ClinVar Miner

List of variants studied for Goldberg-Shprintzen megacolon syndrome by Genetic Services Laboratory, University of Chicago

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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NM_015634.4(KIFBP):c.78A>G (p.Lys26=) rs144067344
NM_015634.4(KIFBP):c.925G>A (p.Glu309Lys) rs76319365

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