ClinVar Miner

List of variants in gene CDH23 reported as likely benign for Usher syndrome type 1

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Total variants: 65
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HGVS dbSNP gnomAD frequency
NM_022124.6(CDH23):c.1423G>A (p.Val475Met) rs62622410 0.01173
NM_022124.6(CDH23):c.6596T>A (p.Ile2199Asn) rs111033494 0.00368
NM_022124.6(CDH23):c.9204G>A (p.Ala3068=) rs192266658 0.00281
NM_022124.6(CDH23):c.6713-8G>A rs369946986 0.00176
NM_022124.6(CDH23):c.3010G>A (p.Val1004Met) rs79705488 0.00151
NM_022124.6(CDH23):c.6329C>T (p.Ala2110Val) rs111033492 0.00150
NM_022124.6(CDH23):c.6648C>T (p.Ala2216=) rs186394654 0.00124
NM_022124.6(CDH23):c.2830A>G (p.Ser944Gly) rs188098974 0.00091
NM_022124.6(CDH23):c.6429G>A (p.Thr2143=) rs142788731 0.00069
NM_022124.6(CDH23):c.6918G>A (p.Leu2306=) rs146819206 0.00063
NM_022124.6(CDH23):c.1446C>A (p.Val482=) rs200324241 0.00053
NM_022124.6(CDH23):c.67+8C>T rs186548927 0.00051
NM_022124.6(CDH23):c.10044C>G (p.Pro3348=) rs370568585 0.00033
NM_022124.6(CDH23):c.8859C>T (p.Asp2953=) rs11000008 0.00028
NM_022124.6(CDH23):c.6489G>C (p.Leu2163=) rs111033493 0.00025
NM_022124.6(CDH23):c.1595C>T (p.Thr532Met) rs201297042 0.00023
NM_022124.6(CDH23):c.4542G>A (p.Gln1514=) rs559831834 0.00019
NM_022124.6(CDH23):c.2891G>A (p.Arg964Gln) rs376560330 0.00014
NM_022124.6(CDH23):c.5055C>T (p.Ile1685=) rs377269771 0.00013
NM_022124.6(CDH23):c.2235C>T (p.Ile745=) rs368841307 0.00012
NM_022124.6(CDH23):c.3186C>A (p.Thr1062=) rs201589645 0.00010
NM_022124.6(CDH23):c.4704C>T (p.Thr1568=) rs186866326 0.00010
NM_022124.6(CDH23):c.1282G>A (p.Asp428Asn) rs188376296 0.00009
NM_022124.6(CDH23):c.7245G>A (p.Val2415=) rs751865337 0.00009
NM_022124.6(CDH23):c.5442C>T (p.Ile1814=) rs373768157 0.00008
NM_022124.6(CDH23):c.2766C>T (p.Asn922=) rs371670151 0.00006
NM_022124.6(CDH23):c.6366C>T (p.Thr2122=) rs368440578 0.00006
NM_022124.6(CDH23):c.738C>T (p.Tyr246=) rs745668474 0.00006
NM_022124.6(CDH23):c.9639G>A (p.Ser3213=) rs751829738 0.00006
NM_022124.6(CDH23):c.1410C>T (p.Tyr470=) rs549569431 0.00005
NM_022124.6(CDH23):c.2419C>T (p.Leu807=) rs748582000 0.00005
NM_022124.6(CDH23):c.30C>T (p.His10=) rs572955107 0.00005
NM_022124.6(CDH23):c.3106+11G>A rs759689776 0.00005
NM_022124.6(CDH23):c.330C>T (p.His110=) rs201232514 0.00005
NM_022124.6(CDH23):c.8913C>T (p.Phe2971=) rs915502924 0.00005
NM_022124.6(CDH23):c.1584C>T (p.Arg528=) rs397517309 0.00004
NM_022124.6(CDH23):c.1665C>T (p.Asn555=) rs397517310 0.00004
NM_022124.6(CDH23):c.4230C>T (p.Asp1410=) rs762720558 0.00004
NM_022124.6(CDH23):c.5535C>T (p.Asn1845=) rs779425775 0.00004
NM_022124.6(CDH23):c.8444G>A (p.Arg2815His) rs376835293 0.00004
NM_022124.6(CDH23):c.2994C>T (p.Ala998=) rs767831814 0.00003
NM_022124.6(CDH23):c.4620C>T (p.Asn1540=) rs111033490 0.00003
NM_022124.6(CDH23):c.5610C>T (p.Val1870=) rs568993739 0.00003
NM_022124.6(CDH23):c.6855C>T (p.Asp2285=) rs750385396 0.00003
NM_022124.6(CDH23):c.6870G>A (p.Thr2290=) rs778092747 0.00003
NM_022124.6(CDH23):c.1263C>T (p.Tyr421=) rs528720730 0.00002
NM_022124.6(CDH23):c.1317C>T (p.Asp439=) rs748828988 0.00002
NM_022124.6(CDH23):c.2112C>T (p.Tyr704=) rs565266663 0.00002
NM_022124.6(CDH23):c.414C>T (p.Ser138=) rs745908110 0.00002
NM_022124.6(CDH23):c.4589C>T (p.Pro1530Leu) rs554938323 0.00002
NM_022124.6(CDH23):c.5066T>C (p.Met1689Thr) rs397517334 0.00002
NM_022124.6(CDH23):c.9858C>T (p.His3286=) rs761835004 0.00002
NM_022124.6(CDH23):c.3192C>T (p.Ala1064=) rs767119185 0.00001
NM_022124.6(CDH23):c.4425C>T (p.Ser1475=) rs554295504 0.00001
NM_022124.6(CDH23):c.4536C>A (p.Ile1512=) rs191759543 0.00001
NM_022124.6(CDH23):c.5112C>T (p.His1704=) rs774919846 0.00001
NM_022124.6(CDH23):c.7086C>T (p.Tyr2362=) rs1287792582 0.00001
NM_022124.6(CDH23):c.7131C>T (p.Asn2377=) rs369805384 0.00001
NM_022124.6(CDH23):c.777C>A (p.Thr259=) rs542798557 0.00001
NM_022124.6(CDH23):c.9237C>T (p.Ala3079=) rs753289128 0.00001
NM_022124.6(CDH23):c.2193G>C (p.Thr731=) rs397517315
NM_022124.6(CDH23):c.2751C>T (p.Leu917=) rs369180032
NM_022124.6(CDH23):c.3162C>G (p.Thr1054=) rs377259987
NM_022124.6(CDH23):c.5051G>A (p.Arg1684His) rs111033475
NM_022124.6(CDH23):c.6169A>G (p.Ile2057Val) rs573057228

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