ClinVar Miner

List of variants in gene COL11A2 reported as likely benign for auditory system disorder

Included ClinVar conditions (325):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_080680.3(COL11A2):c.2186G>A (p.Arg729Gln) rs61730262 0.00339
NM_080680.3(COL11A2):c.4230+13C>G rs200051654 0.00019
NM_080680.3(COL11A2):c.4587G>A (p.Pro1529=) rs765931315 0.00010
NM_080680.3(COL11A2):c.2737-4C>T rs1322401943 0.00004
NM_080680.3(COL11A2):c.4338+5G>A rs2150522213

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