ClinVar Miner

List of variants reported as likely benign for Schinzel-Giedion syndrome

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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_015559.3(SETBP1):c.540+7405G>A rs663651 0.54347
NM_015559.3(SETBP1):c.4398G>T (p.Glu1466Asp) rs117498128 0.00693
NM_015559.3(SETBP1):c.3618T>C (p.His1206=) rs34882016 0.00689
NM_015559.3(SETBP1):c.1491G>A (p.Pro497=) rs113053616 0.00634
NM_015559.3(SETBP1):c.1158C>T (p.Asn386=) rs73472918 0.00192
NM_015559.3(SETBP1):c.*3313A>C rs557394901 0.00053
NM_015559.3(SETBP1):c.3962G>A (p.Arg1321His) rs149638556 0.00045
NM_015559.3(SETBP1):c.141G>A (p.Gly47=) rs146868426 0.00025
NM_015559.3(SETBP1):c.3576C>T (p.Ser1192=) rs201826395 0.00023
NM_015559.3(SETBP1):c.3883G>A (p.Val1295Met) rs563768215 0.00020
NM_015559.3(SETBP1):c.685G>A (p.Gly229Arg) rs143196787 0.00012
NM_015559.3(SETBP1):c.2607C>T (p.Ser869=) rs74499808 0.00011
NM_015559.3(SETBP1):c.3681G>A (p.Glu1227=) rs377760121 0.00005
NM_015559.3(SETBP1):c.1490C>T (p.Pro497Leu) rs145133915 0.00004
NM_015559.3(SETBP1):c.1037C>T (p.Thr346Ile) rs557430935 0.00003
NM_015559.3(SETBP1):c.4202G>A (p.Arg1401Gln) rs775975116 0.00001
NM_015559.3(SETBP1):c.4209G>A (p.Glu1403=) rs565949588 0.00001
NM_015559.3(SETBP1):c.*1160del rs566863613

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