ClinVar Miner

List of variants reported as uncertain significance for autosomal dominant nonsyndromic hearing loss 13 by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_080680.3(COL11A2):c.889G>A (p.Gly297Ser) rs139116571 0.00012
NM_080680.3(COL11A2):c.3859G>C (p.Asp1287His) rs1219133025 0.00001
NM_080680.3(COL11A2):c.3676G>A (p.Glu1226Lys) rs1259912377

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