ClinVar Miner

List of variants reported as benign for connective and soft tissue neoplasm by Invitae

Included ClinVar conditions (55):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 194
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HGVS dbSNP gnomAD frequency
NM_002609.4(PDGFRB):c.3137+4A>G rs246391 0.38064
NM_002609.4(PDGFRB):c.3252A>G (p.Pro1084=) rs246388 0.36918
NM_003072.5(SMARCA4):c.1524T>C (p.His508=) rs7935 0.32239
NM_003072.5(SMARCA4):c.4887T>C (p.Asp1629=) rs7275 0.28266
NM_002609.4(PDGFRB):c.2601A>G (p.Leu867=) rs246395 0.26470
NM_003072.5(SMARCA4):c.4425-5330G>T rs1122608 0.17470
NM_002609.4(PDGFRB):c.3090C>T (p.Pro1030=) rs2228440 0.09078
NM_002609.4(PDGFRB):c.85A>T (p.Ile29Phe) rs17110944 0.07088
NM_003072.5(SMARCA4):c.1944-19G>T rs74942410 0.06144
NM_003072.5(SMARCA4):c.4053C>T (p.Asp1351=) rs28997582 0.04598
NM_003072.5(SMARCA4):c.4584C>T (p.Asp1528=) rs9105 0.04127
NM_003072.5(SMARCA4):c.356-14A>G rs111447132 0.03865
NM_003072.5(SMARCA4):c.1413G>A (p.Lys471=) rs17001073 0.03431
NM_003072.5(SMARCA4):c.2123+12C>T rs17001090 0.03024
NM_003072.5(SMARCA4):c.1509A>G (p.Ala503=) rs17001075 0.03015
NM_002609.4(PDGFRB):c.1391C>T (p.Thr464Met) rs74943037 0.02595
NM_002609.4(PDGFRB):c.1854G>A (p.Thr618=) rs56072663 0.02433
NM_002609.4(PDGFRB):c.1453G>A (p.Glu485Lys) rs41287110 0.01976
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_002609.4(PDGFRB):c.1761G>A (p.Leu587=) rs56078873 0.00930
NM_002609.4(PDGFRB):c.102C>T (p.Val34=) rs17708515 0.00869
NM_003072.5(SMARCA4):c.930C>A (p.Arg310=) rs146141457 0.00837
NM_002609.4(PDGFRB):c.1033C>T (p.Pro345Ser) rs2229558 0.00834
NM_003072.5(SMARCA4):c.4768+15G>C rs113131294 0.00813
NM_002609.4(PDGFRB):c.1149G>C (p.Leu383=) rs2228439 0.00793
NM_003072.5(SMARCA4):c.4768+16G>T rs151265814 0.00684
NM_002609.4(PDGFRB):c.365-4G>T rs139448702 0.00583
NM_003072.5(SMARCA4):c.2002-19T>C rs111899994 0.00578
NM_003072.5(SMARCA4):c.222+14T>C rs112825147 0.00548
NM_003072.5(SMARCA4):c.1419+7T>C rs112977340 0.00546
NM_002609.4(PDGFRB):c.3119G>T (p.Gly1040Val) rs149417689 0.00523
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_002609.4(PDGFRB):c.1376G>A (p.Arg459His) rs149274963 0.00426
NM_002609.4(PDGFRB):c.1393C>T (p.Leu465=) rs116171826 0.00425
NM_003072.5(SMARCA4):c.3547-11T>C rs190104006 0.00408
NM_003072.5(SMARCA4):c.1119-12C>T rs113870824 0.00387
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.1140C>T (p.His380=) rs114594206 0.00372
NM_002609.4(PDGFRB):c.590G>A (p.Arg197Lys) rs116642123 0.00302
NM_003072.5(SMARCA4):c.1740A>G (p.Lys580=) rs114391904 0.00291
NM_003072.5(SMARCA4):c.589C>T (p.Pro197Ser) rs200664441 0.00291
NM_002609.4(PDGFRB):c.946G>A (p.Val316Met) rs41287112 0.00287
NM_002609.4(PDGFRB):c.3287C>T (p.Ala1096Val) rs114435947 0.00259
NM_002609.4(PDGFRB):c.945C>T (p.Tyr315=) rs56069016 0.00247
NM_003072.5(SMARCA4):c.2275-3C>A rs117611401 0.00243
NM_003072.5(SMARCA4):c.2757C>T (p.Pro919=) rs113955216 0.00241
NM_002609.4(PDGFRB):c.2523G>A (p.Lys841=) rs41287108 0.00236
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_002609.4(PDGFRB):c.1872T>C (p.His624=) rs141371542 0.00166
NM_003072.5(SMARCA4):c.3045C>T (p.Gly1015=) rs56101423 0.00163
NM_002609.4(PDGFRB):c.1505G>A (p.Arg502Gln) rs148974733 0.00159
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_002609.4(PDGFRB):c.12G>A (p.Pro4=) rs138641101 0.00128
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.4171-1737T>A rs199543083 0.00107
NM_003072.5(SMARCA4):c.3891C>G (p.Pro1297=) rs149562732 0.00103
NM_002609.4(PDGFRB):c.2844G>A (p.Arg948=) rs55647240 0.00093
NM_002609.4(PDGFRB):c.2502C>T (p.Ile834=) rs143375423 0.00088
NM_002609.4(PDGFRB):c.714C>T (p.Ile238=) rs41287114 0.00087
NM_003072.5(SMARCA4):c.3927C>T (p.His1309=) rs148495641 0.00079
NM_003072.5(SMARCA4):c.223-5C>T rs376775933 0.00066
NM_002609.4(PDGFRB):c.2616G>A (p.Pro872=) rs148709288 0.00054
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.4171-13A>G rs201298366 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.3738C>T (p.Phe1246=) rs139943231 0.00039
NM_003072.5(SMARCA4):c.1791T>G (p.Pro597=) rs141806282 0.00038
NM_002609.4(PDGFRB):c.2889C>T (p.Gly963=) rs139623802 0.00037
NM_003072.5(SMARCA4):c.2973+14G>A rs372877301 0.00034
NM_003072.5(SMARCA4):c.1593+14T>A rs201395711 0.00033
NM_002609.4(PDGFRB):c.1119G>A (p.Ser373=) rs200225593 0.00032
NM_003072.5(SMARCA4):c.355+11G>A rs368761916 0.00032
NM_003072.5(SMARCA4):c.4179G>A (p.Glu1393=) rs201879930 0.00030
NM_002609.4(PDGFRB):c.2463C>T (p.Asn821=) rs78336563 0.00029
NM_002609.4(PDGFRB):c.1223C>G (p.Ser408Cys) rs200203294 0.00024
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.4171-1858T>A rs201309716 0.00018
NM_002609.4(PDGFRB):c.3276G>A (p.Ser1092=) rs774197688 0.00017
NM_003072.5(SMARCA4):c.1099C>T (p.Leu367=) rs372379166 0.00017
NM_003072.5(SMARCA4):c.2064G>A (p.Lys688=) rs368941893 0.00017
NM_002609.4(PDGFRB):c.1108C>T (p.Arg370Cys) rs200684708 0.00016
NM_003072.5(SMARCA4):c.2860-14T>C rs191509662 0.00016
NM_003072.5(SMARCA4):c.441C>T (p.Ser147=) rs201372858 0.00016
NM_002609.4(PDGFRB):c.3270G>A (p.Pro1090=) rs183852315 0.00015
NM_003072.5(SMARCA4):c.2739G>A (p.Pro913=) rs183695281 0.00014
NM_003072.5(SMARCA4):c.3952-20G>A rs369464237 0.00014
NM_002609.4(PDGFRB):c.1368-15C>T rs777941214 0.00013
NM_003072.5(SMARCA4):c.2409T>C (p.Asn803=) rs199634608 0.00012
NM_003072.5(SMARCA4):c.1557C>T (p.Asn519=) rs2288845 0.00011
NM_003072.5(SMARCA4):c.2460C>T (p.Tyr820=) rs372410282 0.00010
NM_003072.5(SMARCA4):c.3168+9G>A rs369201773 0.00010
NM_003072.5(SMARCA4):c.4011C>T (p.Leu1337=) rs377720149 0.00010
NM_002609.4(PDGFRB):c.1083C>T (p.Ser361=) rs146064275 0.00009
NM_002609.4(PDGFRB):c.334G>A (p.Glu112Lys) rs749932332 0.00009
NM_002609.4(PDGFRB):c.486G>A (p.Glu162=) rs147141808 0.00009
NM_003072.5(SMARCA4):c.4293C>T (p.Arg1431=) rs149670457 0.00009
NM_002609.4(PDGFRB):c.2053C>T (p.Arg685Cys) rs763239423 0.00008
NM_002609.4(PDGFRB):c.2126G>A (p.Arg709His) rs759436020 0.00006
NM_003072.5(SMARCA4):c.3383-5G>A rs762528243 0.00006
NM_002609.4(PDGFRB):c.1437C>T (p.Asn479=) rs371550567 0.00005
NM_003072.5(SMARCA4):c.1803G>A (p.Pro601=) rs751166438 0.00005
NM_002609.4(PDGFRB):c.3102C>T (p.Asp1034=) rs569140859 0.00004
NM_003072.5(SMARCA4):c.1209G>A (p.Glu403=) rs200159174 0.00004
NM_003072.5(SMARCA4):c.2199C>T (p.Ala733=) rs538629432 0.00004
NM_003072.5(SMARCA4):c.3765G>A (p.Glu1255=) rs183060137 0.00004
NM_001387283.1(SMARCA4):c.4187A>T (p.Asp1396Val) rs186823009 0.00003
NM_002609.4(PDGFRB):c.1539T>C (p.Ala513=) rs150562879 0.00003
NM_002609.4(PDGFRB):c.3030T>G (p.Thr1010=) rs182175304 0.00003
NM_003072.5(SMARCA4):c.222+19G>A rs759047953 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_002609.4(PDGFRB):c.1450G>A (p.Glu484Lys) rs765124485 0.00002
NM_003072.5(SMARCA4):c.2123+13G>A rs373148510 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_002609.4(PDGFRB):c.2587-5T>C rs758524703 0.00001
NM_003072.5(SMARCA4):c.2347C>T (p.Leu783=) rs762449855 0.00001
NM_003072.5(SMARCA4):c.2637T>C (p.Ile879=) rs369795542 0.00001
NM_003072.5(SMARCA4):c.4152G>A (p.Thr1384=) rs372620534 0.00001
NM_003072.5(SMARCA4):c.4251C>T (p.Ser1417=) rs377057304 0.00001
NM_003072.5(SMARCA4):c.54G>A (p.Pro18=) rs529632222 0.00001
NM_002609.4(PDGFRB):c.1063C>T (p.Arg355Cys)
NM_002609.4(PDGFRB):c.1089C>T (p.Gly363=)
NM_002609.4(PDGFRB):c.1127+7A>G
NM_002609.4(PDGFRB):c.1155C>T (p.Arg385=)
NM_002609.4(PDGFRB):c.11C>T (p.Pro4Leu)
NM_002609.4(PDGFRB):c.1368-14G>A
NM_002609.4(PDGFRB):c.1438G>A (p.Val480Met)
NM_002609.4(PDGFRB):c.1553C>T (p.Thr518Met)
NM_002609.4(PDGFRB):c.1579+10C>T rs571420039
NM_002609.4(PDGFRB):c.1896C>T (p.Ala632=)
NM_002609.4(PDGFRB):c.1913-16C>G
NM_002609.4(PDGFRB):c.1938A>G (p.Gln646=)
NM_002609.4(PDGFRB):c.1989C>T (p.Asn663=)
NM_002609.4(PDGFRB):c.2129C>T (p.Pro710Leu)
NM_002609.4(PDGFRB):c.2164G>T (p.Val722Phe) rs142689325
NM_002609.4(PDGFRB):c.2212G>A (p.Gly738Ser)
NM_002609.4(PDGFRB):c.2243C>T (p.Ser748Leu)
NM_002609.4(PDGFRB):c.2276G>A (p.Gly759Glu)
NM_002609.4(PDGFRB):c.2280C>T (p.Asp760=)
NM_002609.4(PDGFRB):c.2464-19C>G
NM_002609.4(PDGFRB):c.250G>A (p.Val84Met)
NM_002609.4(PDGFRB):c.2904+15G>A
NM_002609.4(PDGFRB):c.2971C>T (p.Arg991Cys)
NM_002609.4(PDGFRB):c.3018C>T (p.Ser1006=)
NM_002609.4(PDGFRB):c.3275C>T (p.Ser1092Leu)
NM_002609.4(PDGFRB):c.3288G>A (p.Ala1096=)
NM_002609.4(PDGFRB):c.344G>A (p.Arg115Gln)
NM_002609.4(PDGFRB):c.645C>T (p.Asn215=)
NM_002609.4(PDGFRB):c.843C>T (p.Ala281=)
NM_002609.4(PDGFRB):c.882G>A (p.Thr294=)
NM_002609.4(PDGFRB):c.938G>A (p.Ser313Asn)
NM_002609.4(PDGFRB):c.971C>T (p.Thr324Ile)
NM_003072.5(SMARCA4):c.1098C>T (p.Ile366=) rs532242119
NM_003072.5(SMARCA4):c.120C>T (p.His40=) rs375884151
NM_003072.5(SMARCA4):c.1594-13del
NM_003072.5(SMARCA4):c.1594-13dup
NM_003072.5(SMARCA4):c.1594-18dup rs778456116
NM_003072.5(SMARCA4):c.1813-4dup rs1864896196
NM_003072.5(SMARCA4):c.1944-12C>T rs149763341
NM_003072.5(SMARCA4):c.1944-5del
NM_003072.5(SMARCA4):c.1944-5dup rs1555768671
NM_003072.5(SMARCA4):c.223-4G>A rs763383326
NM_003072.5(SMARCA4):c.2275-17C>G rs201752124
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.2860-8del rs2146451474
NM_003072.5(SMARCA4):c.2973+19dup
NM_003072.5(SMARCA4):c.3547-3dup rs2075055829
NM_003072.5(SMARCA4):c.4170+17C>T rs145829956
NM_003072.5(SMARCA4):c.4171-1861del rs551217010
NM_003072.5(SMARCA4):c.4458C>T (p.Ile1486=) rs550796495
NM_003072.5(SMARCA4):c.459G>A (p.Pro153=) rs372931195
NM_003072.5(SMARCA4):c.4636-17del
NM_003072.5(SMARCA4):c.4768+16del rs770591183
NM_003072.5(SMARCA4):c.4768+16dup rs770591183
NM_003072.5(SMARCA4):c.4773G>A (p.Arg1591=) rs568650875
NM_003072.5(SMARCA4):c.4911+16del
NM_003072.5(SMARCA4):c.4911+16dup rs769996403
NM_003072.5(SMARCA4):c.942G>A (p.Ala314=) rs567283924

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