ClinVar Miner

List of variants in gene SMARCA4 reported as uncertain significance for Coffin-Siris syndrome

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Total variants: 20
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HGVS dbSNP
NM_001128849.2(SMARCA4):c.*299C>T rs772399601
NM_001128849.2(SMARCA4):c.*346G>A rs754087248
NM_001128849.2(SMARCA4):c.*464G>T rs886054156
NM_001128849.2(SMARCA4):c.-32+11C>T rs886054150
NM_001128849.2(SMARCA4):c.1099C>T (p.Leu367=) rs372379166
NM_001128849.2(SMARCA4):c.1104G>A (p.Gln368=) rs751242644
NM_001128849.2(SMARCA4):c.147G>A (p.Pro49=) rs758438795
NM_001128849.2(SMARCA4):c.1761+6C>T rs886054152
NM_001128849.2(SMARCA4):c.2232G>C (p.Lys744Asn) rs886054153
NM_001128849.2(SMARCA4):c.2565C>T (p.Val855=) rs775610559
NM_001128849.2(SMARCA4):c.2616+14G>T rs886054154
NM_001128849.2(SMARCA4):c.2832C>T (p.Asn944=) rs764939990
NM_001128849.2(SMARCA4):c.355+9C>T rs767575401
NM_001128849.2(SMARCA4):c.3669C>T (p.Asn1223=) rs28997581
NM_001128849.2(SMARCA4):c.3775-12A>G rs770956288
NM_001128849.2(SMARCA4):c.4110C>T (p.Gly1370=) rs780735376
NM_001128849.2(SMARCA4):c.4328G>A (p.Arg1443Gln) rs886054155
NM_001128849.2(SMARCA4):c.459G>A (p.Pro153=) rs372931195
NM_001128849.2(SMARCA4):c.584C>A (p.Pro195His) rs1568422604
NM_001128849.2(SMARCA4):c.968C>T (p.Ser323Leu) rs886054151

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