ClinVar Miner

List of variants studied for Schinzel-Giedion syndrome by Illumina Laboratory Services, Illumina

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_015559.3(SETBP1):c.540+7422_540+7423insTCTT rs3085861 0.54222
NM_015559.3(SETBP1):c.*3313A>C rs557394901 0.00053
NM_015559.3(SETBP1):c.*1377G>A rs886053804 0.00016
NM_015559.3(SETBP1):c.685G>A (p.Gly229Arg) rs143196787 0.00012
NM_015559.3(SETBP1):c.*1160del rs566863613
NM_015559.3(SETBP1):c.*1643_*1647del rs370951422
NM_015559.3(SETBP1):c.*2063_*2066del rs886053806
NM_015559.3(SETBP1):c.*2970_*2971insT rs886053809
NM_015559.3(SETBP1):c.*2971del rs886053810
NM_015559.3(SETBP1):c.*2987dup rs34125334
NM_015559.3(SETBP1):c.*2988del rs886053812
NM_015559.3(SETBP1):c.*4753del rs10715988
NM_015559.3(SETBP1):c.*745dup rs368699262
NM_015559.3(SETBP1):c.-241dup rs886053786
NM_015559.3(SETBP1):c.2358C>T (p.Ser786=) rs886053793
NM_015559.3(SETBP1):c.2561C>A (p.Ser854Tyr) rs2071362354
NM_015559.3(SETBP1):c.2607C>G (p.Ser869Arg)

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