ClinVar Miner

List of variants in gene SMARCA2 reported by Diagnostic Laboratory, Strasbourg University Hospital

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_003070.5(SMARCA2):c.1458C>G (p.Asn486Lys) rs1586657809
NM_003070.5(SMARCA2):c.1574G>A (p.Arg525His) rs1586660381
NM_003070.5(SMARCA2):c.2342C>G (p.Pro781Arg) rs1821584135
NM_003070.5(SMARCA2):c.2348C>G (p.Ser783Trp) rs1554623112
NM_003070.5(SMARCA2):c.2786A>T (p.Glu929Val) rs1586692481
NM_003070.5(SMARCA2):c.3078G>C (p.Glu1026Asp) rs764240763
NM_003070.5(SMARCA2):c.3602C>T (p.Ala1201Val) rs281875189
NM_003070.5(SMARCA2):c.3623C>G (p.Ser1208Cys) rs1823200345
NM_003070.5(SMARCA2):c.3754del (p.Leu1252fs) rs1823357335

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