ClinVar Miner

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

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 56
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HGVS dbSNP
NM_022124.6(CDH23):c.*173C>T
NM_022124.6(CDH23):c.-1C>T rs41281302
NM_022124.6(CDH23):c.-258G>A rs139742443
NM_022124.6(CDH23):c.1038G>A (p.Pro346=) rs74608315
NM_022124.6(CDH23):c.1053C>T (p.Ser351=) rs7903475
NM_022124.6(CDH23):c.1134+13A>G rs7903502
NM_022124.6(CDH23):c.1423G>A (p.Val475Met) rs62622410
NM_022124.6(CDH23):c.1469G>C (p.Gly490Ala) rs1227049
NM_022124.6(CDH23):c.1487G>A (p.Ser496Asn) rs10999947
NM_022124.6(CDH23):c.173A>G (p.Gln58Arg) rs61732490
NM_022124.6(CDH23):c.204C>T (p.Gly68=) rs116624130
NM_022124.6(CDH23):c.2316T>C (p.Asn772=) rs3752752
NM_022124.6(CDH23):c.2388T>C (p.Asp796=) rs3752751
NM_022124.6(CDH23):c.2424G>A (p.Gly808=) rs76601590
NM_022124.6(CDH23):c.2878G>A (p.Glu960Lys) rs111033458
NM_022124.6(CDH23):c.2958G>A (p.Leu986=) rs74702249
NM_022124.6(CDH23):c.3009T>C (p.Ser1003=) rs10823829
NM_022124.6(CDH23):c.3074G>A (p.Gly1025Asp) rs143179070
NM_022124.6(CDH23):c.366T>C (p.Val122=) rs3802720
NM_022124.6(CDH23):c.4210-7C>T rs79271090
NM_022124.6(CDH23):c.429+13G>A rs3802719
NM_022124.6(CDH23):c.4299T>A (p.Pro1433=) rs12218559
NM_022124.6(CDH23):c.4310G>A (p.Arg1437Gln) rs56181447
NM_022124.6(CDH23):c.4341T>C (p.Asp1447=) rs12218564
NM_022124.6(CDH23):c.4359+11G>A rs12242607
NM_022124.6(CDH23):c.4509C>T (p.Gly1503=) rs10999978
NM_022124.6(CDH23):c.4723G>A (p.Ala1575Thr) rs1227051
NM_022124.6(CDH23):c.4858G>A (p.Val1620Met) rs41281330
NM_022124.6(CDH23):c.5023G>A (p.Val1675Ile) rs17712523
NM_022124.6(CDH23):c.5100C>T (p.Tyr1700=) rs10762480
NM_022124.6(CDH23):c.510C>T (p.Ser170=) rs143341423
NM_022124.6(CDH23):c.5312G>A (p.Arg1771Gln) rs111033480
NM_022124.6(CDH23):c.5411G>A (p.Arg1804Gln) rs3802711
NM_022124.6(CDH23):c.5503-10A>G rs2394839
NM_022124.6(CDH23):c.5541C>T (p.Asn1847=) rs148632119
NM_022124.6(CDH23):c.5660C>T (p.Thr1887Ile) rs397517340
NM_022124.6(CDH23):c.5996C>G (p.Thr1999Ser) rs11592462
NM_022124.6(CDH23):c.6130G>A (p.Glu2044Lys) rs10466026
NM_022124.6(CDH23):c.6197G>A (p.Arg2066Gln) rs201887949
NM_022124.6(CDH23):c.6249G>A (p.Pro2083=) rs55964031
NM_022124.6(CDH23):c.6492C>T (p.Ile2164=) rs41281332
NM_022124.6(CDH23):c.67+12C>T rs74144963
NM_022124.6(CDH23):c.6847G>A (p.Val2283Ile) rs41281334
NM_022124.6(CDH23):c.6852G>C (p.Leu2284=) rs56013867
NM_022124.6(CDH23):c.6918G>A (p.Leu2306=) rs146819206
NM_022124.6(CDH23):c.7073G>A (p.Arg2358Gln) rs4747194
NM_022124.6(CDH23):c.7139C>T (p.Pro2380Leu) rs4747195
NM_022124.6(CDH23):c.7467C>T (p.Arg2489=) rs111033289
NM_022124.6(CDH23):c.7572G>A (p.Ala2524=) rs10823849
NM_022124.6(CDH23):c.7C>T (p.Arg3Cys) rs7902757
NM_022124.6(CDH23):c.8167G>C (p.Val2723Leu) rs142857685
NM_022124.6(CDH23):c.8895C>T (p.Pro2965=) rs11000009
NM_022124.6(CDH23):c.8907C>T (p.Arg2969=) rs11000010
NM_022124.6(CDH23):c.9014C>G (p.Ala3005Gly) rs188966938
NM_022124.6(CDH23):c.9077+8G>A rs11818398
NM_022124.6(CDH23):c.9238G>A (p.Ala3080Thr) rs369395479

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