ClinVar Miner

List of variants in gene COL11A1 studied for Stickler Syndrome, Dominant

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_001854.4(COL11A1):c.*628dup rs532806397 0.00093
NM_001854.4(COL11A1):c.-198_-195del rs886044981 0.00031
NM_001854.4(COL11A1):c.4140+13del rs781736900 0.00012
NM_001854.4(COL11A1):c.-231dup rs886044983
NM_001854.4(COL11A1):c.1792-39ATG[11] rs71752747
NM_001854.4(COL11A1):c.1792-39ATG[12] rs71752747
NM_001854.4(COL11A1):c.1792-39ATG[8] rs71752747
NM_001854.4(COL11A1):c.3817-13del rs34228277
NM_001854.4(COL11A1):c.3817-14_3817-13dup rs34228277
NM_001854.4(COL11A1):c.4303-13del rs35232764
NM_001854.4(COL11A1):c.4303-13dup rs35232764
NM_001854.4(COL11A1):c.4357-16dup rs748850423
NM_001854.4(COL11A1):c.652-6dup rs36076089
NM_001854.4(COL11A1):c.652-7_652-6del rs36076089
NM_001854.4(COL11A1):c.652-7_652-6dup rs36076089

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