ClinVar Miner

List of variants reported as likely benign for Segawa syndrome, autosomal recessive by Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen

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Total variants: 3
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HGVS dbSNP
NM_199292.3(TH):c.16G>A (p.Ala6Thr) rs74555599
NM_199292.3(TH):c.360G>A (p.Arg120=) rs76240471
NM_199292.3(TH):c.777G>A (p.Glu259=) rs11564716

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