ClinVar Miner

List of variants reported as uncertain significance for Coffin-Siris syndrome 1

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 134
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HGVS dbSNP gnomAD frequency
NM_001374828.1(ARID1B):c.1280C>T (p.Ala427Val) rs530780611 0.00068
NM_003072.5(SMARCA4):c.*299C>T rs772399601 0.00056
NM_001374828.1(ARID1B):c.1229G>C (p.Gly410Ala) rs1455234951 0.00019
NM_001374828.1(ARID1B):c.446A>G (p.Asn149Ser) rs776745618 0.00018
NM_001374828.1(ARID1B):c.5678C>T (p.Ala1893Val) rs201137071 0.00014
NM_024773.3(KDM8):c.368G>A (p.Cys123Tyr) rs201012033 0.00014
NM_001374828.1(ARID1B):c.1337C>T (p.Ala446Val) rs748273011 0.00008
NM_001374828.1(ARID1B):c.1379G>T (p.Gly460Val) rs1274183370 0.00006
NM_001374828.1(ARID1B):c.5672C>T (p.Pro1891Leu) rs142466273 0.00006
NM_001374828.1(ARID1B):c.4714G>A (p.Gly1572Ser) rs141461351 0.00004
NM_003072.5(SMARCA4):c.2832C>T (p.Asn944=) rs764939990 0.00004
NM_001374828.1(ARID1B):c.4459G>A (p.Gly1487Ser) rs151115781 0.00003
NM_001374828.1(ARID1B):c.5774G>A (p.Arg1925Gln) rs751043203 0.00003
NM_001374828.1(ARID1B):c.6110G>A (p.Arg2037Gln) rs751391187 0.00003
NM_001374828.1(ARID1B):c.6344C>T (p.Pro2115Leu) rs368420323 0.00003
NM_001374828.1(ARID1B):c.1046T>G (p.Met349Arg) rs1401971317 0.00002
NM_001374828.1(ARID1B):c.1876A>G (p.Ser626Gly) rs1214970789 0.00002
NM_001374828.1(ARID1B):c.2615T>C (p.Met872Thr) rs761093701 0.00002
NM_001374828.1(ARID1B):c.2711G>A (p.Ser904Asn) rs1159561275 0.00002
NM_001374828.1(ARID1B):c.3752A>G (p.Asn1251Ser) rs1408001716 0.00002
NM_001374828.1(ARID1B):c.5912C>T (p.Pro1971Leu) rs962264300 0.00002
NM_001374828.1(ARID1B):c.6049C>T (p.Pro2017Ser) rs774509236 0.00002
NM_003073.5(SMARCB1):c.-149C>T rs886057282 0.00002
NM_001374828.1(ARID1B):c.1334C>T (p.Ser445Phe) rs1380676072 0.00001
NM_001374828.1(ARID1B):c.1557C>G (p.Ser519Arg) rs1583026835 0.00001
NM_001374828.1(ARID1B):c.1720G>A (p.Ala574Thr) rs1296293849 0.00001
NM_001374828.1(ARID1B):c.1897T>C (p.Tyr633His) rs747306459 0.00001
NM_001374828.1(ARID1B):c.1987-10T>G rs1276255111 0.00001
NM_001374828.1(ARID1B):c.2909C>T (p.Pro970Leu) rs1057521656 0.00001
NM_001374828.1(ARID1B):c.4379G>A (p.Arg1460Gln) rs761133847 0.00001
NM_001374828.1(ARID1B):c.4609C>G (p.Pro1537Ala) rs140639463 0.00001
NM_001374828.1(ARID1B):c.482C>T (p.Ala161Val) rs752961325 0.00001
NM_001374828.1(ARID1B):c.5027C>T (p.Ala1676Val) rs762698567 0.00001
NM_001374828.1(ARID1B):c.5240G>A (p.Arg1747Gln) rs762183842 0.00001
NM_001374828.1(ARID1B):c.5602G>A (p.Glu1868Lys) rs528801298 0.00001
NM_001374828.1(ARID1B):c.6172G>A (p.Ala2058Thr) rs772464386 0.00001
NM_001374828.1(ARID1B):c.6784G>A (p.Ala2262Thr) rs1413279513 0.00001
NM_001374828.1(ARID1B):c.869C>A (p.Ala290Asp) rs920305028 0.00001
NM_003072.5(SMARCA4):c.*346G>A rs754087248 0.00001
NM_003072.5(SMARCA4):c.2565C>T (p.Val855=) rs775610559 0.00001
NM_003072.5(SMARCA4):c.3775-12A>G rs770956288 0.00001
NM_003072.5(SMARCA4):c.4110C>T (p.Gly1370=) rs780735376 0.00001
NM_003072.5(SMARCA4):c.4232G>A (p.Arg1411Gln) rs886054155 0.00001
NM_001128849.2(SMARCA4):c.*464G>T rs886054156
NM_001374828.1(ARID1B):c.*3T>C
NM_001374828.1(ARID1B):c.1051TCCGCC[1] (p.351SA[1]) rs1562376911
NM_001374828.1(ARID1B):c.1114G>A (p.Gly372Arg) rs926297805
NM_001374828.1(ARID1B):c.1132T>G (p.Cys378Gly) rs2114986662
NM_001374828.1(ARID1B):c.1213G>C (p.Gly405Arg)
NM_001374828.1(ARID1B):c.1278_1292del (p.Ala429_Ala433del) rs775733700
NM_001374828.1(ARID1B):c.1292C>T (p.Ala431Val)
NM_001374828.1(ARID1B):c.1312G>A (p.Gly438Ser)
NM_001374828.1(ARID1B):c.1322A>G (p.Tyr441Cys)
NM_001374828.1(ARID1B):c.1355G>A (p.Ser452Asn)
NM_001374828.1(ARID1B):c.1451G>T (p.Gly484Val)
NM_001374828.1(ARID1B):c.1556G>A (p.Ser519Asn)
NM_001374828.1(ARID1B):c.1598C>T (p.Pro533Leu)
NM_001374828.1(ARID1B):c.1598_1599insAAC (p.Pro533_Ser534insThr) rs1562378653
NM_001374828.1(ARID1B):c.1604A>C (p.Gln535Pro)
NM_001374828.1(ARID1B):c.1628_1642dup (p.Ala547_Gly548insAlaGlyAlaAlaAla)
NM_001374828.1(ARID1B):c.1631_1639del (p.Gly544_Ala546del)
NM_001374828.1(ARID1B):c.1737del (p.Ser580fs) rs1779022643
NM_001374828.1(ARID1B):c.1781G>T (p.Gly594Val)
NM_001374828.1(ARID1B):c.1825C>T (p.Pro609Ser)
NM_001374828.1(ARID1B):c.1842G>A (p.Met614Ile)
NM_001374828.1(ARID1B):c.1942C>T (p.Arg648Trp) rs143370913
NM_001374828.1(ARID1B):c.19GCG[7] (p.Ala14del)
NM_001374828.1(ARID1B):c.2069C>T (p.Pro690Leu) rs779239519
NM_001374828.1(ARID1B):c.2345A>G (p.Gln782Arg)
NM_001374828.1(ARID1B):c.253G>T (p.Ala85Ser) rs1349412123
NM_001374828.1(ARID1B):c.2581+5G>A rs1554298239
NM_001374828.1(ARID1B):c.2882G>A (p.Cys961Tyr)
NM_001374828.1(ARID1B):c.2899G>A (p.Gly967Arg) rs1554226059
NM_001374828.1(ARID1B):c.2918G>T (p.Gly973Val)
NM_001374828.1(ARID1B):c.292A>G (p.Ser98Gly)
NM_001374828.1(ARID1B):c.3007C>A (p.Pro1003Thr)
NM_001374828.1(ARID1B):c.3074A>T (p.Asn1025Ile) rs2128635041
NM_001374828.1(ARID1B):c.3154C>T (p.Pro1052Ser)
NM_001374828.1(ARID1B):c.3172A>G (p.Ser1058Gly)
NM_001374828.1(ARID1B):c.3179T>A (p.Met1060Lys) rs2128290781
NM_001374828.1(ARID1B):c.3607A>C (p.Met1203Leu) rs760633180
NM_001374828.1(ARID1B):c.421G>A (p.Ala141Thr)
NM_001374828.1(ARID1B):c.4245C>G (p.Ser1415Arg) rs1453138221
NM_001374828.1(ARID1B):c.4480-8A>G rs1252519291
NM_001374828.1(ARID1B):c.4510G>A (p.Gly1504Arg)
NM_001374828.1(ARID1B):c.4526G>T (p.Arg1509Leu)
NM_001374828.1(ARID1B):c.4540A>G (p.Met1514Val)
NM_001374828.1(ARID1B):c.4573G>A (p.Glu1525Lys) rs1554235555
NM_001374828.1(ARID1B):c.4637A>G (p.Tyr1546Cys) rs1794051416
NM_001374828.1(ARID1B):c.4662G>T (p.Arg1554Ser)
NM_001374828.1(ARID1B):c.4711A>G (p.Met1571Val)
NM_001374828.1(ARID1B):c.4738A>G (p.Ser1580Gly)
NM_001374828.1(ARID1B):c.4785T>G (p.Pro1595=)
NM_001374828.1(ARID1B):c.4894G>A (p.Glu1632Lys) rs1340183572
NM_001374828.1(ARID1B):c.5026G>T (p.Ala1676Ser) rs1794096456
NM_001374828.1(ARID1B):c.5092C>G (p.Leu1698Val) rs1794104878
NM_001374828.1(ARID1B):c.5182G>A (p.Glu1728Lys) rs976192470
NM_001374828.1(ARID1B):c.5548G>C (p.Asp1850His)
NM_001374828.1(ARID1B):c.5693del (p.Lys1898fs)
NM_001374828.1(ARID1B):c.5807A>G (p.Asn1936Ser)
NM_001374828.1(ARID1B):c.586T>C (p.Phe196Leu)
NM_001374828.1(ARID1B):c.5897G>T (p.Arg1966Leu) rs758748419
NM_001374828.1(ARID1B):c.591GCA[11] (p.Gln214_His215insGlnGlnGlnGln)
NM_001374828.1(ARID1B):c.591GCA[12] (p.Gln214_His215insGlnGlnGlnGlnGln)
NM_001374828.1(ARID1B):c.5923T>C (p.Ser1975Pro)
NM_001374828.1(ARID1B):c.5926G>A (p.Ala1976Thr)
NM_001374828.1(ARID1B):c.5926G>T (p.Ala1976Ser)
NM_001374828.1(ARID1B):c.6020G>A (p.Arg2007Gln)
NM_001374828.1(ARID1B):c.6041A>G (p.Asp2014Gly)
NM_001374828.1(ARID1B):c.6236C>T (p.Ser2079Leu)
NM_001374828.1(ARID1B):c.6529C>T (p.His2177Tyr)
NM_001374828.1(ARID1B):c.6592G>T (p.Val2198Phe) rs1794548648
NM_001374828.1(ARID1B):c.662A>G (p.Asn221Ser)
NM_001374828.1(ARID1B):c.6834C>G (p.Ser2278Arg) rs1794564510
NM_001374828.1(ARID1B):c.7004G>T (p.Arg2335Leu) rs146468586
NM_001374828.1(ARID1B):c.7030C>T (p.Arg2344Trp)
NM_001374828.1(ARID1B):c.7046C>T (p.Ser2349Leu)
NM_001374828.1(ARID1B):c.765C>A (p.Asp255Glu)
NM_001374828.1(ARID1B):c.765C>G (p.Asp255Glu)
NM_001374828.1(ARID1B):c.895G>A (p.Ala299Thr) rs1323525221
NM_001374828.1(ARID1B):c.932C>T (p.Pro311Leu)
NM_003070.5(SMARCA2):c.1240G>A (p.Ala414Thr) rs1554618664
NM_003072.5(SMARCA4):c.-32+11C>T rs886054150
NM_003072.5(SMARCA4):c.1761+6C>T rs886054152
NM_003072.5(SMARCA4):c.2232G>C (p.Lys744Asn) rs886054153
NM_003072.5(SMARCA4):c.2616+14G>T rs886054154
NM_003072.5(SMARCA4):c.4904A>G (p.Gln1635Arg) rs1568566518
NM_003072.5(SMARCA4):c.584C>A (p.Pro195His) rs1568422604
NM_003072.5(SMARCA4):c.968C>T (p.Ser323Leu) rs886054151
NM_003073.5(SMARCB1):c.*12_*14dup rs779825754
NM_003073.5(SMARCB1):c.723C>T (p.Ile241=) rs752910574
NM_003107.3(SOX4):c.1157C>T (p.Ser386Phe)
NM_003108.4(SOX11):c.356G>C (p.Arg119Pro) rs749901648
NM_024773.3(KDM8):c.1086+14_1086+21del rs773887912

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