ClinVar Miner

List of variants in gene SETBP1 reported as benign for Schinzel-Giedion syndrome

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 13
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HGVS dbSNP
NM_015559.3(SETBP1):c.*2901A>C rs7244247
NM_015559.3(SETBP1):c.*2966del rs777732826
NM_015559.3(SETBP1):c.*2987del rs34125334
NM_015559.3(SETBP1):c.*4753del rs10715988
NM_015559.3(SETBP1):c.*813C>G rs7233404
NM_015559.3(SETBP1):c.1879C>T (p.Arg627Cys) rs146193261
NM_015559.3(SETBP1):c.3301G>A (p.Val1101Ile) rs3744825
NM_015559.3(SETBP1):c.3388C>A (p.Pro1130Thr) rs1064204
NM_015559.3(SETBP1):c.3825A>G (p.Ser1275=) rs8096662
NM_015559.3(SETBP1):c.4000+10T>A rs3786177
NM_015559.3(SETBP1):c.4640C>A (p.Thr1547Asn) rs201973930
NM_015559.3(SETBP1):c.540+7422_540+7423insTCTT rs3085861
NM_015559.3(SETBP1):c.691G>C (p.Val231Leu) rs11082414

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