ClinVar Miner

List of variants in gene CDH23 reported as likely benign for autosomal recessive nonsyndromic hearing loss 12

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_022124.6(CDH23):c.624+64C>T rs7087735 0.34986
NM_022124.6(CDH23):c.1987-123G>A rs1227087 0.26320
NM_022124.6(CDH23):c.4846-79G>A rs41281328 0.13922
NM_022124.6(CDH23):c.8895C>T (p.Pro2965=) rs11000009 0.10990
NM_022124.6(CDH23):c.-258G>A rs139742443 0.03851
NM_022124.6(CDH23):c.4310G>A (p.Arg1437Gln) rs56181447 0.03706
NM_022124.6(CDH23):c.6492C>T (p.Ile2164=) rs41281332 0.02419
NM_022124.6(CDH23):c.429+18T>C rs141451003 0.02288
NM_022124.6(CDH23):c.1134+13A>G rs7903502 0.02225
NM_022124.6(CDH23):c.6249G>A (p.Pro2083=) rs55964031 0.02131
NM_022124.6(CDH23):c.2958G>A (p.Leu986=) rs74702249 0.01745
NM_022124.6(CDH23):c.7467C>T (p.Arg2489=) rs111033289 0.01726
NM_022124.6(CDH23):c.4210-7C>T rs79271090 0.01600
NM_022124.6(CDH23):c.204C>T (p.Gly68=) rs116624130 0.01418
NM_022124.6(CDH23):c.173A>G (p.Gln58Arg) rs61732490 0.01415
NM_022124.6(CDH23):c.1423G>A (p.Val475Met) rs62622410 0.01173
NM_022124.6(CDH23):c.4858G>A (p.Val1620Met) rs41281330 0.01037
NM_022124.6(CDH23):c.4846-19G>C rs80261750 0.00835
NM_022124.6(CDH23):c.7762G>C (p.Glu2588Gln) rs41281338 0.00677
NM_022124.6(CDH23):c.8980-14C>A rs45522532 0.00642
NM_022124.6(CDH23):c.1449+76C>A rs41281304 0.00518
NM_022124.6(CDH23):c.2263C>T (p.His755Tyr) rs181255269 0.00078
NM_022124.6(CDH23):c.5541C>T (p.Asn1847=) rs148632119 0.00069
NM_022124.6(CDH23):c.832+8A>G rs56129333 0.00048
NM_022124.6(CDH23):c.6197G>A (p.Arg2066Gln) rs201887949 0.00010
NM_022124.6(CDH23):c.5131G>A (p.Val1711Ile) rs181611778 0.00007
NM_022124.6(CDH23):c.8401T>G (p.Phe2801Val) rs3802707 0.00006
NM_022124.6(CDH23):c.5660C>T (p.Thr1887Ile) rs397517340 0.00003
NM_022124.6(CDH23):c.9014C>G (p.Ala3005Gly) rs188966938 0.00003
NM_022124.6(CDH23):c.4589C>T (p.Pro1530Leu) rs554938323 0.00002
NM_022124.6(CDH23):c.7145G>A (p.Arg2382Gln) rs759439688 0.00001
NM_022124.6(CDH23):c.5130C>T (p.Ile1710=) rs111033487
NM_022124.6(CDH23):c.7113C>T (p.Thr2371=) rs747544364
NM_022124.6(CDH23):c.8120_8121delinsTT (p.Pro2707Leu) rs876657422
NM_022124.6(CDH23):c.8121G>T (p.Pro2707=) rs377535432
NM_022124.6(CDH23):c.8229C>T (p.Arg2743=) rs372996083
NM_022124.6(CDH23):c.9885C>T (p.Thr3295=) rs1382062973

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