ClinVar Miner

Variants in gene SMARCA4 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
5085 281 0 113 87 0 11 199

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 9 3 0 0
likely pathogenic 9 0 9 0 0
uncertain significance 3 9 0 83 10
likely benign 0 0 83 0 104
benign 0 0 10 104 0

All variants with conflicting interpretations #

Total variants: 199
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003072.5(SMARCA4):c.3168+31C>G rs2075021 0.39914
NM_003072.5(SMARCA4):c.4584C>T (p.Asp1528=) rs9105 0.04127
NM_003072.5(SMARCA4):c.1413G>A (p.Lys471=) rs17001073 0.03431
NM_003072.5(SMARCA4):c.1509A>G (p.Ala503=) rs17001075 0.03015
NM_003072.5(SMARCA4):c.915G>A (p.Pro305=) rs149573400 0.01397
NM_003072.5(SMARCA4):c.1419+8C>T rs115492175 0.01292
NM_003072.5(SMARCA4):c.1114T>C (p.Tyr372His) rs140192268 0.01034
NM_003072.5(SMARCA4):c.4635+12G>A rs34930626 0.01001
NM_003072.5(SMARCA4):c.930C>A (p.Arg310=) rs146141457 0.00837
NM_003072.5(SMARCA4):c.4768+15G>C rs113131294 0.00813
NM_003072.5(SMARCA4):c.222+14T>C rs112825147 0.00548
NM_003072.5(SMARCA4):c.1419+7T>C rs112977340 0.00546
NM_003072.5(SMARCA4):c.2388C>T (p.Leu796=) rs28997580 0.00508
NM_003072.5(SMARCA4):c.4272G>A (p.Pro1424=) rs114882905 0.00462
NM_003072.5(SMARCA4):c.4494C>T (p.Tyr1498=) rs139505007 0.00434
NM_003072.5(SMARCA4):c.2001+8T>G rs112549813 0.00384
NM_003072.5(SMARCA4):c.222+18C>T rs180832203 0.00381
NM_003072.5(SMARCA4):c.1740A>G (p.Lys580=) rs114391904 0.00291
NM_003072.5(SMARCA4):c.2275-3C>A rs117611401 0.00243
NM_003072.5(SMARCA4):c.2757C>T (p.Pro919=) rs113955216 0.00241
NM_003072.5(SMARCA4):c.981A>C (p.Pro327=) rs547268941 0.00233
NM_003072.5(SMARCA4):c.4768+10G>A rs201665695 0.00200
NM_003072.5(SMARCA4):c.4227A>G (p.Ser1409=) rs61761958 0.00191
NM_003072.5(SMARCA4):c.3045C>T (p.Gly1015=) rs56101423 0.00163
NM_003072.5(SMARCA4):c.3663G>A (p.Lys1221=) rs61761957 0.00158
NM_003072.5(SMARCA4):c.258C>T (p.Asp86=) rs115992445 0.00153
NM_003072.5(SMARCA4):c.859+7T>A rs141461778 0.00138
NM_003072.5(SMARCA4):c.1419+9C>T rs374635008 0.00128
NM_003072.5(SMARCA4):c.76G>A (p.Ala26Thr) rs145867502 0.00116
NM_003072.5(SMARCA4):c.3927C>T (p.His1309=) rs148495641 0.00079
NM_003072.5(SMARCA4):c.223-5C>T rs376775933 0.00066
NM_003072.5(SMARCA4):c.2967C>T (p.Pro989=) rs149874634 0.00051
NM_003072.5(SMARCA4):c.2817C>T (p.Phe939=) rs147791182 0.00047
NM_003072.5(SMARCA4):c.2850C>T (p.Thr950=) rs141259126 0.00045
NM_003072.5(SMARCA4):c.708T>C (p.Pro236=) rs62639303 0.00044
NM_003072.5(SMARCA4):c.1791T>G (p.Pro597=) rs141806282 0.00038
NM_003072.5(SMARCA4):c.4179G>A (p.Glu1393=) rs201879930 0.00030
NM_003072.5(SMARCA4):c.3903C>T (p.Thr1301=) rs147314370 0.00029
NM_003072.5(SMARCA4):c.3435C>T (p.Pro1145=) rs138764713 0.00028
NM_003072.5(SMARCA4):c.442G>A (p.Gly148Arg) rs138689221 0.00026
NM_003072.5(SMARCA4):c.972C>T (p.Pro324=) rs369239429 0.00026
NM_003072.5(SMARCA4):c.4170+9T>C rs376165296 0.00025
NM_003072.5(SMARCA4):c.4512C>T (p.Pro1504=) rs145435121 0.00023
NM_003072.5(SMARCA4):c.2049C>T (p.Pro683=) rs138878490 0.00022
NM_003072.5(SMARCA4):c.1419+4C>T rs370219784 0.00021
NM_003072.5(SMARCA4):c.747C>T (p.Tyr249=) rs756224211 0.00021
NM_003072.5(SMARCA4):c.2275-10G>A rs375787249 0.00020
NM_003072.5(SMARCA4):c.1076G>A (p.Arg359Gln) rs148530368 0.00019
NM_003072.5(SMARCA4):c.4170+16G>A rs191812860 0.00019
NM_003072.5(SMARCA4):c.2085C>T (p.Ser695=) rs149342641 0.00018
NM_003072.5(SMARCA4):c.4171-1858T>A rs201309716 0.00018
NM_003072.5(SMARCA4):c.1099C>T (p.Leu367=) rs372379166 0.00017
NM_003072.5(SMARCA4):c.425G>T (p.Gly142Val) rs145749221 0.00017
NM_003072.5(SMARCA4):c.441C>T (p.Ser147=) rs201372858 0.00016
NM_003072.5(SMARCA4):c.4692C>T (p.Ile1564=) rs746415437 0.00015
NM_003072.5(SMARCA4):c.2739G>A (p.Pro913=) rs183695281 0.00014
NM_003072.5(SMARCA4):c.2409T>C (p.Asn803=) rs199634608 0.00012
NM_003072.5(SMARCA4):c.403C>G (p.Pro135Ala) rs150949949 0.00012
NM_003072.5(SMARCA4):c.914C>T (p.Pro305Leu) rs138097741 0.00012
NM_003072.5(SMARCA4):c.1236C>T (p.Phe412=) rs140000691 0.00011
NM_003072.5(SMARCA4):c.1557C>T (p.Asn519=) rs2288845 0.00011
NM_003072.5(SMARCA4):c.2403C>T (p.Arg801=) rs142995801 0.00011
NM_003072.5(SMARCA4):c.2022G>T (p.Pro674=) rs539865173 0.00010
NM_003072.5(SMARCA4):c.2460C>T (p.Tyr820=) rs372410282 0.00010
NM_003072.5(SMARCA4):c.4011C>T (p.Leu1337=) rs377720149 0.00010
NM_003072.5(SMARCA4):c.951C>T (p.Ala317=) rs377511733 0.00010
NM_003072.5(SMARCA4):c.1812+3G>A rs371562008 0.00009
NM_003072.5(SMARCA4):c.3975C>T (p.Arg1325=) rs144803359 0.00009
NM_003072.5(SMARCA4):c.4848G>A (p.Pro1616=) rs370590601 0.00009
NM_003072.5(SMARCA4):c.4329C>T (p.Arg1443=) rs373999751 0.00008
NM_003072.5(SMARCA4):c.4344C>T (p.Ala1448=) rs200087760 0.00008
NM_003072.5(SMARCA4):c.2883C>T (p.Thr961=) rs750609318 0.00007
NM_003072.5(SMARCA4):c.3669C>T (p.Asn1223=) rs28997581 0.00007
NM_003072.5(SMARCA4):c.797C>T (p.Ser266Leu) rs371045201 0.00007
NM_003072.5(SMARCA4):c.1287G>A (p.Ala429=) rs143600641 0.00006
NM_003072.5(SMARCA4):c.1344C>T (p.Arg448=) rs140328531 0.00006
NM_003072.5(SMARCA4):c.1419+5G>A rs199814381 0.00006
NM_003072.5(SMARCA4):c.2808C>T (p.Cys936=) rs144841907 0.00006
NM_003072.5(SMARCA4):c.3383-5G>A rs762528243 0.00006
NM_003072.5(SMARCA4):c.3483C>T (p.Leu1161=) rs375444418 0.00006
NM_003072.5(SMARCA4):c.4302C>T (p.Asp1434=) rs146747026 0.00006
NM_003072.5(SMARCA4):c.591C>T (p.Pro197=) rs572753619 0.00006
NM_003072.5(SMARCA4):c.1803G>A (p.Pro601=) rs751166438 0.00005
NM_003072.5(SMARCA4):c.3791C>T (p.Thr1264Met) rs377119410 0.00005
NM_003072.5(SMARCA4):c.1209G>A (p.Glu403=) rs200159174 0.00004
NM_003072.5(SMARCA4):c.1782A>G (p.Gly594=) rs369362739 0.00004
NM_003072.5(SMARCA4):c.1847C>T (p.Pro616Leu) rs755935365 0.00004
NM_003072.5(SMARCA4):c.247G>A (p.Gly83Ser) rs766474711 0.00004
NM_003072.5(SMARCA4):c.3747C>T (p.Ala1249=) rs778654099 0.00004
NM_003072.5(SMARCA4):c.4182G>A (p.Glu1394=) rs763867884 0.00004
NM_003072.5(SMARCA4):c.4847C>T (p.Pro1616Leu) rs878854234 0.00004
NM_003072.5(SMARCA4):c.656C>T (p.Thr219Met) rs371832808 0.00004
NM_003072.5(SMARCA4):c.1044G>A (p.Lys348=) rs566093923 0.00003
NM_003072.5(SMARCA4):c.1286C>T (p.Ala429Val) rs569715577 0.00003
NM_003072.5(SMARCA4):c.1908C>T (p.Ala636=) rs548456029 0.00003
NM_003072.5(SMARCA4):c.223-7C>G rs762146990 0.00003
NM_003072.5(SMARCA4):c.2532T>C (p.Phe844=) rs779431261 0.00003
NM_003072.5(SMARCA4):c.2574G>A (p.Thr858=) rs760653330 0.00003
NM_003072.5(SMARCA4):c.2974-4G>A rs766593089 0.00003
NM_003072.5(SMARCA4):c.3066C>T (p.Ser1022=) rs149111403 0.00003
NM_003072.5(SMARCA4):c.3150C>T (p.Tyr1050=) rs143160246 0.00003
NM_003072.5(SMARCA4):c.3918C>T (p.Ile1306=) rs773151387 0.00003
NM_003072.5(SMARCA4):c.3952-13C>A rs374611879 0.00003
NM_003072.5(SMARCA4):c.4249A>G (p.Ser1417Gly) rs373390083 0.00003
NM_003072.5(SMARCA4):c.4271C>T (p.Pro1424Leu) rs760654888 0.00003
NM_003072.5(SMARCA4):c.4826T>C (p.Leu1609Pro) rs755493468 0.00003
NM_003072.5(SMARCA4):c.727G>A (p.Gly243Ser) rs545634451 0.00003
NM_003072.5(SMARCA4):c.778A>C (p.Met260Leu) rs1064795842 0.00003
NM_003072.5(SMARCA4):c.1024A>G (p.Met342Val) rs878854196 0.00002
NM_003072.5(SMARCA4):c.1074G>A (p.Pro358=) rs374167170 0.00002
NM_003072.5(SMARCA4):c.1212C>G (p.Leu404=) rs182329193 0.00002
NM_003072.5(SMARCA4):c.1968T>C (p.Asp656=) rs750161079 0.00002
NM_003072.5(SMARCA4):c.2617-4G>A rs201020451 0.00002
NM_003072.5(SMARCA4):c.3324C>A (p.Leu1108=) rs750792793 0.00002
NM_003072.5(SMARCA4):c.3873+6del rs751936459 0.00002
NM_003072.5(SMARCA4):c.4513G>A (p.Val1505Met) rs372893370 0.00002
NM_003072.5(SMARCA4):c.4872G>A (p.Pro1624=) rs182644267 0.00002
NM_003072.5(SMARCA4):c.720G>A (p.Pro240=) rs1023059961 0.00002
NM_003072.5(SMARCA4):c.859+5G>A rs367781236 0.00002
NM_003072.5(SMARCA4):c.887C>T (p.Thr296Met) rs781066262 0.00002
NM_001387283.1(SMARCA4):c.4202C>T (p.Ala1401Val) rs771008873 0.00001
NM_001387283.1(SMARCA4):c.4216C>T (p.Arg1406Cys) rs587778686 0.00001
NM_003072.5(SMARCA4):c.1098C>G (p.Ile366Met) rs532242119 0.00001
NM_003072.5(SMARCA4):c.1135G>A (p.Ala379Thr) rs769660597 0.00001
NM_003072.5(SMARCA4):c.1155T>G (p.Leu385=) rs201099398 0.00001
NM_003072.5(SMARCA4):c.1158A>G (p.Glu386=) rs1268876800 0.00001
NM_003072.5(SMARCA4):c.1341G>A (p.Leu447=) rs147558972 0.00001
NM_003072.5(SMARCA4):c.2021C>T (p.Pro674Leu) rs747463080 0.00001
NM_003072.5(SMARCA4):c.2124-5C>A rs182602020 0.00001
NM_003072.5(SMARCA4):c.2286G>A (p.Leu762=) rs1600208852 0.00001
NM_003072.5(SMARCA4):c.2347C>T (p.Leu783=) rs762449855 0.00001
NM_003072.5(SMARCA4):c.2355G>A (p.Lys785=) rs547236594 0.00001
NM_003072.5(SMARCA4):c.2439-12T>G rs1462368992 0.00001
NM_003072.5(SMARCA4):c.3546+9G>A rs544551192 0.00001
NM_003072.5(SMARCA4):c.3846C>T (p.Asn1282=) rs776413354 0.00001
NM_003072.5(SMARCA4):c.4026G>A (p.Glu1342=) rs1029640674 0.00001
NM_003072.5(SMARCA4):c.4152G>A (p.Thr1384=) rs372620534 0.00001
NM_003072.5(SMARCA4):c.4273A>T (p.Thr1425Ser) rs1060502082 0.00001
NM_003072.5(SMARCA4):c.458C>T (p.Pro153Leu) rs539710314 0.00001
NM_003072.5(SMARCA4):c.4834G>A (p.Gly1612Ser) rs372319442 0.00001
NM_003072.5(SMARCA4):c.4876G>A (p.Val1626Met) rs757412819 0.00001
NM_003072.5(SMARCA4):c.4885G>A (p.Asp1629Asn) rs374648988 0.00001
NM_003072.5(SMARCA4):c.731C>T (p.Pro244Leu) rs587778683 0.00001
NM_003072.5(SMARCA4):c.952G>A (p.Val318Ile) rs758091260 0.00001
NM_003072.5(SMARCA4):c.95C>T (p.Pro32Leu) rs910095001 0.00001
NM_003072.5(SMARCA4):c.963C>T (p.Ala321=) rs371214843 0.00001
NM_003072.5(SMARCA4):c.973G>A (p.Val325Met) rs1361910224 0.00001
NM_001387283.1(SMARCA4):c.4187A>G (p.Asp1396Gly) rs186823009
NM_001387283.1(SMARCA4):c.4245G>C (p.Gln1415His) rs1600446366
NM_001387283.1(SMARCA4):c.4255C>T (p.Arg1419Cys) rs1056234449
NM_001387283.1(SMARCA4):c.4261T>C (p.Ser1421Pro) rs776681345
NM_003072.5(SMARCA4):c.*9A>T rs369766168
NM_003072.5(SMARCA4):c.1118+7del rs774132615
NM_003072.5(SMARCA4):c.1351C>T (p.Arg451Cys) rs2086534839
NM_003072.5(SMARCA4):c.1408C>T (p.Gln470Ter) rs1555757738
NM_003072.5(SMARCA4):c.1757_1760del (p.Lys586fs) rs1342399494
NM_003072.5(SMARCA4):c.1944-12C>A rs149763341
NM_003072.5(SMARCA4):c.1959G>A (p.Pro653=) rs757029847
NM_003072.5(SMARCA4):c.2022G>A (p.Pro674=) rs539865173
NM_003072.5(SMARCA4):c.2109G>T (p.Ala703=) rs376562928
NM_003072.5(SMARCA4):c.223-4G>A rs763383326
NM_003072.5(SMARCA4):c.2275-3C>T rs117611401
NM_003072.5(SMARCA4):c.229G>T (p.Glu77Ter) rs1568419675
NM_003072.5(SMARCA4):c.234C>A (p.Ser78=) rs1568419701
NM_003072.5(SMARCA4):c.2576C>T (p.Thr859Met) rs281875226
NM_003072.5(SMARCA4):c.2580C>T (p.Tyr860=) rs776649185
NM_003072.5(SMARCA4):c.2653C>T (p.Arg885Cys) rs281875227
NM_003072.5(SMARCA4):c.2656A>G (p.Met886Val) rs2146416371
NM_003072.5(SMARCA4):c.2704G>A (p.Val902Met) rs1600278307
NM_003072.5(SMARCA4):c.2716C>T (p.Arg906Cys) rs898406635
NM_003072.5(SMARCA4):c.2763C>T (p.Leu921=) rs574844383
NM_003072.5(SMARCA4):c.2777A>G (p.Asn926Ser) rs1555778797
NM_003072.5(SMARCA4):c.2851G>A (p.Gly951Arg) rs1060499936
NM_003072.5(SMARCA4):c.2896C>T (p.Arg966Trp) rs1227826852
NM_003072.5(SMARCA4):c.2933G>A (p.Arg978Gln) rs1180804356
NM_003072.5(SMARCA4):c.2936G>A (p.Arg979Gln)
NM_003072.5(SMARCA4):c.3127C>T (p.Arg1043Trp) rs770014321
NM_003072.5(SMARCA4):c.3229C>T (p.Arg1077Ter) rs2146541571
NM_003072.5(SMARCA4):c.3557C>T (p.Ala1186Val) rs1600388982
NM_003072.5(SMARCA4):c.3608G>A (p.Arg1203His) rs770680174
NM_003072.5(SMARCA4):c.3645A>G (p.Leu1215=) rs1555784535
NM_003072.5(SMARCA4):c.3986G>A (p.Arg1329His) rs1555785361
NM_003072.5(SMARCA4):c.407C>T (p.Ala136Val) rs535299273
NM_003072.5(SMARCA4):c.4170+17C>T rs145829956
NM_003072.5(SMARCA4):c.4171-1861A>G rs771462690
NM_003072.5(SMARCA4):c.4636-10C>A rs878854228
NM_003072.5(SMARCA4):c.4665G>A (p.Ser1555=) rs1201916615
NM_003072.5(SMARCA4):c.4773G>A (p.Arg1591=) rs568650875
NM_003072.5(SMARCA4):c.53C>T (p.Pro18Leu) rs1060502087
NM_003072.5(SMARCA4):c.696TGGCCC[4] (p.229GP[9]) rs372601826
NM_003072.5(SMARCA4):c.696TGGCCC[5] (p.229GP[10]) rs372601826
NM_003072.5(SMARCA4):c.708_719dup (p.229GP[10]) rs1555753680
NM_003072.5(SMARCA4):c.708_731dup (p.229GP[12]) rs1555753690
NM_003072.5(SMARCA4):c.722_733del (p.229GP[6]) rs568390760
NM_003072.5(SMARCA4):c.791G>C (p.Gly264Ala) rs797045988
NM_003072.5(SMARCA4):c.923C>T (p.Thr308Met) rs770322996
NM_003072.5(SMARCA4):c.924G>A (p.Thr308=) rs944736912
NM_003072.5(SMARCA4):c.942G>A (p.Ala314=) rs567283924
NM_003072.5(SMARCA4):c.969G>T (p.Ser323=) rs770128715

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