ClinVar Miner

List of variants in gene COL11A1 reported as likely pathogenic for auditory system disease

Included ClinVar conditions (549):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
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NM_001854.4(COL11A1):c.1168G>T (p.Glu390Ter)
NM_001854.4(COL11A1):c.1862_1870del (p.Gln621_Pro623del) rs1557932876
NM_001854.4(COL11A1):c.2287G>T (p.Gly763Ter)
NM_001854.4(COL11A1):c.2754+5G>A rs1057518666
NM_001854.4(COL11A1):c.2972G>A (p.Gly991Asp) rs1557877041
NM_001854.4(COL11A1):c.3115G>A (p.Gly1039Ser) rs764282256
NM_001854.4(COL11A1):c.3278G>C (p.Gly1093Ala)
NM_001854.4(COL11A1):c.652-1G>C rs1064797115

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