ClinVar Miner

List of variants reported as pathogenic for Coffin-Siris syndrome 6

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 262
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HGVS dbSNP gnomAD frequency
NM_001374828.1(ARID1B):c.1987-29738G>T rs201653711 0.00003
NM_003073.5(SMARCB1):c.1130G>A (p.Arg377His) rs387906812 0.00001
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 12q12(chr12:46150008-46321670)x1
GRCh37/hg19 12q12(chr12:46168172-46304719)x1
GRCh37/hg19 6q25.3(chr6:156858484-157854806)
GRCh37/hg19 6q25.3(chr6:157133792-157495187)
GRCh37/hg19 6q25.3(chr6:157341357-157455697)
GRCh37/hg19 6q25.3(chr6:157377242-157431665)
GRCh38/hg38 6q25.1-25.3(chr6:150905553-158511926)x1
GRCh38/hg38 6q25.3(chr6:157036218-157111403)x1
NC_000012.11:g.46125066_46230365del
NC_000012.12:g.45690000_45750000del
NM_001374828.1(ARID1B):c.1293_1308del (p.Gly434fs)
NM_001374828.1(ARID1B):c.1293_1311del (p.Gly434fs) rs943407609
NM_001374828.1(ARID1B):c.1451dup (p.Phe485fs) rs1554248082
NM_001374828.1(ARID1B):c.1492del (p.Ala498fs) rs1417035592
NM_001374828.1(ARID1B):c.1560C>G (p.Tyr520Ter) rs2114999746
NM_001374828.1(ARID1B):c.1574del (p.Ser525fs) rs2115000174
NM_001374828.1(ARID1B):c.1629_1647del (p.Gly544fs) rs1779004027
NM_001374828.1(ARID1B):c.1638_1647del (p.Ala547fs) rs1131691339
NM_001374828.1(ARID1B):c.1641_1651del (p.Gln550fs) rs1131691706
NM_001374828.1(ARID1B):c.1648C>T (p.Gln550Ter)
NM_001374828.1(ARID1B):c.1649_1659del (p.Gln550fs) rs1085307818
NM_001374828.1(ARID1B):c.1732C>T (p.Gln578Ter) rs1554248236
NM_001374828.1(ARID1B):c.1767del (p.Gly590fs) rs1289149988
NM_001374828.1(ARID1B):c.1861C>T (p.Gln621Ter) rs1057518951
NM_001374828.1(ARID1B):c.1867C>T (p.Gln623Ter) rs1554256703
NM_001374828.1(ARID1B):c.1870C>T (p.Gln624Ter) rs754167205
NM_001374828.1(ARID1B):c.1940del (p.Gly647fs)
NM_001374828.1(ARID1B):c.2038C>T (p.Gln680Ter) rs1554265271
NM_001374828.1(ARID1B):c.2051dup (p.Tyr684Ter) rs1554265275
NM_001374828.1(ARID1B):c.2058del (p.Gln686fs) rs2128210848
NM_001374828.1(ARID1B):c.2107C>T (p.Gln703Ter) rs1554265316
NM_001374828.1(ARID1B):c.2109dup (p.Ser704fs) rs1554265319
NM_001374828.1(ARID1B):c.2113C>T (p.Gln705Ter) rs387907142
NM_001374828.1(ARID1B):c.2170C>T (p.Gln724Ter) rs1554270809
NM_001374828.1(ARID1B):c.2221_2222dup (p.Gln741fs)
NM_001374828.1(ARID1B):c.2248-2A>G rs2128462015
NM_001374828.1(ARID1B):c.2287G>T (p.Glu763Ter) rs1554294593
NM_001374828.1(ARID1B):c.2359C>T (p.Gln787Ter) rs753933273
NM_001374828.1(ARID1B):c.2400del (p.Ser800fs) rs1583280152
NM_001374828.1(ARID1B):c.2411dup (p.Ser806fs) rs1554294674
NM_001374828.1(ARID1B):c.2452C>T (p.Gln818Ter) rs869312712
NM_001374828.1(ARID1B):c.2458C>T (p.Arg820Ter) rs797045272
NM_001374828.1(ARID1B):c.2468dup (p.Ile824fs) rs1554294698
NM_001374828.1(ARID1B):c.2572C>T (p.Gln858Ter) rs1554298232
NM_001374828.1(ARID1B):c.2603_2606del (p.Arg868fs) rs1085307695
NM_001374828.1(ARID1B):c.2675dup (p.Gln893fs) rs1554301230
NM_001374828.1(ARID1B):c.2677dup (p.Gln893fs) rs1583368813
NM_001374828.1(ARID1B):c.2762G>T (p.Gly921Val) rs2128633891
NM_001374828.1(ARID1B):c.2773A>T (p.Arg925Ter) rs1554226001
NM_001374828.1(ARID1B):c.2851C>T (p.Gln951Ter)
NM_001374828.1(ARID1B):c.2902C>T (p.Arg968Ter) rs794727977
NM_001374828.1(ARID1B):c.3061C>T (p.Gln1021Ter)
NM_001374828.1(ARID1B):c.3101del (p.Phe1034fs) rs2128290268
NM_001374828.1(ARID1B):c.3126del (p.Met1043fs) rs1791374798
NM_001374828.1(ARID1B):c.3163_3167dup (p.Ser1056fs)
NM_001374828.1(ARID1B):c.3230_3235+7del rs1583438967
NM_001374828.1(ARID1B):c.3235+2T>A
NM_001374828.1(ARID1B):c.3247_3248del (p.Leu1083fs) rs2128303803
NM_001374828.1(ARID1B):c.3261del (p.Met1087fs)
NM_001374828.1(ARID1B):c.3277A>T (p.Lys1093Ter) rs902091666
NM_001374828.1(ARID1B):c.3312dup (p.Glu1105fs) rs1791918216
NM_001374828.1(ARID1B):c.3345G>A (p.Lys1115=) rs1583451360
NM_001374828.1(ARID1B):c.3345G>C (p.Lys1115Asn) rs1583451360
NM_001374828.1(ARID1B):c.3532del (p.Glu1178fs)
NM_001374828.1(ARID1B):c.3592C>T (p.Arg1198Ter) rs387907144
NM_001374828.1(ARID1B):c.3597C>G (p.Tyr1199Ter) rs1562328526
NM_001374828.1(ARID1B):c.3673C>T (p.Arg1225Ter) rs387907141
NM_001374828.1(ARID1B):c.3692_3693del (p.Lys1231fs) rs876657380
NM_001374828.1(ARID1B):c.3714+1G>A rs1554231278
NM_001374828.1(ARID1B):c.3714+2T>G rs1404726383
NM_001374828.1(ARID1B):c.3799C>T (p.Gln1267Ter) rs1554231836
NM_001374828.1(ARID1B):c.3813C>G (p.Tyr1271Ter)
NM_001374828.1(ARID1B):c.3819del (p.Phe1273fs) rs1554231845
NM_001374828.1(ARID1B):c.3827del (p.Glu1276fs) rs2128325440
NM_001374828.1(ARID1B):c.3904C>T (p.Gln1302Ter) rs1554231904
NM_001374828.1(ARID1B):c.3917del (p.Pro1306fs) rs1562331655
NM_001374828.1(ARID1B):c.3937C>T (p.Gln1313Ter) rs1554232919
NM_001374828.1(ARID1B):c.3946C>T (p.Gln1316Ter) rs1554232925
NM_001374828.1(ARID1B):c.3955dup (p.Gln1319fs) rs1289067120
NM_001374828.1(ARID1B):c.4001dup (p.Pro1335fs) rs1554232959
NM_001374828.1(ARID1B):c.4058+1G>C rs1057518691
NM_001374828.1(ARID1B):c.4106C>A (p.Ser1369Ter) rs772973856
NM_001374828.1(ARID1B):c.4147_4149delinsAG (p.Tyr1383fs) rs1554233122
NM_001374828.1(ARID1B):c.4150C>T (p.Gln1384Ter) rs1182325800
NM_001374828.1(ARID1B):c.4215del (p.Phe1405fs) rs2128339990
NM_001374828.1(ARID1B):c.4263del (p.Gly1422fs) rs1583491381
NM_001374828.1(ARID1B):c.4267C>T (p.Gln1423Ter) rs1554234341
NM_001374828.1(ARID1B):c.4288C>T (p.Gln1430Ter) rs387907140
NM_001374828.1(ARID1B):c.4299C>A (p.Tyr1433Ter) rs1583491515
NM_001374828.1(ARID1B):c.4378C>T (p.Arg1460Ter) rs773740590
NM_001374828.1(ARID1B):c.4383-1G>A rs886044620
NM_001374828.1(ARID1B):c.4395del (p.Pro1464_Tyr1465insTer)
NM_001374828.1(ARID1B):c.4400dup (p.Gln1468fs)
NM_001374828.1(ARID1B):c.4407T>A (p.Tyr1469Ter) rs748363079
NM_001374828.1(ARID1B):c.4478del (p.Pro1493fs) rs2128366725
NM_001374828.1(ARID1B):c.4479+1G>T rs1554235041
NM_001374828.1(ARID1B):c.4479G>A (p.Pro1493=) rs797045277
NM_001374828.1(ARID1B):c.4488del (p.Lys1496fs)
NM_001374828.1(ARID1B):c.4509C>G (p.Tyr1503Ter) rs377021700
NM_001374828.1(ARID1B):c.4522A>T (p.Lys1508Ter) rs1554235505
NM_001374828.1(ARID1B):c.4552C>T (p.Gln1518Ter) rs1554235541
NM_001374828.1(ARID1B):c.4642dup (p.Tyr1548fs) rs879253746
NM_001374828.1(ARID1B):c.4663_4670dup (p.Pro1558fs) rs1794053879
NM_001374828.1(ARID1B):c.4794C>G (p.Tyr1598Ter) rs1562345819
NM_001374828.1(ARID1B):c.4804C>T (p.Gln1602Ter)
NM_001374828.1(ARID1B):c.4870dup (p.Val1624fs) rs2128374526
NM_001374828.1(ARID1B):c.4905G>A (p.Trp1635Ter) rs1554235834
NM_001374828.1(ARID1B):c.4911dup (p.His1638fs)
NM_001374828.1(ARID1B):c.4921C>T (p.Gln1641Ter) rs1554235841
NM_001374828.1(ARID1B):c.4968_4969del (p.Arg1657fs)
NM_001374828.1(ARID1B):c.4991_5000del (p.Gln1664fs) rs876657382
NM_001374828.1(ARID1B):c.5189_5194delinsAGGCT (p.Thr1730fs)
NM_001374828.1(ARID1B):c.5218C>T (p.Gln1740Ter) rs1554236027
NM_001374828.1(ARID1B):c.5239C>T (p.Arg1747Ter) rs1554236040
NM_001374828.1(ARID1B):c.5258del (p.Asp1753fs) rs1562347066
NM_001374828.1(ARID1B):c.5263+1G>T rs2128377544
NM_001374828.1(ARID1B):c.5281dup (p.Arg1761fs) rs1794276185
NM_001374828.1(ARID1B):c.5365del (p.Ser1789fs) rs2128385522
NM_001374828.1(ARID1B):c.5425dup (p.Tyr1809fs) rs797045279
NM_001374828.1(ARID1B):c.5496del (p.Ala1833fs)
NM_001374828.1(ARID1B):c.5520del (p.Lys1841fs) rs797045280
NM_001374828.1(ARID1B):c.5522del (p.Lys1841fs) rs797045281
NM_001374828.1(ARID1B):c.5636_5639del (p.Glu1879fs) rs1583513256
NM_001374828.1(ARID1B):c.5698A>T (p.Lys1900Ter) rs387907143
NM_001374828.1(ARID1B):c.5707C>T (p.Gln1903Ter) rs750447037
NM_001374828.1(ARID1B):c.5763_5766del (p.Phe1921fs) rs1554237269
NM_001374828.1(ARID1B):c.5773C>T (p.Arg1925Ter) rs797045282
NM_001374828.1(ARID1B):c.5826G>A (p.Trp1942Ter) rs1554237335
NM_001374828.1(ARID1B):c.5867_5872delinsC (p.His1956fs)
NM_001374828.1(ARID1B):c.5916dup (p.Ser1974fs) rs35441529
NM_001374828.1(ARID1B):c.5939_5942del (p.Lys1980fs) rs886041706
NM_001374828.1(ARID1B):c.6001del (p.Asp2001fs) rs876657381
NM_001374828.1(ARID1B):c.6028del (p.Ala2010fs) rs1794490994
NM_001374828.1(ARID1B):c.6072dup (p.Lys2025Ter) rs886041878
NM_001374828.1(ARID1B):c.6094del (p.Gln2032fs) rs2128394676
NM_001374828.1(ARID1B):c.6145C>T (p.Arg2049Ter) rs1554237658
NM_001374828.1(ARID1B):c.6199C>T (p.Arg2067Ter) rs1028186690
NM_001374828.1(ARID1B):c.6236C>G (p.Ser2079Ter) rs2128395778
NM_001374828.1(ARID1B):c.6334_6335del (p.Lys2112fs) rs1554237785
NM_001374828.1(ARID1B):c.6337C>T (p.Arg2113Ter) rs797045283
NM_001374828.1(ARID1B):c.6377dup (p.Val2128fs) rs2128396622
NM_001374828.1(ARID1B):c.6410G>A (p.Trp2137Ter) rs1554237850
NM_001374828.1(ARID1B):c.6469C>T (p.Gln2157Ter) rs869312697
NM_001374828.1(ARID1B):c.6497dup (p.Ser2166fs) rs2128397334
NM_001374828.1(ARID1B):c.6608_6609del (p.Arg2203fs) rs1794549840
NM_001374828.1(ARID1B):c.6623_6650dup (p.Asn2217_Asn2218insProLeuTer) rs1554237992
NM_001374828.1(ARID1B):c.6624_6625del (p.Leu2209_Cys2210insTer) rs886040958
NM_001374828.1(ARID1B):c.6691C>T (p.Gln2231Ter) rs1554238035
NM_001374828.1(ARID1B):c.6751C>T (p.Arg2251Ter) rs1554238072
NM_001374828.1(ARID1B):c.6762del (p.Met2255fs)
NM_001374828.1(ARID1B):c.6773dup (p.Leu2258fs)
NM_001374828.1(ARID1B):c.6832_6842del (p.Ser2278fs) rs876657379
NM_001374828.1(ARID1B):c.6880C>T (p.Gln2294Ter)
NM_001374828.1(ARID1B):c.6896del (p.Gln2299fs) rs1583518354
NM_001374828.1(ARID1B):c.6898dup (p.His2300fs) rs1794570475
NM_001374828.1(ARID1B):c.6924del (p.Leu2310fs)
NM_001374828.1(ARID1B):c.6935del (p.Pro2312fs) rs2128399165
NM_001374828.1(ARID1B):c.7052C>G (p.Ser2351Ter) rs1794583960
NM_001374828.1(ARID1B):c.7069del (p.Leu2357fs) rs1562355401
NM_003072.5(SMARCA4):c.1633AAG[1] (p.Lys546del) rs876657378
NM_003072.5(SMARCA4):c.1675G>A (p.Glu559Lys) rs1600082188
NM_003072.5(SMARCA4):c.2475G>T (p.Trp825Cys) rs2146360458
NM_003072.5(SMARCA4):c.2576C>T (p.Thr859Met) rs281875226
NM_003072.5(SMARCA4):c.2653C>T (p.Arg885Cys) rs281875227
NM_003072.5(SMARCA4):c.2683C>T (p.Gln895Ter) rs2146417384
NM_003072.5(SMARCA4):c.2761C>T (p.Leu921Phe) rs281875228
NM_003072.5(SMARCA4):c.2851G>A (p.Gly951Arg) rs1060499936
NM_003072.5(SMARCA4):c.2936G>A (p.Arg979Gln)
NM_003072.5(SMARCA4):c.3032T>C (p.Met1011Thr) rs281875229
NM_003072.5(SMARCA4):c.3127C>T (p.Arg1043Trp) rs770014321
NM_003072.5(SMARCA4):c.3469C>G (p.Arg1157Gly) rs281875230
NM_003072.5(SMARCA4):c.4171-1789C>T rs2075455200
NM_003073.5(SMARCB1):c.1066_1067del (p.Leu356fs) rs1555881563
NM_003073.5(SMARCB1):c.1085AGA[2] (p.Lys364del) rs875989800
NM_003073.5(SMARCB1):c.1087A>G (p.Lys363Glu) rs797045989
NM_003073.5(SMARCB1):c.110G>A (p.Arg37His) rs398122368
NM_003073.5(SMARCB1):c.1121G>A (p.Arg374Gln) rs1057517825
NM_003079.5(SMARCE1):c.218A>C (p.Tyr73Ser) rs387906857
NM_003079.5(SMARCE1):c.218A>G (p.Tyr73Cys) rs387906857
NM_003079.5(SMARCE1):c.237+1G>T rs1426841589
NM_003108.4(SOX11):c.1286G>A (p.Trp429Ter) rs1057518672
NM_003108.4(SOX11):c.139G>A (p.Gly47Ser)
NM_003108.4(SOX11):c.146T>A (p.Ile49Asn)
NM_003108.4(SOX11):c.148A>C (p.Lys50Gln)
NM_003108.4(SOX11):c.150G>C (p.Lys50Asn)
NM_003108.4(SOX11):c.170T>C (p.Met57Thr) rs2103276340
NM_003108.4(SOX11):c.176G>A (p.Trp59Ter)
NM_003108.4(SOX11):c.178T>C (p.Ser60Pro) rs587777480
NM_003108.4(SOX11):c.226A>G (p.Asn76Asp) rs1665660543
NM_003108.4(SOX11):c.250G>C (p.Gly84Arg)
NM_003108.4(SOX11):c.299G>C (p.Arg100Pro) rs1064794628
NM_003108.4(SOX11):c.337T>C (p.Tyr113His)
NM_003108.4(SOX11):c.347A>G (p.Tyr116Cys) rs587777479
NM_003108.4(SOX11):c.353A>C (p.Tyr118Ser) rs1572216329
NM_003108.4(SOX11):c.700G>T (p.Glu234Ter) rs780122780
NM_003108.4(SOX11):c.791C>A (p.Ser264Ter) rs1553327954
NM_003108.4(SOX11):c.820A>T (p.Lys274Ter)
NM_003108.4(SOX11):c.87C>A (p.Cys29Ter)
NM_006015.6(ARID1A):c.1015del (p.Ala339fs)
NM_006015.6(ARID1A):c.1113del (p.Gln372fs) rs875989848
NM_006015.6(ARID1A):c.1348C>T (p.Gln450Ter) rs1557591264
NM_006015.6(ARID1A):c.1602C>A (p.Tyr534Ter) rs781090386
NM_006015.6(ARID1A):c.1642C>T (p.Gln548Ter) rs2124789497
NM_006015.6(ARID1A):c.1850C>A (p.Ser617Ter) rs2124792461
NM_006015.6(ARID1A):c.2122C>T (p.Gln708Ter) rs2124056600
NM_006015.6(ARID1A):c.2758C>T (p.Gln920Ter) rs387906845
NM_006015.6(ARID1A):c.2879-1G>A rs1570607996
NM_006015.6(ARID1A):c.3058A>T (p.Arg1020Trp) rs2124086560
NM_006015.6(ARID1A):c.3196C>T (p.Gln1066Ter) rs2081053546
NM_006015.6(ARID1A):c.31_56del (p.Ser11fs) rs797045262
NM_006015.6(ARID1A):c.3230C>A (p.Ala1077Glu) rs1030084592
NM_006015.6(ARID1A):c.3679G>T (p.Glu1227Ter) rs875989849
NM_006015.6(ARID1A):c.394del (p.Val132fs) rs797045263
NM_006015.6(ARID1A):c.4003C>T (p.Arg1335Ter) rs387906846
NM_006015.6(ARID1A):c.4087C>T (p.Gln1363Ter)
NM_006015.6(ARID1A):c.5164C>T (p.Arg1722Ter) rs1485978447
NM_006015.6(ARID1A):c.5531G>A (p.Trp1844Ter) rs2081169212
NM_006015.6(ARID1A):c.5693del (p.Pro1898fs) rs1570621899
NM_006015.6(ARID1A):c.5940_6000del (p.Val1982fs) rs2124144295
NM_006015.6(ARID1A):c.5965C>T (p.Arg1989Ter) rs879255270
NM_006015.6(ARID1A):c.6134_6138del (p.Lys2045fs) rs1557620758
NM_006015.6(ARID1A):c.750_771dup (p.Ser258fs) rs1557570794
NM_006015.6(ARID1A):c.921_940del (p.Tyr308fs) rs1553146165
NM_006015.6(ARID1A):c.98_107del (p.Glu33fs) rs2124740134
NM_006268.5(DPF2):c.827G>T (p.Cys276Phe) rs1555031372
NM_152641.3:c.(705+1_706-1)_(1330+1_1331-1)del
NM_152641.4(ARID2):c.1028T>A (p.Leu343Ter) rs796052242
NM_152641.4(ARID2):c.1121-1G>A rs1943242602
NM_152641.4(ARID2):c.118dup (p.Val40fs) rs2137959683
NM_152641.4(ARID2):c.1262_1265dup (p.Tyr423fs) rs2138132429
NM_152641.4(ARID2):c.1331-1G>C rs2138136386
NM_152641.4(ARID2):c.1334_1338del (p.Met445fs)
NM_152641.4(ARID2):c.156_157del (p.Arg53fs) rs2137959875
NM_152641.4(ARID2):c.156del (p.Arg53fs) rs1555139310
NM_152641.4(ARID2):c.1580+1G>A rs2138150784
NM_152641.4(ARID2):c.1784_1785del (p.His595fs) rs1943504725
NM_152641.4(ARID2):c.2114del (p.Ser705fs) rs1592118927
NM_152641.4(ARID2):c.2377C>T (p.Gln793Ter) rs2138162523
NM_152641.4(ARID2):c.2401_2402del (p.Met801fs) rs2138162739
NM_152641.4(ARID2):c.2458C>T (p.Gln820Ter) rs1343039962
NM_152641.4(ARID2):c.2521C>T (p.Gln841Ter) rs1555154946
NM_152641.4(ARID2):c.2536del (p.Val846fs) rs796052240
NM_152641.4(ARID2):c.2758C>T (p.Gln920Ter) rs1555155026
NM_152641.4(ARID2):c.2767C>T (p.Gln923Ter)
NM_152641.4(ARID2):c.3301_3302insAGGT (p.Val1101fs) rs2138170893
NM_152641.4(ARID2):c.3411_3412del (p.Gly1139fs) rs1555155252
NM_152641.4(ARID2):c.3814C>T (p.Arg1272Ter) rs2138174785
NM_152641.4(ARID2):c.400dup (p.Gln134fs) rs2138082983
NM_152641.4(ARID2):c.4210dup (p.Gln1404fs) rs2138177931
NM_152641.4(ARID2):c.4255_4256del (p.Pro1419fs) rs2138178306
NM_152641.4(ARID2):c.4318C>T (p.Gln1440Ter) rs772995852
NM_152641.4(ARID2):c.4441del (p.His1481fs) rs796052241
NM_152641.4(ARID2):c.4540_4541delinsGAA (p.Thr1514fs) rs2138180455
NM_152641.4(ARID2):c.4640_4659del (p.Ala1547fs) rs1943579551
NM_152641.4(ARID2):c.4732C>T (p.Gln1578Ter) rs2138181920
NM_152641.4(ARID2):c.5026C>T (p.Gln1676Ter) rs1944306056
NM_152641.4(ARID2):c.5346T>G (p.Tyr1782Ter) rs1592145571
NM_152641.4(ARID2):c.675G>A (p.Trp225Ter)
NM_152641.4(ARID2):c.869_881del (p.Ala290fs)

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