ClinVar Miner

List of variants studied for Coffin-Siris syndrome 1

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 197
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HGVS dbSNP
46,XX,der(6)(q25.1,q28)dn.seq[GRCh37/hg19]der(6)(6pter->6q25.2(+)(154768571)::q25.2(+)(154778901),q25.2(+)154778992::q25.2(-)(154774048),q25.2(-)(154768571)::q25.2(-)(154768571),q25.1(-)(~151443183-151443483))dn
GRCh37/hg19 6q25.3(chr6:156858484-157854806)
GRCh37/hg19 6q25.3(chr6:157133792-157495187)
GRCh38/hg38 6q25.3(chr6:157179172-157184916)x1
NM_001128844.2(SMARCA4):c.2275-3C>A rs117611401
NM_001128849.2(SMARCA4):c.*25C>T rs189436737
NM_001128849.2(SMARCA4):c.*299C>T rs772399601
NM_001128849.2(SMARCA4):c.*327T>C rs146968124
NM_001128849.2(SMARCA4):c.*346G>A rs754087248
NM_001128849.2(SMARCA4):c.*401G>A rs559071626
NM_001128849.2(SMARCA4):c.*464G>T rs886054156
NM_001128849.2(SMARCA4):c.-32+11C>T rs886054150
NM_001128849.2(SMARCA4):c.-43C>T rs574982898
NM_001128849.2(SMARCA4):c.-72C>T rs559144002
NM_001128849.2(SMARCA4):c.1076G>A (p.Arg359Gln) rs148530368
NM_001128849.2(SMARCA4):c.1099C>T (p.Leu367=) rs372379166
NM_001128849.2(SMARCA4):c.1104G>A (p.Gln368=) rs751242644
NM_001128849.2(SMARCA4):c.1114T>C (p.Tyr372His) rs140192268
NM_001128849.2(SMARCA4):c.1119-12C>T rs113870824
NM_001128849.2(SMARCA4):c.120C>T (p.His40=) rs375884151
NM_001128849.2(SMARCA4):c.1413G>A (p.Lys471=) rs17001073
NM_001128849.2(SMARCA4):c.1419+7T>C rs112977340
NM_001128849.2(SMARCA4):c.1419+8C>T rs115492175
NM_001128849.2(SMARCA4):c.1419+9C>T rs374635008
NM_001128849.2(SMARCA4):c.147G>A (p.Pro49=) rs758438795
NM_001128849.2(SMARCA4):c.1509A>G (p.Ala503=) rs17001075
NM_001128849.2(SMARCA4):c.1524T>C (p.His508=) rs7935
NM_001128849.2(SMARCA4):c.1557C>T (p.Asn519=) rs2288845
NM_001128849.2(SMARCA4):c.1740A>G (p.Lys580=) rs114391904
NM_001128849.2(SMARCA4):c.1761+6C>T rs886054152
NM_001128849.2(SMARCA4):c.1791T>G (p.Pro597=) rs141806282
NM_001128849.2(SMARCA4):c.1944-12C>T rs149763341
NM_001128849.2(SMARCA4):c.2001+8T>G rs112549813
NM_001128849.2(SMARCA4):c.2085C>T (p.Ser695=) rs149342641
NM_001128849.2(SMARCA4):c.2123+12C>T rs17001090
NM_001128849.2(SMARCA4):c.222+14T>C rs112825147
NM_001128849.2(SMARCA4):c.223-5C>T rs376775933
NM_001128849.2(SMARCA4):c.2232G>C (p.Lys744Asn) rs886054153
NM_001128849.2(SMARCA4):c.2388C>T (p.Leu796=) rs28997580
NM_001128849.2(SMARCA4):c.2565C>T (p.Val855=) rs775610559
NM_001128849.2(SMARCA4):c.2616+14G>T rs886054154
NM_001128849.2(SMARCA4):c.2757C>T (p.Pro919=) rs113955216
NM_001128849.2(SMARCA4):c.2832C>T (p.Asn944=) rs764939990
NM_001128849.2(SMARCA4):c.2973+14G>A rs372877301
NM_001128849.2(SMARCA4):c.3045C>T (p.Gly1015=) rs56101423
NM_001128849.2(SMARCA4):c.3066C>T (p.Ser1022=) rs149111403
NM_001128849.2(SMARCA4):c.3435C>T (p.Pro1145=) rs138764713
NM_001128849.2(SMARCA4):c.3547-11T>C rs190104006
NM_001128849.2(SMARCA4):c.355+9C>T rs767575401
NM_001128849.2(SMARCA4):c.3558G>A (p.Ala1186=) rs140322802
NM_001128849.2(SMARCA4):c.356-14A>G rs111447132
NM_001128849.2(SMARCA4):c.3669C>T (p.Asn1223=) rs28997581
NM_001128849.2(SMARCA4):c.3738C>T (p.Phe1246=) rs139943231
NM_001128849.2(SMARCA4):c.3775-12A>G rs770956288
NM_001128849.2(SMARCA4):c.3975C>T (p.Arg1325=) rs144803359
NM_001128849.2(SMARCA4):c.4011C>T (p.Leu1337=) rs377720149
NM_001128849.2(SMARCA4):c.4053C>T (p.Asp1351=) rs28997582
NM_001128849.2(SMARCA4):c.4110C>T (p.Gly1370=) rs780735376
NM_001128849.2(SMARCA4):c.4152G>A (p.Thr1384=) rs372620534
NM_001128849.2(SMARCA4):c.4171-9T>A rs201309716
NM_001128849.2(SMARCA4):c.4256G>A (p.Arg1419His) rs775807962
NM_001128849.2(SMARCA4):c.4267-13A>G rs201298366
NM_001128849.2(SMARCA4):c.4328G>A (p.Arg1443Gln) rs886054155
NM_001128849.2(SMARCA4):c.4368G>A (p.Pro1456=) rs114882905
NM_001128849.2(SMARCA4):c.4389C>T (p.Arg1463=) rs149670457
NM_001128849.2(SMARCA4):c.442G>A (p.Gly148Arg) rs138689221
NM_001128849.2(SMARCA4):c.4590C>T (p.Tyr1530=) rs139505007
NM_001128849.2(SMARCA4):c.459G>A (p.Pro153=) rs372931195
NM_001128849.2(SMARCA4):c.4608C>T (p.Pro1536=) rs145435121
NM_001128849.2(SMARCA4):c.4680C>T (p.Asp1560=) rs9105
NM_001128849.2(SMARCA4):c.4731+12G>A rs34930626
NM_001128849.2(SMARCA4):c.4788C>T (p.Ile1596=) rs746415437
NM_001128849.2(SMARCA4):c.4864+15G>C rs113131294
NM_001128849.2(SMARCA4):c.4968G>A (p.Pro1656=) rs182644267
NM_001128849.2(SMARCA4):c.4983T>C (p.Asp1661=) rs7275
NM_001128849.2(SMARCA4):c.5000A>G (p.Gln1667Arg) rs1568566518
NM_001128849.2(SMARCA4):c.584C>A (p.Pro195His) rs1568422604
NM_001128849.2(SMARCA4):c.589C>T (p.Pro197Ser) rs200664441
NM_001128849.2(SMARCA4):c.665C>T (p.Pro222Leu) rs533671711
NM_001128849.2(SMARCA4):c.747C>T (p.Tyr249=) rs756224211
NM_001128849.2(SMARCA4):c.859+7T>A rs141461778
NM_001128849.2(SMARCA4):c.915G>A (p.Pro305=) rs149573400
NM_001128849.2(SMARCA4):c.930C>A (p.Arg310=) rs146141457
NM_001128849.2(SMARCA4):c.968C>T (p.Ser323Leu) rs886054151
NM_001128849.2(SMARCA4):c.981A>C (p.Pro327=) rs547268941
NM_001346813.1(ARID1B):c.3406_3407dup (p.Pro1137fs) rs1057519009
NM_001346813.1(ARID1B):c.5602G>T (p.Glu1868Ter) rs1451259945
NM_001363725.2(ARID1B):c.-32dup rs1554294698
NM_001363725.2(ARID1B):c.-48C>T rs869312712
NM_001374820.1(ARID1B):c.1451dup (p.Phe485fs)
NM_001374820.1(ARID1B):c.1508del (p.Asn503fs)
NM_001374820.1(ARID1B):c.3326del (p.Leu1109fs)
NM_001374820.1(ARID1B):c.4143del (p.Gly1382fs)
NM_001374820.1(ARID1B):c.4179C>A (p.Tyr1393Ter)
NM_001374820.1(ARID1B):c.5104del (p.Val1702fs)
NM_001374820.1(ARID1B):c.6776del (p.Gln2259fs)
NM_001374828.1(ARID1B):c.1870C>T (p.Gln624Ter)
NM_001374828.1(ARID1B):c.2046del (p.Tyr683fs)
NM_001374828.1(ARID1B):c.2107C>T (p.Gln703Ter)
NM_001374828.1(ARID1B):c.2379_2398del (p.His793fs)
NM_001374828.1(ARID1B):c.2677dup (p.Gln893fs)
NM_003070.5(SMARCA2):c.1240G>A (p.Ala414Thr) rs1554618664
NM_003073.5(SMARCB1):c.*113C>T rs886057286
NM_003073.5(SMARCB1):c.*116dup rs397897183
NM_003073.5(SMARCB1):c.*12_*14dup rs779825754
NM_003073.5(SMARCB1):c.*15C>A rs369400289
NM_003073.5(SMARCB1):c.*17C>T rs372348692
NM_003073.5(SMARCB1):c.*279G>A rs886057287
NM_003073.5(SMARCB1):c.*293C>T rs754865420
NM_003073.5(SMARCB1):c.-107A>G rs886057284
NM_003073.5(SMARCB1):c.-115C>T rs551328283
NM_003073.5(SMARCB1):c.-117C>T rs11090285
NM_003073.5(SMARCB1):c.-148T>C rs886057283
NM_003073.5(SMARCB1):c.-149C>T rs886057282
NM_003073.5(SMARCB1):c.-157G>A rs886057281
NM_003073.5(SMARCB1):c.-17C>T rs372777519
NM_003073.5(SMARCB1):c.362+7C>T rs34746244
NM_003073.5(SMARCB1):c.607G>A (p.Ala203Thr) rs762962010
NM_003073.5(SMARCB1):c.628+13C>T rs184021903
NM_003073.5(SMARCB1):c.723C>T (p.Ile241=) rs752910574
NM_003073.5(SMARCB1):c.897G>A (p.Ser299=) rs2229354
NM_003073.5(SMARCB1):c.987-4G>C rs745773662
NM_006015.6(ARID1A):c.4003C>T (p.Arg1335Ter) rs387906846
NM_006015.6(ARID1A):c.6410C>A (p.Ala2137Asp) rs1553153771
NM_006268.5(DPF2):c.827G>T (p.Cys276Phe) rs1555031372
NM_017519.2(ARID1B):c.17G>A (p.Gly6Asp) rs1057518648
NM_017519.2(ARID1B):c.1802dup (p.Tyr601Ter) rs1554265275
NM_017519.2(ARID1B):c.1864C>T (p.Gln622Ter) rs387907142
NM_017519.2(ARID1B):c.2981_2986+7del
NM_017519.2(ARID1B):c.3057_3061del (p.Lys1020fs) rs1131692263
NM_017519.2(ARID1B):c.3284_3285del (p.Lys1095fs) rs876657380
NM_017519.2(ARID1B):c.342_344GCA[9] (p.Gln130_Gln131dup) rs587779743
NM_017519.2(ARID1B):c.3509del (p.Pro1170fs) rs1562331655
NM_017519.2(ARID1B):c.3529C>T (p.Gln1177Ter)
NM_017519.2(ARID1B):c.3593dup (p.Pro1199fs) rs1554232959
NM_017519.2(ARID1B):c.3650+1G>C rs1057518691
NM_017519.2(ARID1B):c.3880C>T (p.Gln1294Ter) rs387907140
NM_017519.2(ARID1B):c.3999T>A (p.Tyr1333Ter) rs748363079
NM_017519.2(ARID1B):c.4583_4592del (p.Gln1528fs) rs876657382
NM_017519.2(ARID1B):c.4850del (p.Asp1617fs) rs1562347066
NM_017519.2(ARID1B):c.5290A>T (p.Lys1764Ter) rs387907143
NM_017519.2(ARID1B):c.5351_5354TGTT[1] (p.Phe1785fs) rs1554237269
NM_017519.2(ARID1B):c.5527_5530AAGA[1] (p.Lys1844fs) rs886041706
NM_017519.2(ARID1B):c.5593del (p.Asp1865fs) rs876657381
NM_017519.2(ARID1B):c.6061C>T (p.Gln2021Ter) rs869312697
NM_017519.2(ARID1B):c.6215_6242dup (p.Asn2082_Val2083insProLeuTer) rs1554237992
NM_017519.2(ARID1B):c.6216_6217del (p.Leu2073_Cys2074insTer) rs886040958
NM_017519.2(ARID1B):c.6424_6434del (p.Ser2142fs) rs876657379
NM_017519.2(ARID1B):c.6434del (p.Asn2145fs) rs1562354784
NM_017519.2(ARID1B):c.6661del (p.Leu2221fs) rs1562355401
NM_020732.3(ARID1B):c.1308C>G (p.Ser436Arg)
NM_020732.3(ARID1B):c.1349_1350insAAC (p.Ser451_Gln452insThr) rs1562378653
NM_020732.3(ARID1B):c.1483C>T (p.Gln495Ter) rs1554248236
NM_020732.3(ARID1B):c.1618C>T (p.Gln540Ter) rs1554256703
NM_020732.3(ARID1B):c.1762G>T (p.Glu588Ter) rs201653711
NM_020732.3(ARID1B):c.1828C>T (p.Gln610Ter) rs1554265271
NM_020732.3(ARID1B):c.1899dup (p.Ser634fs) rs1554265319
NM_020732.3(ARID1B):c.1960C>T (p.Gln654Ter) rs1554270809
NM_020732.3(ARID1B):c.2077G>T (p.Glu693Ter) rs1554294593
NM_020732.3(ARID1B):c.2149C>T (p.Gln717Ter) rs753933273
NM_020732.3(ARID1B):c.2190del (p.Ser730fs)
NM_020732.3(ARID1B):c.2248C>T (p.Arg750Ter) rs797045272
NM_020732.3(ARID1B):c.2465dup (p.Gln823fs) rs1554301230
NM_020732.3(ARID1B):c.3135G>A (p.Lys1045=)
NM_020732.3(ARID1B):c.3223C>T (p.Arg1075Ter) rs387907144
NM_020732.3(ARID1B):c.3228C>G (p.Tyr1076Ter) rs1562328526
NM_020732.3(ARID1B):c.3304C>T (p.Arg1102Ter) rs387907141
NM_020732.3(ARID1B):c.3345+2T>G rs1404726383
NM_020732.3(ARID1B):c.3401C>G (p.Ser1134Ter)
NM_020732.3(ARID1B):c.3430C>T (p.Gln1144Ter) rs1554231836
NM_020732.3(ARID1B):c.3450del (p.Phe1150fs) rs1554231845
NM_020732.3(ARID1B):c.3586dup (p.Gln1196fs)
NM_020732.3(ARID1B):c.3737C>A (p.Ser1246Ter) rs772973856
NM_020732.3(ARID1B):c.3898C>T (p.Gln1300Ter) rs1554234341
NM_020732.3(ARID1B):c.4009C>T (p.Arg1337Ter) rs773740590
NM_020732.3(ARID1B):c.4110G>A (p.Pro1370=) rs797045277
NM_020732.3(ARID1B):c.4140C>G (p.Tyr1380Ter) rs377021700
NM_020732.3(ARID1B):c.4336C>T (p.Gln1446Ter) rs797045278
NM_020732.3(ARID1B):c.4536G>A (p.Trp1512Ter) rs1554235834
NM_020732.3(ARID1B):c.4870C>T (p.Arg1624Ter) rs1554236040
NM_020732.3(ARID1B):c.5025+1G>A rs1057518984
NM_020732.3(ARID1B):c.5026-2A>C rs1562350940
NM_020732.3(ARID1B):c.5056dup (p.Tyr1686fs) rs797045279
NM_020732.3(ARID1B):c.5151del (p.Lys1718fs) rs797045280
NM_020732.3(ARID1B):c.5153del (p.Lys1718fs) rs797045281
NM_020732.3(ARID1B):c.5404C>T (p.Arg1802Ter) rs797045282
NM_020732.3(ARID1B):c.5482G>A (p.Glu1828Lys) rs1451259945
NM_020732.3(ARID1B):c.5680C>T (p.Pro1894Ser) rs774509236
NM_020732.3(ARID1B):c.5737C>T (p.His1913Tyr)
NM_020732.3(ARID1B):c.5776C>T (p.Arg1926Ter) rs1554237658
NM_020732.3(ARID1B):c.5830C>T (p.Arg1944Ter) rs1028186690
NM_020732.3(ARID1B):c.5968C>T (p.Arg1990Ter) rs797045283
NM_020732.3(ARID1B):c.6382C>T (p.Arg2128Ter) rs1554238072
NM_020732.3(ARID1B):c.6526C>T (p.Gln2176Ter) rs758120346
NM_020732.3(ARID1B):c.850C>T (p.Gln284Ter)
NM_020732.3(ARID1B):c.980G>C (p.Gly327Ala) rs1455234951
NM_175863.2:c.4699dup

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