ClinVar Miner

List of variants reported as uncertain significance for Intellectual disability by Institute for Human Genetics, University Hospital Essen

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_006940.6(SOX5):c.2078C>T (p.Ser693Leu)	rs1463087817	0.00001
NM_006940.6(SOX5):c.1895C>A (p.Thr632Asn)	rs1135401816
NM_006940.6(SOX5):c.928T>A (p.Cys310Ser)	rs1593089328

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