ClinVar Miner

Variants in gene SMARCA4 with conflicting interpretations "benign" and "likely benign"

Submission 1 (benign) minimum review status: Submission 1 (benign) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 104
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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.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.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.4170+16G>A rs191812860 0.00019
NM_003072.5(SMARCA4):c.2085C>T (p.Ser695=) rs149342641 0.00018
NM_003072.5(SMARCA4):c.1099C>T (p.Leu367=) rs372379166 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.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.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.1287G>A (p.Ala429=) rs143600641 0.00006
NM_003072.5(SMARCA4):c.1344C>T (p.Arg448=) rs140328531 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.1209G>A (p.Glu403=) rs200159174 0.00004
NM_003072.5(SMARCA4):c.1782A>G (p.Gly594=) rs369362739 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.1044G>A (p.Lys348=) rs566093923 0.00003
NM_003072.5(SMARCA4):c.1908C>T (p.Ala636=) rs548456029 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.3918C>T (p.Ile1306=) rs773151387 0.00003
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.4872G>A (p.Pro1624=) rs182644267 0.00002
NM_003072.5(SMARCA4):c.1155T>G (p.Leu385=) rs201099398 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.963C>T (p.Ala321=) rs371214843 0.00001
NM_001387283.1(SMARCA4):c.4187A>G (p.Asp1396Gly) rs186823009
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.2580C>T (p.Tyr860=) rs776649185
NM_003072.5(SMARCA4):c.2763C>T (p.Leu921=) rs574844383
NM_003072.5(SMARCA4):c.4170+17C>T rs145829956
NM_003072.5(SMARCA4):c.4773G>A (p.Arg1591=) rs568650875
NM_003072.5(SMARCA4):c.722_733del (p.229GP[6]) rs568390760
NM_003072.5(SMARCA4):c.942G>A (p.Ala314=) rs567283924

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