ClinVar Miner

List of variants reported as uncertain significance for Pierre Robin syndrome associated with collagen disease by Geisinger Autism and Developmental Medicine Institute,Geisinger Health System

Included ClinVar conditions (15):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP
NM_080680.2(COL11A2):c.587T>C (p.Leu196Pro) rs150982987
NM_080680.2(COL11A2):c.889G>A (p.Gly297Ser) rs139116571

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