ClinVar Miner

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

Included ClinVar conditions (2):
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Gene type:
ClinVar version:
Total variants: 9
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NM_015559.3(SETBP1):c.1821del (p.Ser608fs) rs797045952
NM_015559.3(SETBP1):c.1873C>T (p.Arg625Ter) rs606231272
NM_015559.3(SETBP1):c.1876C>T (p.Arg626Ter) rs606231273
NM_015559.3(SETBP1):c.2602G>A (p.Asp868Asn) rs267607042
NM_015559.3(SETBP1):c.2603A>C (p.Asp868Ala) rs267607041
NM_015559.3(SETBP1):c.2608G>A (p.Gly870Ser) rs267607040
NM_015559.3(SETBP1):c.2609G>A (p.Gly870Asp) rs267607039
NM_015559.3(SETBP1):c.2612T>C (p.Ile871Thr) rs267607038
NM_015559.3(SETBP1):c.2612T>G (p.Ile871Ser) rs267607038

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