ClinVar Miner

List of variants in gene SMARCA4 reported as pathogenic for Hereditary cancer-predisposing syndrome

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Total variants: 48
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HGVS dbSNP gnomAD frequency
NM_001128849.1(SMARCA4):c.3874delG
NM_003072.5(SMARCA4):c.1141C>T (p.Arg381Ter) rs972341316
NM_003072.5(SMARCA4):c.1183del (p.Asp395fs)
NM_003072.5(SMARCA4):c.1472_1473insGCAAA (p.Ser492fs) rs2145938835
NM_003072.5(SMARCA4):c.1489dup (p.Ile497fs) rs1600068013
NM_003072.5(SMARCA4):c.1554_1555del (p.Asn519fs)
NM_003072.5(SMARCA4):c.1645del (p.Arg549fs)
NM_003072.5(SMARCA4):c.1666C>T (p.Gln556Ter) rs1555763642
NM_003072.5(SMARCA4):c.1717del (p.Ala573fs)
NM_003072.5(SMARCA4):c.1823del (p.Glu608fs)
NM_003072.5(SMARCA4):c.1892dup (p.Asp632fs)
NM_003072.5(SMARCA4):c.1911dup (p.Gln638fs)
NM_003072.5(SMARCA4):c.2032C>T (p.Gln678Ter) rs1555771571
NM_003072.5(SMARCA4):c.2236_2239del (p.Ser746fs)
NM_003072.5(SMARCA4):c.2838del (p.Phe947fs) rs2146423140
NM_003072.5(SMARCA4):c.2854_2855delinsC (p.Glu952fs)
NM_003072.5(SMARCA4):c.2932C>T (p.Arg978Ter) rs1064796254
NM_003072.5(SMARCA4):c.2935C>T (p.Arg979Ter) rs769308802
NM_003072.5(SMARCA4):c.3000del (p.Met1000fs) rs1600300837
NM_003072.5(SMARCA4):c.300del (p.Gly102fs) rs1599941421
NM_003072.5(SMARCA4):c.3010C>T (p.Gln1004Ter)
NM_003072.5(SMARCA4):c.3013C>T (p.Arg1005Ter) rs2146473376
NM_003072.5(SMARCA4):c.3150C>A (p.Tyr1050Ter)
NM_003072.5(SMARCA4):c.3168+2T>C rs1489795776
NM_003072.5(SMARCA4):c.3213del (p.Leu1073fs)
NM_003072.5(SMARCA4):c.3229C>T (p.Arg1077Ter) rs2146541571
NM_003072.5(SMARCA4):c.3277C>T (p.Arg1093Ter) rs1600335765
NM_003072.5(SMARCA4):c.3480dup (p.Leu1161fs) rs797045982
NM_003072.5(SMARCA4):c.3496C>T (p.Gln1166Ter) rs1600365455
NM_003072.5(SMARCA4):c.3533G>A (p.Trp1178Ter) rs587777460
NM_003072.5(SMARCA4):c.3559C>T (p.Gln1187Ter) rs1600389034
NM_003072.5(SMARCA4):c.3565C>T (p.Arg1189Ter) rs267607070
NM_003072.5(SMARCA4):c.4004del (p.Pro1335fs)
NM_003072.5(SMARCA4):c.4038G>A (p.Trp1346Ter)
NM_003072.5(SMARCA4):c.4126dup (p.Glu1376fs)
NM_003072.5(SMARCA4):c.4153del (p.Glu1385fs) rs1600407324
NM_003072.5(SMARCA4):c.4471C>T (p.Arg1491Ter) rs758517117
NM_003072.5(SMARCA4):c.4477G>T (p.Glu1493Ter)
NM_003072.5(SMARCA4):c.4494C>G (p.Tyr1498Ter)
NM_003072.5(SMARCA4):c.4579A>T (p.Lys1527Ter)
NM_003072.5(SMARCA4):c.478del (p.Gln160fs)
NM_003072.5(SMARCA4):c.490C>T (p.Gln164Ter) rs2145775805
NM_003072.5(SMARCA4):c.747C>A (p.Tyr249Ter)
NM_003072.5(SMARCA4):c.788del (p.Pro263fs)
NM_003072.5(SMARCA4):c.810dup (p.Gly271fs)
NM_003072.5(SMARCA4):c.826_827del (p.Pro276fs)
NM_003072.5(SMARCA4):c.885del (p.Thr296fs)
NM_003072.5(SMARCA4):c.947del (p.Pro316fs)

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