ClinVar Miner

List of variants reported as benign for autosomal recessive nonsyndromic hearing loss 12

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 76
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_022124.6(CDH23):c.1753-43T>C rs1227042 0.92381
NM_022124.6(CDH23):c.4051A>G (p.Asn1351Asp) rs1227065 0.79969
NM_022124.6(CDH23):c.4206+131T>C rs1227061 0.77987
NM_022124.6(CDH23):c.4206+61T>A rs1227062 0.77967
NM_022124.6(CDH23):c.*349A>G rs1867978 0.77194
NM_022124.6(CDH23):c.366T>C (p.Val122=) rs3802720 0.74285
NM_022124.6(CDH23):c.146-125T>C rs2297953 0.74120
NM_022124.6(CDH23):c.429+26A>G rs3802718 0.73928
NM_022124.6(CDH23):c.429+13G>A rs3802719 0.73455
NM_022124.6(CDH23):c.4723G>A (p.Ala1575Thr) rs1227051 0.73017
NM_022124.6(CDH23):c.4618-77C>T rs1227052 0.72986
NM_022124.6(CDH23):c.2316T>C (p.Asn772=) rs3752752 0.62582
NM_022124.6(CDH23):c.2388T>C (p.Asp796=) rs3752751 0.62557
NM_022124.6(CDH23):c.2397+26T>C rs3752750 0.62554
NM_022124.6(CDH23):c.1134+164C>G rs7903772 0.61986
NM_022124.6(CDH23):c.4488+32C>G rs10762474 0.51502
NM_022124.6(CDH23):c.1135-128A>G rs10823810 0.51167
NM_022124.6(CDH23):c.1753-78A>T rs3802717 0.49901
NM_022124.6(CDH23):c.832+101G>A rs6480531 0.42446
NM_022124.6(CDH23):c.4846-49T>C rs7917781 0.41434
NM_022124.6(CDH23):c.5996C>G (p.Thr1999Ser) rs11592462 0.40744
NM_022124.6(CDH23):c.5187+99T>C rs10762481 0.39527
NM_022124.6(CDH23):c.-5-83C>A rs4747153 0.37515
NM_022124.6(CDH23):c.7055-16A>G rs4747193 0.34615
NM_022124.6(CDH23):c.2060-176C>T rs2290026 0.33636
NM_022124.6(CDH23):c.7073G>A (p.Arg2358Gln) rs4747194 0.28536
NM_022124.6(CDH23):c.6130G>A (p.Glu2044Lys) rs10466026 0.28442
NM_022124.6(CDH23):c.7139C>T (p.Pro2380Leu) rs4747195 0.27841
NM_022124.6(CDH23):c.6830-81G>A rs7068357 0.27610
NM_022124.6(CDH23):c.7572G>A (p.Ala2524=) rs10823849 0.27322
NM_022124.6(CDH23):c.1487G>A (p.Ser496Asn) rs10999947 0.27136
NM_022124.6(CDH23):c.2059+79C>T rs1227086 0.25536
NM_022124.6(CDH23):c.5503-44T>C rs7068810 0.20565
NM_022124.6(CDH23):c.1469G>C (p.Gly490Ala) rs1227049 0.20047
NM_022124.6(CDH23):c.5100C>T (p.Tyr1700=) rs10762480 0.19882
NM_022124.6(CDH23):c.3370-46T>C rs3802712 0.17108
NM_022124.6(CDH23):c.9077+8G>A rs11818398 0.15161
NM_022124.6(CDH23):c.3009T>C (p.Ser1003=) rs10823829 0.15109
NM_022124.6(CDH23):c.5503-10A>G rs2394839 0.14568
NM_022124.6(CDH23):c.5023G>A (p.Val1675Ile) rs17712523 0.14536
NM_022124.6(CDH23):c.1449+130T>C rs2305209 0.14152
NM_022124.6(CDH23):c.5411G>A (p.Arg1804Gln) rs3802711 0.14136
NM_022124.6(CDH23):c.*204A>G rs2290022 0.13799
NM_022124.6(CDH23):c.1290+217T>C rs2305208 0.13525
NM_022124.6(CDH23):c.7C>T (p.Arg3Cys) rs7902757 0.12266
NM_022124.6(CDH23):c.8895C>T (p.Pro2965=) rs11000009 0.10990
NM_022124.6(CDH23):c.9319+11G>A rs11000013 0.10868
NM_022124.6(CDH23):c.9873G>A (p.Thr3291=) rs2290021 0.08719
NM_022124.6(CDH23):c.-1C>T rs41281302 0.08269
NM_022124.6(CDH23):c.7225-22C>T rs3802708 0.07941
NM_022124.6(CDH23):c.*510G>A rs1054635 0.07812
NM_022124.6(CDH23):c.1053C>T (p.Ser351=) rs7903475 0.07481
NM_022124.6(CDH23):c.625-93G>A rs736717 0.05549
NM_022124.6(CDH23):c.3580-12C>T rs73275848 0.05331
NM_022124.6(CDH23):c.67+12C>T rs74144963 0.05182
NM_022124.6(CDH23):c.3625A>G (p.Thr1209Ala) rs41281314 0.04612
NM_022124.6(CDH23):c.9373T>C (p.Phe3125Leu) rs45583140 0.04021
NM_022124.6(CDH23):c.4509C>T (p.Gly1503=) rs10999978 0.03956
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.2060-19C>G rs2290024 0.02940
NM_022124.6(CDH23):c.3664G>A (p.Ala1222Thr) rs41281316 0.02047
NM_022124.6(CDH23):c.2424G>A (p.Gly808=) rs76601590 0.01745
NM_022124.6(CDH23):c.7467C>T (p.Arg2489=) rs111033289 0.01726
NM_022124.6(CDH23):c.4299T>A (p.Pro1433=) rs12218559 0.01724
NM_022124.6(CDH23):c.4359+11G>A rs12242607 0.01676
NM_022124.6(CDH23):c.4341T>C (p.Asp1447=) rs12218564 0.01509
NM_022124.6(CDH23):c.4858G>A (p.Val1620Met) rs41281330 0.01037
NM_022124.6(CDH23):c.1038G>A (p.Pro346=) rs74608315 0.00950
NM_022124.6(CDH23):c.8907C>T (p.Arg2969=) rs11000010 0.00740
NM_022124.6(CDH23):c.9510+13C>T rs183692794 0.00379
NM_022124.6(CDH23):c.2263C>T (p.His755Tyr) rs181255269 0.00078
NM_022124.6(CDH23):c.3430+114T>C rs7893748
NM_022124.6(CDH23):c.5187+44C>G rs10740390
NM_022124.6(CDH23):c.5187+73C>T rs10823843
NM_022124.6(CDH23):c.5418C>G (p.Asp1806Glu) rs74145660

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.