ClinVar Miner

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

Included ClinVar conditions (549):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 10
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HGVS dbSNP
COL11A1, 54-BP EX DEL, AS, AG-TG
NM_001854.4(COL11A1):c.1630-2del rs1057517989
NM_001854.4(COL11A1):c.1874G>T (p.Gly625Val) rs121912943
NM_001854.4(COL11A1):c.2608C>T (p.Arg870Trp)
NM_001854.4(COL11A1):c.3438+2_3438+3del rs1557847904
NM_001854.4(COL11A1):c.4302+2T>C rs1553196233
NM_001854.4(COL11A1):c.4396G>T (p.Glu1466Ter) rs866783525
NM_001854.4(COL11A1):c.494A>T (p.His165Leu)
NM_001854.4(COL11A1):c.652-1G>C rs1064797115
NM_001854.4(COL11A1):c.652-2A>C rs747787770

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