ClinVar Miner

List of variants reported as benign for Coffin-Siris syndrome by Genome-Nilou Lab

Included ClinVar conditions (25):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 169
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HGVS dbSNP gnomAD frequency
NM_001330288.2(SMARCC2):c.708+46A>C rs773644 0.93552
NM_001374828.1(ARID1B):c.2382G>A (p.Ala794=) rs3734441 0.52321
NM_001374828.1(ARID1B):c.2248-35G>A rs3734440 0.46405
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_001374828.1(ARID1B):c.4383-7A>G rs112318565 0.14423
NM_003072.5(SMARCA4):c.1944-19G>T rs74942410 0.06144
NM_006015.6(ARID1A):c.3199-95A>G rs76490152 0.06005
NM_006015.6(ARID1A):c.2420-18G>C rs34681611 0.05742
NM_006015.6(ARID1A):c.1351-22A>C rs41303629 0.05601
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_003076.5(SMARCD1):c.178-9C>T rs2307082 0.03749
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_001374828.1(ARID1B):c.5001G>A (p.Pro1667=) rs61738955 0.02808
NM_001374828.1(ARID1B):c.4893T>C (p.His1631=) rs61747988 0.01682
NM_001374828.1(ARID1B):c.4864A>T (p.Met1622Leu) rs34870395 0.01518
NM_001374828.1(ARID1B):c.1927A>G (p.Ile643Val) rs17318151 0.01456
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_001374828.1(ARID1B):c.3828G>A (p.Glu1276=) rs61745451 0.00966
NM_003072.5(SMARCA4):c.930C>A (p.Arg310=) rs146141457 0.00837
NM_003072.5(SMARCA4):c.4768+15G>C rs113131294 0.00813
NM_001374828.1(ARID1B):c.6291C>T (p.Ile2097=) rs112703040 0.00799
NM_001374828.1(ARID1B):c.2629C>T (p.Pro877Ser) rs114201726 0.00727
NM_001374828.1(ARID1B):c.5576A>C (p.Glu1859Ala) rs149518409 0.00727
NM_006015.6(ARID1A):c.5114A>G (p.Asn1705Ser) rs61756316 0.00698
NM_001374828.1(ARID1B):c.2137-3T>A rs116661275 0.00673
NM_001374828.1(ARID1B):c.3106G>A (p.Gly1036Ser) rs34786733 0.00590
NM_003072.5(SMARCA4):c.222+14T>C rs112825147 0.00548
NM_003072.5(SMARCA4):c.1419+7T>C rs112977340 0.00546
NM_001374828.1(ARID1B):c.612A>G (p.Gln204=) rs78253128 0.00509
NM_003072.5(SMARCA4):c.2388C>T (p.Leu796=) rs28997580 0.00508
NM_001374828.1(ARID1B):c.985G>A (p.Gly329Ser) rs375160616 0.00475
NM_006015.6(ARID1A):c.6586C>T (p.Leu2196=) rs149633292 0.00468
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.3547-11T>C rs190104006 0.00408
NM_003072.5(SMARCA4):c.1119-12C>T rs113870824 0.00387
NM_001374828.1(ARID1B):c.3235+6C>T rs148976215 0.00384
NM_003072.5(SMARCA4):c.2001+8T>G rs112549813 0.00384
NM_003072.5(SMARCA4):c.1140C>T (p.His380=) rs114594206 0.00372
NM_006015.6(ARID1A):c.5001G>A (p.Pro1667=) rs116540923 0.00363
NM_001374828.1(ARID1B):c.4965C>T (p.Ile1655=) rs150010654 0.00340
NM_006015.6(ARID1A):c.2541C>A (p.Ile847=) rs151274586 0.00329
NM_001374828.1(ARID1B):c.3768C>T (p.Thr1256=) rs142391292 0.00312
NM_001374828.1(ARID1B):c.2187C>T (p.Pro729=) rs146240413 0.00310
NM_001374828.1(ARID1B):c.4812T>G (p.Pro1604=) rs141783755 0.00304
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_001374828.1(ARID1B):c.6171C>T (p.Ile2057=) rs142499766 0.00260
NM_001374828.1(ARID1B):c.318G>A (p.Ala106=) rs533182720 0.00257
NM_001374828.1(ARID1B):c.1791+19G>C rs374013482 0.00249
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_006015.6(ARID1A):c.1188C>T (p.Gly396=) rs61749356 0.00229
NM_001374828.1(ARID1B):c.1194A>C (p.Gly398=) rs112474841 0.00209
NM_003072.5(SMARCA4):c.*1G>T rs76118382 0.00205
NM_003072.5(SMARCA4):c.4768+10G>A rs201665695 0.00200
NM_006015.6(ARID1A):c.318C>T (p.Asn106=) rs551186176 0.00196
NM_003072.5(SMARCA4):c.4227A>G (p.Ser1409=) rs61761958 0.00191
NM_001374828.1(ARID1B):c.3681C>T (p.Tyr1227=) rs61736269 0.00189
NM_006015.6(ARID1A):c.135C>T (p.Ala45=) rs892415319 0.00168
NM_003072.5(SMARCA4):c.3045C>T (p.Gly1015=) rs56101423 0.00163
NM_001374828.1(ARID1B):c.3714+11G>A rs368322992 0.00159
NM_003072.5(SMARCA4):c.3663G>A (p.Lys1221=) rs61761957 0.00158
NM_006015.6(ARID1A):c.1351-82C>T rs41303627 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_006015.6(ARID1A):c.5336A>G (p.Glu1779Gly) rs140946580 0.00112
NM_001374828.1(ARID1B):c.2654C>T (p.Ser885Leu) rs150140314 0.00108
NM_001374828.1(ARID1B):c.963C>T (p.Ala321=) rs533517668 0.00107
NM_006015.6(ARID1A):c.4869G>A (p.Ser1623=) rs148936933 0.00106
NM_003072.5(SMARCA4):c.3891C>G (p.Pro1297=) rs149562732 0.00103
NM_006015.6(ARID1A):c.4152C>T (p.His1384=) rs149908828 0.00100
NM_006015.6(ARID1A):c.3716-7C>T rs150792057 0.00090
NM_006015.6(ARID1A):c.472C>T (p.Pro158Ser) rs567246585 0.00088
NM_001374828.1(ARID1B):c.5468A>G (p.Glu1823Gly) rs149841055 0.00081
NM_003072.5(SMARCA4):c.3927C>T (p.His1309=) rs148495641 0.00079
NM_006015.6(ARID1A):c.373G>A (p.Gly125Ser) rs536658556 0.00076
NM_001374828.1(ARID1B):c.2548G>A (p.Ala850Thr) rs147784000 0.00071
NM_006015.6(ARID1A):c.162C>T (p.Ala54=) rs1001634270 0.00068
NM_001374828.1(ARID1B):c.3072G>C (p.Ala1024=) rs148749268 0.00067
NM_003072.5(SMARCA4):c.223-5C>T rs376775933 0.00066
NM_001374828.1(ARID1B):c.1191C>A (p.Gly397=) rs184815562 0.00064
NM_006015.6(ARID1A):c.3792C>T (p.Ala1264=) rs142429183 0.00061
NM_006015.6(ARID1A):c.3762C>T (p.Gly1254=) rs138814830 0.00060
NM_001374828.1(ARID1B):c.1534A>G (p.Met512Val) rs199948752 0.00058
NM_006015.6(ARID1A):c.1716G>A (p.Thr572=) rs147554664 0.00055
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.708T>C (p.Pro236=) rs62639303 0.00044
NM_003072.5(SMARCA4):c.3738C>T (p.Phe1246=) rs139943231 0.00039
NM_006015.6(ARID1A):c.393G>C (p.Gly131=) rs768590350 0.00039
NM_001374828.1(ARID1B):c.3188A>T (p.Gln1063Leu) rs139620600 0.00038
NM_006015.6(ARID1A):c.5076C>T (p.Asn1692=) rs149468118 0.00038
NM_003072.5(SMARCA4):c.2973+14G>A rs372877301 0.00034
NM_006015.6(ARID1A):c.4779G>T (p.Arg1593=) rs140978841 0.00033
NM_006015.6(ARID1A):c.4879C>G (p.Pro1627Ala) rs151074395 0.00032
NM_006015.6(ARID1A):c.4053C>T (p.Gly1351=) rs200122106 0.00031
NM_003072.5(SMARCA4):c.4179G>A (p.Glu1393=) rs201879930 0.00030
NM_006015.6(ARID1A):c.6659A>G (p.Asn2220Ser) rs139576809 0.00029
NM_006015.6(ARID1A):c.1266C>T (p.Tyr422=) rs144272459 0.00027
NM_006015.6(ARID1A):c.1131C>T (p.Thr377=) rs532591067 0.00026
NM_001374828.1(ARID1B):c.3997C>G (p.Leu1333Val) rs138482029 0.00025
NM_001374828.1(ARID1B):c.7023C>T (p.His2341=) rs183572405 0.00023
NM_003072.5(SMARCA4):c.4512C>T (p.Pro1504=) rs145435121 0.00023
NM_006015.6(ARID1A):c.2139A>G (p.Pro713=) rs779283100 0.00023
NM_003072.5(SMARCA4):c.3558G>A (p.Ala1186=) rs140322802 0.00022
NM_003072.5(SMARCA4):c.747C>T (p.Tyr249=) rs756224211 0.00021
NM_003072.5(SMARCA4):c.1099C>T (p.Leu367=) rs372379166 0.00017
NM_006015.6(ARID1A):c.759C>G (p.Pro253=) rs747694475 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_001374828.1(ARID1B):c.1881G>A (p.Pro627=) rs142939952 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_006015.6(ARID1A):c.2988+36G>A rs372175005 0.00011
NM_003072.5(SMARCA4):c.4011C>T (p.Leu1337=) rs377720149 0.00010
NM_003072.5(SMARCA4):c.4293C>T (p.Arg1431=) rs149670457 0.00009
NM_003072.5(SMARCA4):c.4344C>T (p.Ala1448=) rs200087760 0.00008
NM_006015.6(ARID1A):c.4751A>G (p.Gln1584Arg) rs558739370 0.00008
NM_003072.5(SMARCA4):c.3669C>T (p.Asn1223=) rs28997581 0.00007
NM_006015.6(ARID1A):c.268A>G (p.Ser90Gly) rs752026201 0.00007
NM_001374828.1(ARID1B):c.4674G>A (p.Pro1558=) rs566865279 0.00006
NM_003072.5(SMARCA4):c.761-5T>C rs543702763 0.00006
NM_006015.6(ARID1A):c.2123A>C (p.Gln708Pro) rs367889013 0.00006
NM_003072.5(SMARCA4):c.1803G>A (p.Pro601=) rs751166438 0.00005
NM_006015.6(ARID1A):c.5311C>T (p.Pro1771Ser) rs187631645 0.00005
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_006015.6(ARID1A):c.3870G>A (p.Thr1290=) rs753683399 0.00004
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.2617-4G>A rs201020451 0.00002
NM_003072.5(SMARCA4):c.4872G>A (p.Pro1624=) rs182644267 0.00002
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.4251C>T (p.Ser1417=) rs377057304 0.00001
NM_003072.5(SMARCA4):c.54G>A (p.Pro18=) rs529632222 0.00001
NM_006015.6(ARID1A):c.6709G>A (p.Ala2237Thr) rs746165075 0.00001
NM_001374828.1(ARID1B):c.2137-3dup rs541477699
NM_001374828.1(ARID1B):c.3330C>T (p.Pro1110=) rs752231248
NM_001374828.1(ARID1B):c.954C>T (p.Gly318=) rs745740327
NM_003072.5(SMARCA4):c.120C>T (p.His40=) rs375884151
NM_003072.5(SMARCA4):c.1944-12C>T rs149763341
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.4458C>T (p.Ile1486=) rs550796495
NM_003072.5(SMARCA4):c.459G>A (p.Pro153=) rs372931195
NM_003072.5(SMARCA4):c.4773G>A (p.Arg1591=) rs568650875
NM_003072.5(SMARCA4):c.942G>A (p.Ala314=) rs567283924
NM_006015.6(ARID1A):c.114GGC[6] (p.Ala45dup) rs587779737
NM_006015.6(ARID1A):c.2252-97A>T rs113319329
NM_006015.6(ARID1A):c.3978GCA[9] (p.Gln1334dup) rs374564889
NM_006015.6(ARID1A):c.4994-20G>C rs113553273
NM_006015.6(ARID1A):c.5287GAA[4] (p.Glu1767del) rs753766136
NM_006015.6(ARID1A):c.5717G>A (p.Arg1906Gln) rs41303631
NM_006015.6(ARID1A):c.581C>T (p.Pro194Leu) rs764060744

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