ClinVar Miner

List of variants reported as pathogenic for Schinzel-Giedion syndrome

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Total variants: 6
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HGVS dbSNP
NM_015559.3(SETBP1):c.1821del (p.Ser608fs) rs797045952
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

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