List of variants reported as likely pathogenic for autosomal anomaly by Institute for Human Genetics, University Hospital Essen

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_006940.6(SOX5):c.1712G>T (p.Arg571Leu)	rs773832380
NM_006940.6(SOX5):c.1868A>G (p.Tyr623Cys)	rs1591833159

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