ClinVar Miner

List of variants studied for Segawa syndrome, autosomal recessive by DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center

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Total variants: 7
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NM_199292.3(TH):c.1070+8C>G rs12419447
NM_199292.3(TH):c.1293+9C>T rs11564717
NM_199292.3(TH):c.16G>A (p.Ala6Thr) rs74555599
NM_199292.3(TH):c.334G>A (p.Val112Met) rs6356
NM_199292.3(TH):c.360G>A (p.Arg120=) rs76240471
NM_199292.3(TH):c.777G>A (p.Glu259=) rs11564716
NM_199292.3(TH):c.813G>A (p.Lys271=) rs6357

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