ClinVar Miner

List of variants in gene SMARCA4 reported as pathogenic by GeneDx

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Total variants: 8
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HGVS dbSNP
NM_001128849.2(SMARCA4):c.1757_1760del (p.Lys586fs) rs1342399494
NM_001128849.2(SMARCA4):c.2287G>T (p.Glu763Ter) rs1555774631
NM_001128849.2(SMARCA4):c.2653C>T (p.Arg885Cys) rs281875227
NM_001128849.2(SMARCA4):c.2654G>A (p.Arg885His) rs1064794284
NM_001128849.2(SMARCA4):c.3556G>A (p.Ala1186Thr) rs1085307556
NM_001128849.2(SMARCA4):c.3565C>T (p.Arg1189Ter) rs267607070
NM_001128849.2(SMARCA4):c.4622del (p.Lys1541fs) rs1555795091
NM_001128849.2(SMARCA4):c.788dup (p.Gly264fs) rs1555754177

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