ClinVar Miner

List of variants in gene COL11A2 reported as uncertain significance for Pierre Robin syndrome associated with collagen disease

Included ClinVar conditions (15):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP
NM_080680.2(COL11A2):c.3289A>C (p.Thr1097Pro) rs138045609
NM_080680.2(COL11A2):c.4040C>A (p.Pro1347Gln) rs142890313
NM_080680.2(COL11A2):c.587T>C (p.Leu196Pro) rs150982987
NM_080680.2(COL11A2):c.628A>G (p.Ile210Val) rs778295133
NM_080680.2(COL11A2):c.889G>A (p.Gly297Ser) rs139116571

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