ClinVar Miner

List of variants reported as uncertain significance for Autosomal dominant nonsyndromic hearing loss 13

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_080680.3(COL11A2):c.3932A>G (p.Asn1311Ser) rs727504460 0.00013
NM_080680.3(COL11A2):c.889G>A (p.Gly297Ser) rs139116571 0.00012
NM_080680.3(COL11A2):c.1378G>T (p.Gly460Trp) rs200635355 0.00008
NM_080680.3(COL11A2):c.5A>G (p.Glu2Gly) rs568840295 0.00003
NM_080680.3(COL11A2):c.1510C>T (p.Pro504Ser) rs765609390 0.00001
NM_080680.3(COL11A2):c.3059G>A (p.Arg1020Gln) rs779998311 0.00001
NM_080680.3(COL11A2):c.4787G>A (p.Arg1596Gln) rs944367128 0.00001
NM_080680.3(COL11A2):c.97G>A (p.Asp33Asn) rs1268538634 0.00001
NM_080680.3(COL11A2):c.2114A>G (p.Gln705Arg)
NM_080680.3(COL11A2):c.3031C>A (p.Pro1011Thr) rs997533180
NM_080680.3(COL11A2):c.3676G>A (p.Glu1226Lys) rs1259912377
NM_080680.3(COL11A2):c.3859G>C (p.Asp1287His) rs1219133025
NM_080680.3(COL11A2):c.3890G>T (p.Gly1297Val) rs1583299412
NM_080680.3(COL11A2):c.4991T>C (p.Leu1664Pro)

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