ClinVar Miner

List of variants reported as uncertain significance 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: 10
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HGVS dbSNP gnomAD frequency
NM_015559.3(SETBP1):c.*1377G>A rs886053804 0.00016
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.*745dup rs368699262
NM_015559.3(SETBP1):c.-241dup rs886053786
NM_015559.3(SETBP1):c.2358C>T (p.Ser786=) rs886053793

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