ClinVar Miner

List of variants in gene SMARCA4 reported as uncertain significance by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Gene type:
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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_003072.5(SMARCA4):c.3952-13C>A rs374611879 0.00003
NM_003072.5(SMARCA4):c.4310G>A (p.Ser1437Asn) rs1402031100 0.00002
NM_003072.5(SMARCA4):c.4311C>A (p.Ser1437Arg) rs1392263235 0.00002
NM_003072.5(SMARCA4):c.254C>T (p.Ser85Leu) rs751542188 0.00001
NM_003072.5(SMARCA4):c.4171-1854T>C rs1157173095 0.00001
NM_003072.5(SMARCA4):c.2716C>T (p.Arg906Cys) rs898406635

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