ClinVar Miner

List of variants in gene SETBP1 reported as benign for brain disorder

Included ClinVar conditions (1840):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_015559.3(SETBP1):c.3825A>G (p.Ser1275=) rs8096662 0.90817
NM_015559.3(SETBP1):c.540+7422_540+7423insTCTT rs3085861 0.54222
NM_015559.3(SETBP1):c.3301G>A (p.Val1101Ile) rs3744825 0.10462
NM_015559.3(SETBP1):c.4000+10T>A rs3786177 0.10035
NM_015559.3(SETBP1):c.3388C>A (p.Pro1130Thr) rs1064204 0.09043
NM_015559.3(SETBP1):c.4129G>C (p.Val1377Leu) rs77518617 0.00922
NM_015559.3(SETBP1):c.4398G>T (p.Glu1466Asp) rs117498128 0.00693
NM_015559.3(SETBP1):c.1170C>T (p.Ala390=) rs8091231 0.00482
NM_015559.3(SETBP1):c.*4753del rs10715988
NM_015559.3(SETBP1):c.691G>C (p.Val231Leu) rs11082414

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