ClinVar Miner

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

Included ClinVar conditions (325):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_001854.4(COL11A1):c.1245+1G>A rs766849561 0.00005
NM_001854.4(COL11A1):c.2608C>T (p.Arg870Trp) rs778379327 0.00001
NM_001854.4(COL11A1):c.1473_1475inv (p.Met492Ter)
NM_001854.4(COL11A1):c.2287G>T (p.Gly763Ter) rs2101794024
NM_001854.4(COL11A1):c.3168+1G>A rs886042653
NM_001854.4(COL11A1):c.3278G>C (p.Gly1093Ala) rs1477374848
NM_001854.4(COL11A1):c.3600+2T>C
NM_001854.4(COL11A1):c.3692G>T (p.Gly1231Val) rs750291363
NM_001854.4(COL11A1):c.4186G>T (p.Gly1396Cys) rs763199410
NM_001854.4(COL11A1):c.4302+2T>C rs1553196233
NM_001854.4(COL11A1):c.652-1G>C rs1064797115

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