ClinVar Miner

List of variants in gene COL11A1 reported as pathogenic 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: 4
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HGVS dbSNP
COL11A1, 54-BP EX DEL, AS, AG-TG
NM_001854.4(COL11A1):c.1874G>T (p.Gly625Val) rs121912943
NM_001854.4(COL11A1):c.3438+2_3438+3del rs1557847904
NM_001854.4(COL11A1):c.4396G>T (p.Glu1466Ter)

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