ClinVar Miner

List of variants reported as uncertain significance for Schinzel-Giedion syndrome by Genetic Services Laboratory, University of Chicago

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Total variants: 7
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NM_015559.3(SETBP1):c.1223C>G (p.Ala408Gly) rs587784380
NM_015559.3(SETBP1):c.1503C>T (p.Pro501=) rs374300895
NM_015559.3(SETBP1):c.1932C>T (p.Ser644=) rs3744824
NM_015559.3(SETBP1):c.3825A>C (p.Ser1275=) rs8096662
NM_015559.3(SETBP1):c.3825A>T (p.Ser1275=) rs8096662
NM_015559.3(SETBP1):c.4554G>A (p.Glu1518=) rs574196735
NM_015559.3(SETBP1):c.46G>A (p.Glu16Lys) rs587784381

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