ClinVar Miner

List of variants in gene SMARCA4 reported as pathogenic for Mental retardation, autosomal dominant 16

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Total variants: 7
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HGVS dbSNP
NM_001128849.2(SMARCA4):c.1633_1635AAG[1] (p.Lys546del) rs876657378
NM_001128849.2(SMARCA4):c.2576C>T (p.Thr859Met) rs281875226
NM_001128849.2(SMARCA4):c.2653C>T (p.Arg885Cys) rs281875227
NM_001128849.2(SMARCA4):c.2761C>T (p.Leu921Phe) rs281875228
NM_001128849.2(SMARCA4):c.2851G>A (p.Gly951Arg) rs1060499936
NM_001128849.2(SMARCA4):c.3032T>C (p.Met1011Thr) rs281875229
NM_001128849.2(SMARCA4):c.3469C>G (p.Arg1157Gly) rs281875230

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