ClinVar Miner

List of variants in gene COL11A2 studied for autosomal dominant nonsyndromic hearing loss 13

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 84
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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.2186G>A (p.Arg729Gln) rs61730262 0.00339
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.4799G>A (p.Arg1600Gln) rs1799912 0.00052
NM_080680.3(COL11A2):c.2536C>T (p.Arg846Trp) rs149071920 0.00024
NM_080680.3(COL11A2):c.3289A>C (p.Thr1097Pro) rs138045609 0.00020
NM_080680.3(COL11A2):c.4230+13C>G rs200051654 0.00019
NM_080680.3(COL11A2):c.2921C>T (p.Ala974Val) rs376797260 0.00016
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.4587G>A (p.Pro1529=) rs765931315 0.00010
NM_080680.3(COL11A2):c.1378G>T (p.Gly460Trp) rs200635355 0.00008
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.4705C>T (p.Arg1569Cys) rs727504458 0.00006
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.2737-4C>T rs1322401943 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.283G>C (p.Gly95Arg) rs139813387 0.00002
NM_080680.3(COL11A2):c.3058C>T (p.Arg1020Ter) rs911722283 0.00002
NM_080680.3(COL11A2):c.5A>G (p.Glu2Gly) rs568840295 0.00002
NM_080680.3(COL11A2):c.1399G>A (p.Val467Met) rs755731113 0.00001
NM_080680.3(COL11A2):c.182G>A (p.Arg61Gln) rs761464756 0.00001
NM_080680.3(COL11A2):c.1999G>A (p.Gly667Ser) rs1322629595 0.00001
NM_080680.3(COL11A2):c.2179G>A (p.Gly727Arg) rs768569721 0.00001
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.3991C>T (p.Arg1331Ter) rs121912951 0.00001
NM_080680.3(COL11A2):c.798+67C>T rs772701006 0.00001
NM_080680.3(COL11A2):c.939+1G>A rs750173113 0.00001
NM_080680.3(COL11A2):c.97G>A (p.Asp33Asn) rs1268538634 0.00001
NM_080680.3(COL11A2):c.1218dup (p.Ala407fs)
NM_080680.3(COL11A2):c.1297C>T (p.Arg433Ter)
NM_080680.3(COL11A2):c.129_132dup (p.Asp45delinsProTer)
NM_080680.3(COL11A2):c.2062G>A (p.Gly688Arg)
NM_080680.3(COL11A2):c.2087_2090del (p.Glu696fs) rs1583335192
NM_080680.3(COL11A2):c.2114A>G (p.Gln705Arg)
NM_080680.3(COL11A2):c.2128C>T (p.Pro710Ser) rs1583334125
NM_080680.3(COL11A2):c.2215G>A (p.Gly739Ser)
NM_080680.3(COL11A2):c.2220G>T (p.Glu740Asp) rs202032297
NM_080680.3(COL11A2):c.2299G>A (p.Glu767Lys) rs1770799762
NM_080680.3(COL11A2):c.2423G>A (p.Gly808Glu) rs121912948
NM_080680.3(COL11A2):c.2567G>A (p.Gly856Glu)
NM_080680.3(COL11A2):c.2589dup (p.Ser864fs)
NM_080680.3(COL11A2):c.2682+26A>C rs9277932
NM_080680.3(COL11A2):c.2734_2736+14del
NM_080680.3(COL11A2):c.29T>G (p.Leu10Arg) rs2150637256
NM_080680.3(COL11A2):c.3031C>A (p.Pro1011Thr) rs997533180
NM_080680.3(COL11A2):c.3100C>T (p.Arg1034Cys) rs121912947
NM_080680.3(COL11A2):c.3142G>A (p.Gly1048Ser) rs1057524643
NM_080680.3(COL11A2):c.3295G>C (p.Gly1099Arg)
NM_080680.3(COL11A2):c.3313-3C>T rs755108811
NM_080680.3(COL11A2):c.3329dup (p.Gly1111fs)
NM_080680.3(COL11A2):c.3582+2_3582+3del
NM_080680.3(COL11A2):c.3676G>A (p.Glu1226Lys) rs1259912377
NM_080680.3(COL11A2):c.3746G>A (p.Gly1249Glu)
NM_080680.3(COL11A2):c.3827G>C (p.Gly1276Ala)
NM_080680.3(COL11A2):c.3852+1G>T
NM_080680.3(COL11A2):c.3890G>T (p.Gly1297Val)
NM_080680.3(COL11A2):c.4081A>T (p.Lys1361Ter)
NM_080680.3(COL11A2):c.4135C>T (p.Arg1379Ter) rs121912950
NM_080680.3(COL11A2):c.4142G>A (p.Gly1381Glu)
NM_080680.3(COL11A2):c.4798C>T (p.Arg1600Ter)
NM_080680.3(COL11A2):c.4991T>C (p.Leu1664Pro)
NM_080680.3(COL11A2):c.826G>A (p.Glu276Lys) rs9277934
NM_080680.3(COL11A2):c.966dup (p.Thr323fs) rs748440351
NM_080680.3(COL11A2):c.973G>A (p.Asp325Asn) rs369790491

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