ClinVar Miner

List of variants reported as likely benign for Shprintzen-Goldberg syndrome by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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NM_003036.4(SKI):c.1317C>T (p.Val439=)
NM_003036.4(SKI):c.1887G>A (p.Glu629=) rs771953750
NM_003036.4(SKI):c.948G>A (p.Lys316=) rs368128582

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