763625309 0.00004
NM_170707.4(LMNA):c.992G>A (p.Arg331Gln) rs59301204 0.00004
NM_005572.4(LMNA):c.1712G>A (p.Arg571His) rs200917748 0.00003
NM_170707.4(LMNA):c.1227A>G (p.Thr409=) rs762130433 0.00003
NM_170707.4(LMNA):c.1311C>T (p.Ser437=) rs763224059 0.00003
NM_170707.4(LMNA):c.1381-13A>G rs750192865 0.00003
NM_170707.4(LMNA):c.937-8C>A rs751707982 0.00003
NM_170707.4(LMNA):c.1047G>A (p.Arg349=) rs147015659 0.00002
NM_170707.4(LMNA):c.1098G>A (p.Lys366=) rs57901307 0.00002
NM_170707.4(LMNA):c.1157+6C>G rs374768416 0.00002
NM_170707.4(LMNA):c.1185G>A (p.Ser395=) rs397517890 0.00002
NM_170707.4(LMNA):c.1279C>T (p.Arg427Cys) rs373584456 0.00002
NM_170707.4(LMNA):c.1318G>A (p.Val440Met) rs121912493 0.00002
NM_170707.4(LMNA):c.290A>C (p.Lys97Thr) rs1060502216 0.00002
NM_170707.4(LMNA):c.295C>A (p.Arg99Ser) rs886045364 0.00002
NM_170707.4(LMNA):c.357-3748C>T rs1048086299 0.00002
NM_170707.4(LMNA):c.514-11C>T rs886045365 0.00002
NM_170707.4(LMNA):c.647G>A (p.Arg216His) rs757041809 0.00002
NM_170707.4(LMNA):c.659G>A (p.Arg220His) rs780066296 0.00002
NM_170707.4(LMNA):c.867C>T (p.His289=) rs780415585 0.00002
NM_170707.4(LMNA):c.870G>A (p.Glu290=) rs747275587 0.00002
NM_170707.4(LMNA):c.892C>T (p.Arg298Cys) rs59885338 0.00002
NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp) rs386134243 0.00001
NM_170707.4(LMNA):c.1027C>T (p.Arg343Trp) rs749784223 0.00001
NM_170707.4(LMNA):c.1045C>T (p.Arg349Trp) rs267607555 0.00001
NM_170707.4(LMNA):c.111G>A (p.Glu37=) rs886038906 0.00001
NM_170707.4(LMNA):c.1129C>T (p.Arg377Cys) rs397517889 0.00001
NM_170707.4(LMNA):c.1182C>T (p.Thr394=) rs1409406468 0.00001
NM_170707.4(LMNA):c.1262T>C (p.Leu421Pro) rs267607564 0.00001
NM_170707.4(LMNA):c.12G>A (p.Pro4=) rs369823958 0.00001
NM_170707.4(LMNA):c.1303C>T (p.Arg435Cys) rs150840924 0.00001
NM_170707.4(LMNA):c.1358G>A (p.Arg453Gln) rs267607598 0.00001
NM_170707.4(LMNA):c.1412G>A (p.Arg471His) rs267607578 0.00001
NM_170707.4(LMNA):c.1444C>T (p.Arg482Trp) rs57920071 0.00001
NM_170707.4(LMNA):c.1487C>T (p.Thr496Met) rs200466188 0.00001
NM_170707.4(LMNA):c.1488+8G>A rs762836610 0.00001
NM_170707.4(LMNA):c.1579C>T (p.Arg527Cys) rs57318642 0.00001
NM_170707.4(LMNA):c.1583C>T (p.Thr528Met) rs57629361 0.00001
NM_170707.4(LMNA):c.1633C>T (p.Arg545Cys) rs267607613 0.00001
NM_170707.4(LMNA):c.1699-8C>G rs727503137 0.00001
NM_170707.4(LMNA):c.1728C>T (p.Pro576=) rs767783294 0.00001
NM_170707.4(LMNA):c.1744C>T (p.Arg582Cys) rs918645468 0.00001
NM_170707.4(LMNA):c.1745G>A (p.Arg582His) rs57830985 0.00001
NM_170707.4(LMNA):c.1764C>T (p.Cys588=) rs759016336 0.00001
NM_170707.4(LMNA):c.1773C>T (p.Cys591=) rs397517897 0.00001
NM_170707.4(LMNA):c.1774G>A (p.Gly592Arg) rs786205448 0.00001
NM_170707.4(LMNA):c.1890G>A (p.Gly630=) rs770389147 0.00001
NM_170707.4(LMNA):c.274C>T (p.Leu92Phe) rs267607560 0.00001
NM_170707.4(LMNA):c.294G>A (p.Glu98=) rs886045363 0.00001
NM_170707.4(LMNA):c.346C>T (p.Leu116=) rs876657491 0.00001
NM_170707.4(LMNA):c.643C>T (p.Leu215=) rs397517905 0.00001
NM_170707.4(LMNA):c.646C>T (p.Arg216Cys) rs794728591 0.00001
NM_170707.4(LMNA):c.725C>T (p.Ala242Val) rs397517906 0.00001
NM_170707.4(LMNA):c.732G>A (p.Ala244=) rs756952925 0.00001
NM_170707.4(LMNA):c.749C>T (p.Ala250Val) rs397517907 0.00001
NM_170707.4(LMNA):c.893G>A (p.Arg298His) rs762653476 0.00001
NM_170707.4(LMNA):c.949G>A (p.Glu317Lys) rs56816490 0.00001
NM_170707.4(LMNA):c.952G>A (p.Ala318Thr) rs267607574 0.00001
NM_170707.4(LMNA):c.953C>T (p.Ala318Val) rs1212920276 0.00001
NM_170707.4(LMNA):c.985C>G (p.Arg329Gly) rs775159300 0.00001
NM_170707.4(LMNA):c.991C>T (p.Arg331Trp) rs879253898 0.00001
NM_005572.4(LMNA):c.1711C>A (p.Arg571Ser) rs80338938
NM_170707.4(LMNA):c.-88G>T rs115800510
NM_170707.4(LMNA):c.1046G>T (p.Arg349Leu) rs58789393
NM_170707.4(LMNA):c.1122C>T (p.His374=) rs143715750
NM_170707.4(LMNA):c.1142_1157+1del rs1553265755
NM_170707.4(LMNA):c.1146C>T (p.Gly382=) rs57508089
NM_170707.4(LMNA):c.1157+1G>C rs267607590
NM_170707.4(LMNA):c.1237G>A (p.Gly413Ser) rs766811975
NM_170707.4(LMNA):c.127G>A (p.Ala43Thr) rs60446065
NM_170707.4(LMNA):c.1294C>T (p.Gln432Ter) rs267607618
NM_170707.4(LMNA):c.1357C>T (p.Arg453Trp) rs58932704
NM_170707.4(LMNA):c.1411C>G (p.Arg471Gly) rs28928902
NM_170707.4(LMNA):c.1411C>T (p.Arg471Cys) rs28928902
NM_170707.4(LMNA):c.1488+1G>A rs267607640
NM_170707.4(LMNA):c.1551G>A (p.Gln517=) rs41314035
NM_170707.4(LMNA):c.1599C>T (p.Ser533=) rs886043346
NM_170707.4(LMNA):c.1609-1G>A rs111569862
NM_170707.4(LMNA):c.1609-3C>G rs267607581
NM_170707.4(LMNA):c.1621C>T (p.Arg541Cys) rs56984562
NM_170707.4(LMNA):c.1622G>A (p.Arg541His) rs61444459
NM_170707.4(LMNA):c.1622G>C (p.Arg541Pro) rs61444459
NM_170707.4(LMNA):c.1698+1G>C rs1553266337
NM_170707.4(LMNA):c.1749G>A (p.Ser583=) rs970494454
NM_170707.4(LMNA):c.179G>C (p.Arg60Pro) rs794728601
NM_170707.4(LMNA):c.1827A>T (p.Gly609=) rs1558135172
NM_170707.4(LMNA):c.1968+18dup rs554157057
NM_170707.4(LMNA):c.1968+5G>A rs797044488
NM_170707.4(LMNA):c.214C>T (p.Arg72Cys) rs17847247
NM_170707.4(LMNA):c.313G>A (p.Glu105Lys) rs2527834482
NM_170707.4(LMNA):c.344A>T (p.Glu115Val) rs794728588
NM_170707.4(LMNA):c.356G>C (p.Arg119Pro) rs397517902
NM_170707.4(LMNA):c.3G>C (p.Met1Ile) rs794728598
NM_170707.4(LMNA):c.3G>T (p.Met1Ile) rs794728598
NM_170707.4(LMNA):c.528A>T (p.Leu176=) rs1026599240
NM_170707.4(LMNA):c.569G>A (p.Arg190Gln) rs267607571
NM_170707.4(LMNA):c.618C>G (p.Phe206Leu) rs267607629
NM_170707.4(LMNA):c.621GAA[1] (p.Lys208del) rs267607540
NM_170707.4(LMNA):c.629T>G (p.Ile210Ser) rs267607572
NM_170707.4(LMNA):c.640-10A>G rs80356807
NM_170707.4(LMNA):c.674G>A (p.Arg225Gln) rs199474724
NM_170707.4(LMNA):c.686T>C (p.Ile229Thr) rs727505357
NM_170707.4(LMNA):c.694G>A (p.Gly232Arg) rs267607609
NM_170707.4(LMNA):c.736C>T (p.Gln246Ter) rs267607587
NM_170707.4(LMNA):c.743T>C (p.Leu248Pro) rs58850446
NM_170707.4(LMNA):c.745C>T (p.Arg249Trp) rs121912496
NM_170707.4(LMNA):c.746G>A (p.Arg249Gln) rs59332535
NM_170707.4(LMNA):c.777T>A (p.Tyr259Ter) rs58048078
NM_170707.4(LMNA):c.778AAG[1] (p.Lys261del) rs58978449
NM_170707.4(LMNA):c.799T>C (p.Tyr267His) rs267607593
NM_170707.4(LMNA):c.807C>G (p.Ala269=) rs1194309507
NM_170707.4(LMNA):c.811-1G>A rs1365042239
NM_170707.4(LMNA):c.868G>A (p.Glu290Lys) rs397517912
NM_170707.4(LMNA):c.876G>A (p.Leu292=) rs2102883669
NM_170707.4(LMNA):c.897C>T (p.Ile299=) rs762718963
NM_170707.4(LMNA):c.937-2A>G rs2527988932
NM_170707.4(LMNA):c.937-8C>G rs751707982
NM_170707.4(LMNA):c.938T>C (p.Leu313Pro) rs2102886618

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