ClinVar Miner

List of variants in gene COL9A1 studied 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_001851.5(COL9A1):c.1519C>T (p.Arg507Ter) rs189754995
NM_001851.5(COL9A1):c.1634G>A (p.Arg545His) rs145698301
NM_001851.5(COL9A1):c.353G>A (p.Arg118Gln) rs143848379
NM_001851.5(COL9A1):c.626G>A (p.Arg209Lys) rs571441243
NM_001851.5(COL9A1):c.883C>T (p.Arg295Ter) rs121912931

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