ClinVar Miner

List of variants in gene CDH23 reported as likely benign by Breakthrough Genomics, Breakthrough Genomics

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Gene type:
ClinVar version:
Total variants: 68
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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.6847G>A (p.Val2283Ile) rs41281334 0.03832
NM_022124.6(CDH23):c.4310G>A (p.Arg1437Gln) rs56181447 0.03706
NM_022124.6(CDH23):c.1291-89C>T rs76800802 0.02627
NM_022124.6(CDH23):c.6492C>T (p.Ile2164=) rs41281332 0.02419
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.832+145T>G rs116198763 0.01422
NM_022124.6(CDH23):c.146-120C>T rs116150071 0.01419
NM_022124.6(CDH23):c.146-153C>A rs115584464 0.01418
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.9320-34C>T rs41281342 0.01409
NM_022124.6(CDH23):c.68-168C>T rs73283717 0.01288
NM_022124.6(CDH23):c.8179-138C>T rs7085713 0.01261
NM_022124.6(CDH23):c.67+172G>A rs7903245 0.01209
NM_022124.6(CDH23):c.1423G>A (p.Val475Met) rs62622410 0.01173
NM_022124.6(CDH23):c.1859-47T>G rs138560543 0.01136
NM_022124.6(CDH23):c.7362+103G>A rs117982608 0.01131
NM_022124.6(CDH23):c.2176+199G>A rs74591700 0.01074
NM_022124.6(CDH23):c.4858G>A (p.Val1620Met) rs41281330 0.01037
NM_022124.6(CDH23):c.3220+188G>A rs78573670 0.01013
NM_022124.6(CDH23):c.289-27C>A rs77615708 0.00991
NM_022124.6(CDH23):c.145+26C>T rs115158212 0.00947
NM_022124.6(CDH23):c.1134+105C>T rs148329245 0.00927
NM_022124.6(CDH23):c.1449+74G>T rs115450602 0.00906
NM_022124.6(CDH23):c.5924-90G>A rs55768030 0.00901
NM_022124.6(CDH23):c.288+73G>A rs140660899 0.00724
NM_022124.6(CDH23):c.1134+22C>T rs115745871 0.00690
NM_022124.6(CDH23):c.2290-94T>C rs145263672 0.00666
NM_022124.6(CDH23):c.1449+76C>A rs41281304 0.00518
NM_022124.6(CDH23):c.8179-168G>A rs7085925 0.00487
NM_022124.6(CDH23):c.8179-195C>T rs148824490 0.00429
NM_022124.6(CDH23):c.9738+198G>C rs114968425 0.00413
NM_022124.6(CDH23):c.7224+37C>T rs150381013 0.00322
NM_022124.6(CDH23):c.9204G>A (p.Ala3068=) rs192266658 0.00281
NM_022124.6(CDH23):c.8808C>T (p.Asp2936=) rs148743086 0.00262
NM_022124.6(CDH23):c.754-35G>T rs144994794 0.00260
NM_022124.6(CDH23):c.8723-47G>A rs373776256 0.00181
NM_022124.6(CDH23):c.4210-14A>C rs149441656 0.00179
NM_022124.6(CDH23):c.5067+39C>A rs371702913 0.00153
NM_022124.6(CDH23):c.6275C>T (p.Thr2092Ile) rs145868749 0.00111
NM_022124.6(CDH23):c.9078-50G>C rs139221646 0.00097
NM_022124.6(CDH23):c.5541C>T (p.Asn1847=) rs148632119 0.00069
NM_022124.6(CDH23):c.1141-198C>T rs570543680 0.00016
NM_022124.6(CDH23):c.9771A>C (p.Gly3257=) rs373249121 0.00010
NM_022124.6(CDH23):c.612G>A (p.Thr204=) rs200200488 0.00007
NM_022124.6(CDH23):c.5796G>A (p.Pro1932=) rs370965108 0.00005
NM_022124.6(CDH23):c.4230C>T (p.Asp1410=) rs762720558 0.00004
NM_022124.6(CDH23):c.1920G>A (p.Thr640=) rs779025760 0.00003
NM_022124.6(CDH23):c.2059+18G>A rs201712138 0.00003
NM_022124.6(CDH23):c.384C>T (p.Asn128=) rs766060083 0.00001
NM_022124.6(CDH23):c.4977A>G (p.Ala1659=) rs778757522 0.00001
NM_022124.6(CDH23):c.585C>T (p.Tyr195=) rs1161151314 0.00001
NM_022124.6(CDH23):c.4210-71C>T rs117155162
NM_022124.6(CDH23):c.4272G>A (p.Ser1424=)
NM_022124.6(CDH23):c.5051G>A (p.Arg1684His) rs111033475
NM_022124.6(CDH23):c.5418C>G (p.Asp1806Glu) rs74145660
NM_022124.6(CDH23):c.6549G>A (p.Val2183=)
NM_022124.6(CDH23):c.67+19G>A rs115543769
NM_022124.6(CDH23):c.7452A>G (p.Val2484=) rs1589429545

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