ClinVar Miner

List of variants reported as likely pathogenic for Lamb-shaffer syndrome

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Total variants: 12
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NM_006940.6(SOX5):c.1411C>T (p.Arg471Ter) rs1592099852
NM_006940.6(SOX5):c.1673G>A (p.Arg558His)
NM_006940.6(SOX5):c.1681A>C (p.Asn561His) rs1591908568
NM_006940.6(SOX5):c.1711C>T (p.Arg571Trp) rs1565669640
NM_006940.6(SOX5):c.1712G>T (p.Arg571Leu) rs773832380
NM_006940.6(SOX5):c.1759A>T (p.Ser587Cys)
NM_006940.6(SOX5):c.1789A>G (p.Met597Val)
NM_006940.6(SOX5):c.1814A>C (p.Tyr605Ser) rs1591833522
NM_006940.6(SOX5):c.1868A>G (p.Tyr623Cys) rs1591833159
NM_006940.6(SOX5):c.1895C>A (p.Thr632Asn) rs1135401816
NM_006940.6(SOX5):c.482-2A>C rs1057518845
NM_006940.6(SOX5):c.637C>T (p.Arg213Ter) rs767241917

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