ClinVar Miner

List of variants in gene COL11A2 reported as uncertain significance for auditory system disorder

Included ClinVar conditions (325):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_080680.3(COL11A2):c.5000G>A (p.Arg1667His) rs146555195 0.00103
NM_080680.3(COL11A2):c.4040C>A (p.Pro1347Gln) rs142890313 0.00089
NM_080680.3(COL11A2):c.688G>T (p.Gly230Trp) rs141430703 0.00054
NM_080680.3(COL11A2):c.1382G>A (p.Gly461Asp) rs141140798 0.00045
NM_080680.3(COL11A2):c.2555G>A (p.Arg852Gln) rs147927477 0.00031
NM_080680.3(COL11A2):c.3289A>C (p.Thr1097Pro) rs138045609 0.00020
NM_080680.3(COL11A2):c.1220C>T (p.Ala407Val) rs201981435 0.00014
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.1510C>T (p.Pro504Ser) rs765609390 0.00006
NM_080680.3(COL11A2):c.277C>T (p.Arg93Cys) rs372449299 0.00006
NM_080680.3(COL11A2):c.3101G>A (p.Arg1034His) rs957902805 0.00006
NM_080680.3(COL11A2):c.4202G>A (p.Arg1401Gln) rs184399988 0.00005
NM_080680.3(COL11A2):c.1726A>G (p.Thr576Ala) rs779116250 0.00004
NM_080680.3(COL11A2):c.1861C>A (p.Pro621Thr) rs121912952 0.00004
NM_080680.3(COL11A2):c.362G>A (p.Arg121His) rs148765616 0.00004
NM_080680.3(COL11A2):c.3883G>A (p.Glu1295Lys) rs758507327 0.00004
NM_080680.3(COL11A2):c.4481C>T (p.Pro1494Leu) rs758796613 0.00002
NM_080680.3(COL11A2):c.5A>G (p.Glu2Gly) rs568840295 0.00002
NM_080680.3(COL11A2):c.3059G>A (p.Arg1020Gln) rs779998311 0.00001
NM_080680.3(COL11A2):c.3775G>A (p.Asp1259Asn) rs1205676646 0.00001
NM_080680.3(COL11A2):c.3859G>C (p.Asp1287His) rs1219133025 0.00001
NM_080680.3(COL11A2):c.74G>A (p.Gly25Asp) rs1482152365 0.00001
NM_080680.3(COL11A2):c.97G>A (p.Asp33Asn) rs1268538634 0.00001
NM_080680.3(COL11A2):c.2128C>T (p.Pro710Ser) rs1583334125
NM_080680.3(COL11A2):c.2299G>A (p.Glu767Lys) rs1770799762
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.4540C>T (p.Arg1514Cys) rs780071501
NM_080680.3(COL11A2):c.4550A>G (p.Asp1517Gly) rs1769033329
NM_080680.3(COL11A2):c.4847G>T (p.Arg1616Met) rs1366292773

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