ClinVar Miner

List of variants reported as uncertain significance for Coffin-Siris syndrome 6 by Baylor Genetics

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 53
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HGVS dbSNP gnomAD frequency
NM_003073.5(SMARCB1):c.628+13C>T rs184021903 0.00235
NM_001374828.1(ARID1B):c.1379G>T (p.Gly460Val) rs1274183370 0.00006
NM_003072.5(SMARCA4):c.3383-5G>A rs762528243 0.00006
NM_003072.5(SMARCA4):c.4826T>C (p.Leu1609Pro) rs755493468 0.00003
NM_001374828.1(ARID1B):c.1876A>G (p.Ser626Gly) rs1214970789 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_003072.5(SMARCA4):c.661C>A (p.Pro221Thr) rs1417452362 0.00002
NM_006015.6(ARID1A):c.1430A>G (p.His477Arg) rs757458581 0.00002
NM_006015.6(ARID1A):c.1712C>T (p.Ser571Leu) rs969170076 0.00002
NM_001374828.1(ARID1B):c.1334C>T (p.Ser445Phe) rs1380676072 0.00001
NM_001374828.1(ARID1B):c.1897T>C (p.Tyr633His) rs747306459 0.00001
NM_001374828.1(ARID1B):c.2909C>T (p.Pro970Leu) rs1057521656 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_006015.6(ARID1A):c.2320C>T (p.Arg774Cys) rs1466882490 0.00001
NM_006015.6(ARID1A):c.2756A>G (p.Asn919Ser) rs1250258763 0.00001
NM_006015.6(ARID1A):c.326C>G (p.Pro109Arg) rs1167372383 0.00001
NM_006015.6(ARID1A):c.3539+5G>A rs750030197 0.00001
NM_006015.6(ARID1A):c.4631C>T (p.Ser1544Leu) rs1326693674 0.00001
NM_006015.6(ARID1A):c.4792C>T (p.Arg1598Cys) rs781689378 0.00001
NM_152641.4(ARID2):c.2556G>T (p.Gln852His) rs769786026 0.00001
NM_001374828.1(ARID1B):c.1114G>A (p.Gly372Arg) rs926297805
NM_001374828.1(ARID1B):c.4480-8A>G rs1252519291
NM_001374828.1(ARID1B):c.4637A>G (p.Tyr1546Cys) rs1794051416
NM_001374828.1(ARID1B):c.5026G>T (p.Ala1676Ser) rs1794096456
NM_001374828.1(ARID1B):c.5182G>A (p.Glu1728Lys) rs976192470
NM_001374828.1(ARID1B):c.895G>A (p.Ala299Thr) rs1323525221
NM_003072.5(SMARCA4):c.*4_*5dup rs2076919180
NM_003072.5(SMARCA4):c.1348G>T (p.Ala450Ser) rs1204677224
NM_003072.5(SMARCA4):c.3608G>A (p.Arg1203His) rs770680174
NM_003072.5(SMARCA4):c.4303G>A (p.Asp1435Asn) rs796506759
NM_003072.5(SMARCA4):c.679G>A (p.Ala227Thr) rs769096295
NM_003072.5(SMARCA4):c.989C>T (p.Thr330Ile) rs1555755082
NM_003073.5(SMARCB1):c.1089G>T (p.Lys363Asn) rs1568963037
NM_003073.5(SMARCB1):c.110G>A (p.Arg37His) rs398122368
NM_003073.5(SMARCB1):c.487A>G (p.Thr163Ala) rs1929117173
NM_003079.5(SMARCE1):c.1009A>T (p.Asn337Tyr) rs2037085057
NM_003079.5(SMARCE1):c.1036C>A (p.His346Asn) rs751700497
NM_003108.4(SOX11):c.1147G>T (p.Gly383Cys) rs1665683367
NM_003108.4(SOX11):c.787C>A (p.Pro263Thr) rs745675837
NM_006015.6(ARID1A):c.197C>G (p.Pro66Arg) rs2080256530
NM_006015.6(ARID1A):c.2380G>A (p.Gly794Arg) rs2080999624
NM_006015.6(ARID1A):c.2630C>T (p.Pro877Leu) rs2081008426
NM_006015.6(ARID1A):c.289G>A (p.Glu97Lys) rs2080258690
NM_006015.6(ARID1A):c.3049G>A (p.Glu1017Lys) rs2081052425
NM_006015.6(ARID1A):c.3276G>T (p.Leu1092Phe) rs2081080248
NM_006015.6(ARID1A):c.4114C>A (p.Pro1372Thr) rs745873673
NM_006015.6(ARID1A):c.98_107del (p.Glu33fs) rs2124740134
NM_152641.4(ARID2):c.3694A>G (p.Thr1232Ala) rs1943556259
NM_152641.4(ARID2):c.410G>C (p.Ser137Thr) rs1459853256
NM_152641.4(ARID2):c.4125C>T (p.Asn1375=) rs1943565367
NM_152641.4(ARID2):c.7A>C (p.Asn3His) rs868029449

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