ClinVar Miner

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

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 204
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HGVS dbSNP gnomAD frequency
NM_001374828.1(ARID1B):c.5851G>A (p.Glu1951Lys) rs1451259945 0.00004
NM_003072.5(SMARCA4):c.3922C>T (p.Arg1308Trp) rs587779750 0.00001
GRCh38/hg38 6q25.3(chr6:157179172-157184916)x1
NM_001374828.1(ARID1B):c.1293_1317del (p.Ala433fs) rs1778944605
NM_001374828.1(ARID1B):c.1293_1320dup (p.Tyr441fs)
NM_001374828.1(ARID1B):c.1462_1466del (p.Phe488fs)
NM_001374828.1(ARID1B):c.1629_1647del (p.Gly544fs) rs1779004027
NM_001374828.1(ARID1B):c.1789C>T (p.Gln597Ter) rs1779032666
NM_001374828.1(ARID1B):c.1811del (p.Met604fs)
NM_001374828.1(ARID1B):c.1853dup (p.His619fs)
NM_001374828.1(ARID1B):c.1987-29742G>A rs1554261846
NM_001374828.1(ARID1B):c.2025C>G (p.Tyr675Ter) rs773640553
NM_001374828.1(ARID1B):c.2046del (p.Tyr683fs) rs1582908829
NM_001374828.1(ARID1B):c.2073dup (p.His692fs) rs2128210922
NM_001374828.1(ARID1B):c.2078del (p.Leu693fs) rs2128210949
NM_001374828.1(ARID1B):c.2379_2398del (p.His793fs) rs1583280025
NM_001374828.1(ARID1B):c.2480C>T (p.Ala827Val)
NM_001374828.1(ARID1B):c.2491G>C (p.Gly831Arg)
NM_001374828.1(ARID1B):c.2581G>A (p.Gly861Ser) rs1057518045
NM_001374828.1(ARID1B):c.2582-2A>C rs1057524160
NM_001374828.1(ARID1B):c.2603_2606del (p.Arg868fs) rs1085307695
NM_001374828.1(ARID1B):c.266G>A (p.Gly89Asp) rs1057518648
NM_001374828.1(ARID1B):c.2714del (p.Asn905fs)
NM_001374828.1(ARID1B):c.2742_2750delinsAC (p.Met914fs)
NM_001374828.1(ARID1B):c.2762-3_2762-2delinsAG
NM_001374828.1(ARID1B):c.2912C>A (p.Ser971Ter)
NM_001374828.1(ARID1B):c.2956del (p.Ser985_Met986insTer) rs2128634579
NM_001374828.1(ARID1B):c.3287del (p.Leu1096fs) rs1583451146
NM_001374828.1(ARID1B):c.3306_3310del (p.Lys1103fs) rs1131692263
NM_001374828.1(ARID1B):c.3581_3602del (p.Leu1194fs) rs1792478147
NM_001374828.1(ARID1B):c.3589G>A (p.Asp1197Asn)
NM_001374828.1(ARID1B):c.3664dup (p.Asp1222fs) rs2128317569
NM_001374828.1(ARID1B):c.3721A>T (p.Lys1241Ter)
NM_001374828.1(ARID1B):c.3770C>G (p.Ser1257Ter) rs1583469292
NM_001374828.1(ARID1B):c.3827_3828del (p.Glu1276fs) rs2128325428
NM_001374828.1(ARID1B):c.3933del (p.Leu1312fs)
NM_001374828.1(ARID1B):c.3955dup (p.Gln1319fs) rs1289067120
NM_001374828.1(ARID1B):c.4232-1G>A
NM_001374828.1(ARID1B):c.4342C>T (p.Gln1448Ter) rs1554234402
NM_001374828.1(ARID1B):c.4479G>A (p.Pro1493=) rs797045277
NM_001374828.1(ARID1B):c.4557C>A (p.Tyr1519Ter)
NM_001374828.1(ARID1B):c.4557C>G (p.Tyr1519Ter) rs1794042593
NM_001374828.1(ARID1B):c.4638C>G (p.Tyr1546Ter)
NM_001374828.1(ARID1B):c.4647del (p.Tyr1550fs)
NM_001374828.1(ARID1B):c.4705C>T (p.Gln1569Ter) rs797045278
NM_001374828.1(ARID1B):c.4770_4771dup (p.Arg1591fs)
NM_001374828.1(ARID1B):c.4808del (p.Gly1603fs) rs2128374043
NM_001374828.1(ARID1B):c.4825C>T (p.Gln1609Ter) rs1064793482
NM_001374828.1(ARID1B):c.5047C>T (p.Gln1683Ter)
NM_001374828.1(ARID1B):c.5224del (p.Val1742fs) rs1583502875
NM_001374828.1(ARID1B):c.5264-2A>G rs1794274425
NM_001374828.1(ARID1B):c.5394+3A>C rs1794283740
NM_001374828.1(ARID1B):c.5395-1G>A
NM_001374828.1(ARID1B):c.5395-2A>C rs1562350940
NM_001374828.1(ARID1B):c.5399del (p.Ser1800fs)
NM_001374828.1(ARID1B):c.5402del (p.Gly1801fs) rs2128391037
NM_001374828.1(ARID1B):c.5417dup (p.Leu1806fs)
NM_001374828.1(ARID1B):c.5615_5616dup (p.Glu1873fs) rs2128392250
NM_001374828.1(ARID1B):c.5635G>T (p.Glu1879Ter) rs1794456297
NM_001374828.1(ARID1B):c.5719_5722del (p.Phe1907fs)
NM_001374828.1(ARID1B):c.5763_5766del (p.Phe1921fs) rs1554237269
NM_001374828.1(ARID1B):c.5825G>A (p.Trp1942Ter)
NM_001374828.1(ARID1B):c.5851G>T (p.Glu1951Ter) rs1451259945
NM_001374828.1(ARID1B):c.5896C>T (p.Arg1966Cys) rs1369594791
NM_001374828.1(ARID1B):c.5903del (p.Arg1968fs) rs2128393700
NM_001374828.1(ARID1B):c.6028del (p.Ala2010fs) rs1794490994
NM_001374828.1(ARID1B):c.6072dup (p.Lys2025Ter) rs886041878
NM_001374828.1(ARID1B):c.6103del (p.Ser2035fs)
NM_001374828.1(ARID1B):c.612_613insGCAGCAG (p.Gln205fs)
NM_001374828.1(ARID1B):c.6161dup (p.Cys2055fs)
NM_001374828.1(ARID1B):c.6224T>G (p.Val2075Gly)
NM_001374828.1(ARID1B):c.6263T>C (p.Met2088Thr) rs1583516082
NM_001374828.1(ARID1B):c.6286del (p.Val2095_Leu2096insTer)
NM_001374828.1(ARID1B):c.6359_6360del (p.Lys2120fs)
NM_001374828.1(ARID1B):c.6407G>A (p.Trp2136Ter)
NM_001374828.1(ARID1B):c.6617T>C (p.Leu2206Pro) rs1794550318
NM_001374828.1(ARID1B):c.6619G>T (p.Glu2207Ter)
NM_001374828.1(ARID1B):c.6842del (p.Asn2281fs) rs1562354784
NM_001374828.1(ARID1B):c.6873dup (p.Met2292fs) rs2128398868
NM_001374828.1(ARID1B):c.6895C>T (p.Gln2299Ter) rs758120346
NM_001374828.1(ARID1B):c.7069_7070del (p.Leu2357fs) rs1794584714
NM_003072.5(SMARCA4):c.1351C>T (p.Arg451Cys) rs2086534839
NM_003072.5(SMARCA4):c.1352G>T (p.Arg451Leu)
NM_003072.5(SMARCA4):c.1427T>G (p.Leu476Arg) rs2145937134
NM_003072.5(SMARCA4):c.1462G>A (p.Glu488Lys) rs2145938426
NM_003072.5(SMARCA4):c.1646G>T (p.Arg549Leu) rs2145970607
NM_003072.5(SMARCA4):c.1947_2001+3del
NM_003072.5(SMARCA4):c.2453G>A (p.Trp818Ter) rs2146359668
NM_003072.5(SMARCA4):c.2506-2A>G
NM_003072.5(SMARCA4):c.2525G>A (p.Arg842Gln) rs2146373452
NM_003072.5(SMARCA4):c.2647G>A (p.Gly883Ser) rs1568486679
NM_003072.5(SMARCA4):c.2653C>T (p.Arg885Cys) rs281875227
NM_003072.5(SMARCA4):c.2656A>G (p.Met886Val) rs2146416371
NM_003072.5(SMARCA4):c.2678T>G (p.Leu893Arg)
NM_003072.5(SMARCA4):c.2704G>A (p.Val902Met) rs1600278307
NM_003072.5(SMARCA4):c.2738C>T (p.Pro913Leu) rs778175819
NM_003072.5(SMARCA4):c.2747A>G (p.Asn916Ser) rs2146419846
NM_003072.5(SMARCA4):c.2777A>G (p.Asn926Ser) rs1555778797
NM_003072.5(SMARCA4):c.2851G>A (p.Gly951Arg) rs1060499936
NM_003072.5(SMARCA4):c.2936G>A (p.Arg979Gln)
NM_003072.5(SMARCA4):c.3068A>G (p.Glu1023Gly)
NM_003072.5(SMARCA4):c.3127C>T (p.Arg1043Trp) rs770014321
NM_003072.5(SMARCA4):c.3139A>C (p.Asn1047His) rs2146497910
NM_003072.5(SMARCA4):c.3476G>C (p.Gly1159Ala) rs2146600868
NM_003072.5(SMARCA4):c.3557C>T (p.Ala1186Val) rs1600388982
NM_003072.5(SMARCA4):c.3608G>A (p.Arg1203His) rs770680174
NM_003072.5(SMARCA4):c.3712T>G (p.Ser1238Ala)
NM_003072.5(SMARCA4):c.3730C>T (p.Arg1244Cys) rs2146654092
NM_003072.5(SMARCA4):c.3734C>G (p.Ala1245Gly) rs797045984
NM_003072.5(SMARCA4):c.3818A>G (p.His1273Arg) rs1600393629
NM_003072.5(SMARCA4):c.4213C>T (p.Arg1405Trp) rs1057518049
NM_003073.5(SMARCB1):c.1070C>G (p.Thr357Arg) rs1555881567
NM_003073.5(SMARCB1):c.1084_1086del (p.Glu362del) rs2146042583
NM_003073.5(SMARCB1):c.1087A>G (p.Lys363Glu) rs797045989
NM_003073.5(SMARCB1):c.1089G>T (p.Lys363Asn) rs1568963037
NM_003073.5(SMARCB1):c.1096C>G (p.Arg366Gly) rs886039520
NM_003073.5(SMARCB1):c.1096C>T (p.Arg366Cys) rs886039520
NM_003073.5(SMARCB1):c.110G>A (p.Arg37His) rs398122368
NM_003073.5(SMARCB1):c.1120C>T (p.Arg374Trp) rs1568963596
NM_003073.5(SMARCB1):c.1121G>A (p.Arg374Gln) rs1057517825
NM_003073.5(SMARCB1):c.602G>A (p.Arg201Gln) rs1555877287
NM_003073.5(SMARCB1):c.812G>A (p.Gly271Glu) rs2030318562
NM_003079.5(SMARCE1):c.276G>C (p.Lys92Asn) rs1555605795
NM_003108.4(SOX11):c.1148del (p.Gly383fs)
NM_003108.4(SOX11):c.1216del (p.Ser406fs) rs1572217107
NM_003108.4(SOX11):c.146T>A (p.Ile49Asn)
NM_003108.4(SOX11):c.146T>G (p.Ile49Ser)
NM_003108.4(SOX11):c.151C>G (p.Arg51Gly)
NM_003108.4(SOX11):c.151C>T (p.Arg51Trp) rs2103276324
NM_003108.4(SOX11):c.152G>A (p.Arg51Gln) rs2103276330
NM_003108.4(SOX11):c.152G>T (p.Arg51Leu)
NM_003108.4(SOX11):c.155C>T (p.Pro52Leu)
NM_003108.4(SOX11):c.157A>G (p.Met53Val)
NM_003108.4(SOX11):c.158T>G (p.Met53Arg)
NM_003108.4(SOX11):c.159G>A (p.Met53Ile)
NM_003108.4(SOX11):c.159G>T (p.Met53Ile)
NM_003108.4(SOX11):c.160A>G (p.Asn54Asp)
NM_003108.4(SOX11):c.167T>G (p.Phe56Cys) rs2103276337
NM_003108.4(SOX11):c.168C>G (p.Phe56Leu) rs2103276338
NM_003108.4(SOX11):c.170T>C (p.Met57Thr) rs2103276340
NM_003108.4(SOX11):c.190C>A (p.Arg64Ser)
NM_003108.4(SOX11):c.190C>T (p.Arg64Cys)
NM_003108.4(SOX11):c.191G>C (p.Arg64Pro)
NM_003108.4(SOX11):c.191G>T (p.Arg64Leu)
NM_003108.4(SOX11):c.223C>G (p.His75Asp)
NM_003108.4(SOX11):c.226A>G (p.Asn76Asp) rs1665660543
NM_003108.4(SOX11):c.239C>T (p.Ser80Phe) rs1553327809
NM_003108.4(SOX11):c.250G>A (p.Gly84Ser)
NM_003108.4(SOX11):c.259T>C (p.Trp87Arg)
NM_003108.4(SOX11):c.293del (p.Phe98fs) rs1558373252
NM_003108.4(SOX11):c.299G>C (p.Arg100Pro) rs1064794628
NM_003108.4(SOX11):c.305C>T (p.Ala102Val) rs1665661372
NM_003108.4(SOX11):c.317G>C (p.Arg106Pro)
NM_003108.4(SOX11):c.322A>G (p.Lys108Glu)
NM_003108.4(SOX11):c.326A>C (p.His109Pro)
NM_003108.4(SOX11):c.337T>C (p.Tyr113His)
NM_003108.4(SOX11):c.353A>G (p.Tyr118Cys)
NM_003108.4(SOX11):c.359C>A (p.Pro120His)
NM_003108.4(SOX11):c.359C>T (p.Pro120Leu) rs1665662335
NM_003108.4(SOX11):c.650_651insGA (p.Lys218fs) rs2103276750
NM_003108.4(SOX11):c.657C>A (p.Cys219Ter)
NM_003108.4(SOX11):c.700G>T (p.Glu234Ter) rs780122780
NM_003108.4(SOX11):c.820A>T (p.Lys274Ter)
NM_003108.4(SOX11):c.886G>T (p.Glu296Ter) rs1441654871
NM_006015.6(ARID1A):c.1920+3_1920+6del rs2124792810
NM_006015.6(ARID1A):c.284del (p.Gly95fs)
NM_006015.6(ARID1A):c.3033G>T (p.Leu1011Phe) rs1553152590
NM_006015.6(ARID1A):c.3067T>C (p.Trp1023Arg) rs1557612048
NM_006015.6(ARID1A):c.3067T>G (p.Trp1023Gly)
NM_006015.6(ARID1A):c.3148G>T (p.Asp1050Tyr) rs1570609440
NM_006015.6(ARID1A):c.3169T>C (p.Ser1057Pro) rs2124087634
NM_006015.6(ARID1A):c.3198+2dup
NM_006015.6(ARID1A):c.3230C>A (p.Ala1077Glu) rs1030084592
NM_006015.6(ARID1A):c.3287A>G (p.Tyr1096Cys)
NM_006015.6(ARID1A):c.3898_3899del (p.Met1300fs)
NM_006015.6(ARID1A):c.4049del (p.Ser1350fs) rs2124114899
NM_006015.6(ARID1A):c.4102-1G>C rs2081113293
NM_006015.6(ARID1A):c.4860dup (p.Pro1621fs) rs1553153291
NM_006015.6(ARID1A):c.5138T>C (p.Leu1713Pro) rs797045264
NM_006015.6(ARID1A):c.5903_5904del (p.Cys1968fs)
NM_006015.6(ARID1A):c.595C>T (p.Gln199Ter) rs2124742621
NM_006015.6(ARID1A):c.5963T>C (p.Ile1988Thr) rs2081174839
NM_006015.6(ARID1A):c.5965C>G (p.Arg1989Gly)
NM_006015.6(ARID1A):c.6196A>T (p.Asn2066Tyr) rs1570622663
NM_006015.6(ARID1A):c.6200T>C (p.Ile2067Thr)
NM_006015.6(ARID1A):c.6232G>A (p.Glu2078Lys) rs869312956
NM_006015.6(ARID1A):c.6518A>T (p.Asn2173Ile) rs1553153783
NM_152641.4(ARID2):c.1028T>A (p.Leu343Ter) rs796052242
NM_152641.4(ARID2):c.109dup (p.Ile37fs) rs2137959601
NM_152641.4(ARID2):c.1284_1288del (p.Met428fs) rs2138132620
NM_152641.4(ARID2):c.1716-2A>G rs113548014
NM_152641.4(ARID2):c.1746_1747del (p.Arg582fs)
NM_152641.4(ARID2):c.2659C>T (p.Gln887Ter)
NM_152641.4(ARID2):c.2828T>G (p.Ile943Ser) rs2138166428
NM_152641.4(ARID2):c.3037C>T (p.Gln1013Ter) rs2138168418
NM_152641.4(ARID2):c.3643C>T (p.Gln1215Ter)
NM_152641.4(ARID2):c.3927_3928del (p.Gly1310fs) rs1592121202
NM_152641.4(ARID2):c.4126_4142del (p.Ile1376fs)
NM_152641.4(ARID2):c.4318C>T (p.Gln1440Ter) rs772995852
NM_152641.4(ARID2):c.4942_4943del (p.Gln1648fs) rs2138231889
NM_152641.4(ARID2):c.542_552del (p.Thr181fs)
NM_152641.4(ARID2):c.791G>A (p.Trp264Ter)
NM_152641.4(ARID2):c.820C>T (p.Arg274Ter) rs1943228378
NM_152641.4(ARID2):c.890C>T (p.Ser297Phe)

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