ClinVar Miner

List of variants studied for Schinzel-Giedion syndrome by Genetic Services Laboratory, University of Chicago

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
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HGVS dbSNP
NM_015559.3(SETBP1):c.1223C>G (p.Ala408Gly) rs587784380
NM_015559.3(SETBP1):c.1503C>T (p.Pro501=) rs374300895
NM_015559.3(SETBP1):c.1821del (p.Ser608fs) rs797045952
NM_015559.3(SETBP1):c.1932C>T (p.Ser644=) rs3744824
NM_015559.3(SETBP1):c.2602G>A (p.Asp868Asn) rs267607042
NM_015559.3(SETBP1):c.2602G>C (p.Asp868His) rs267607042
NM_015559.3(SETBP1):c.2608G>A (p.Gly870Ser) rs267607040
NM_015559.3(SETBP1):c.2612T>C (p.Ile871Thr) rs267607038
NM_015559.3(SETBP1):c.3825A>C (p.Ser1275=) rs8096662
NM_015559.3(SETBP1):c.3825A>T (p.Ser1275=) rs8096662
NM_015559.3(SETBP1):c.4398G>T (p.Glu1466Asp) rs117498128
NM_015559.3(SETBP1):c.4554G>A (p.Glu1518=) rs574196735
NM_015559.3(SETBP1):c.46G>A (p.Glu16Lys) rs587784381

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