ClinVar Miner

List of variants reported as likely pathogenic by Fondazione Telethon,Telethon Institute of Genetics and Medicine

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Total variants: 10
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NM_003070.5(SMARCA2):c.1514G>A (p.Arg505Gln) rs1586657848
NM_003070.5(SMARCA2):c.1538G>T (p.Gly513Val) rs1586660338
NM_003070.5(SMARCA2):c.1573C>T (p.Arg525Cys) rs1586660370
NM_003070.5(SMARCA2):c.1574G>A (p.Arg525His) rs1586660381
NM_003070.5(SMARCA2):c.1585C>G (p.Leu529Val) rs1586660389
NM_003070.5(SMARCA2):c.1600G>A (p.Asp534Asn) rs863224922
NM_003070.5(SMARCA2):c.2786A>T (p.Glu929Val) rs1586692481
NM_003070.5(SMARCA2):c.2809C>T (p.Arg937Cys) rs1586692548
NM_003070.5(SMARCA2):c.2810G>A (p.Arg937His) rs1586692551
NM_003070.5(SMARCA2):c.2810G>T (p.Arg937Leu) rs1586692551

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