ClinVar Miner

List of variants reported as benign for autosomal dominant nonsyndromic hearing loss 13

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_080680.3(COL11A2):c.1360-7A>C rs3129201 0.99999
NM_080680.3(COL11A2):c.2700T>C (p.Asp900=) rs2229785 0.78559
NM_080680.3(COL11A2):c.3150+15A>C rs2855436 0.77853
NM_080680.3(COL11A2):c.2484+22C>G rs2744512 0.77793
NM_080680.3(COL11A2):c.3313-11C>T rs2855437 0.73560
NM_080680.3(COL11A2):c.4339-49G>T rs2855453 0.66736
NM_080680.3(COL11A2):c.3853-39G>A rs2855448 0.64558
NM_080680.3(COL11A2):c.2628+3G>A rs970901 0.57903
NM_080680.3(COL11A2):c.3174G>A (p.Pro1058=) rs1799910 0.50179
NM_080680.3(COL11A2):c.2136A>T (p.Gly712=) rs1799908 0.46292
NM_080680.3(COL11A2):c.877-4T>A rs1799907 0.31476
NM_080680.3(COL11A2):c.3384C>T (p.Pro1128=) rs1799911 0.22509
NM_080680.3(COL11A2):c.877-34C>T rs116165521 0.14216
NM_080680.3(COL11A2):c.4799G>A (p.Arg1600Gln) rs1799912 0.00052
NM_080680.3(COL11A2):c.2682+26A>C rs9277932
NM_080680.3(COL11A2):c.826G>A (p.Glu276Lys) rs9277934

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