ClinVar Miner

List of variants in gene CDH23 reported by Genome-Nilou Lab

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Gene type:
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Total variants: 102
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HGVS dbSNP gnomAD frequency
NM_022124.6(CDH23):c.1753-43T>C rs1227042 0.92381
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.624+64C>T rs7087735 0.34986
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.1487G>A (p.Ser496Asn) rs10999947 0.27136
NM_022124.6(CDH23):c.1987-123G>A rs1227087 0.26320
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.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.4846-79G>A rs41281328 0.13922
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.-1C>T rs41281302 0.08269
NM_022124.6(CDH23):c.7225-22C>T rs3802708 0.07941
NM_022124.6(CDH23):c.625-93G>A rs736717 0.05549
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.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.4858G>A (p.Val1620Met) rs41281330 0.01037
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.5544C>T (p.Asp1848=) rs142131750 0.00488
NM_022124.6(CDH23):c.3074G>A (p.Gly1025Asp) rs143179070 0.00358
NM_022124.6(CDH23):c.2970C>T (p.Asp990=) rs56216952 0.00289
NM_022124.6(CDH23):c.1307G>A (p.Ser436Asn) rs111033369 0.00248
NM_022124.6(CDH23):c.198G>A (p.Val66=) rs111033288 0.00103
NM_022124.6(CDH23):c.2263C>T (p.His755Tyr) rs181255269 0.00078
NM_022124.6(CDH23):c.6918G>A (p.Leu2306=) rs146819206 0.00063
NM_022124.6(CDH23):c.7823G>A (p.Arg2608His) rs202052174 0.00059
NM_022124.6(CDH23):c.1078C>T (p.Leu360=) rs185917383 0.00048
NM_022124.6(CDH23):c.7468G>A (p.Glu2490Lys) rs41281336 0.00035
NM_022124.6(CDH23):c.1814C>T (p.Ala605Val) rs201475055 0.00029
NM_022124.6(CDH23):c.4892C>T (p.Ala1631Val) rs370762269 0.00025
NM_022124.6(CDH23):c.9928C>T (p.Arg3310Cys) rs200124827 0.00018
NM_022124.6(CDH23):c.2926A>G (p.Ser976Gly) rs372401651 0.00016
NM_022124.6(CDH23):c.2235C>T (p.Ile745=) rs368841307 0.00012
NM_022124.6(CDH23):c.1672G>A (p.Val558Met) rs780661396 0.00011
NM_022124.6(CDH23):c.5026G>A (p.Ala1676Thr) rs56043301 0.00009
NM_022124.6(CDH23):c.6446G>A (p.Arg2149Gln) rs377376107 0.00007
NM_022124.6(CDH23):c.2551G>A (p.Glu851Lys) rs771795434 0.00006
NM_022124.6(CDH23):c.8444G>A (p.Arg2815His) rs376835293 0.00004
NM_022124.6(CDH23):c.1685A>G (p.Gln562Arg) rs397517311 0.00003
NM_022124.6(CDH23):c.1472C>T (p.Thr491Ile) rs397517307 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.8071T>C (p.Leu2691=) rs767480784 0.00002
NM_022124.6(CDH23):c.1666G>A (p.Asp556Asn) rs374014052 0.00001
NM_022124.6(CDH23):c.2782C>T (p.Arg928Cys) rs775017408 0.00001
NM_022124.6(CDH23):c.2833G>A (p.Gly945Ser) rs760043975 0.00001
NM_022124.6(CDH23):c.4286C>G (p.Pro1429Arg) rs747673739 0.00001
NM_022124.6(CDH23):c.5030G>A (p.Gly1677Asp) rs1465588529 0.00001
NM_022124.6(CDH23):c.9538G>T (p.Val3180Phe) rs557490269 0.00001
NM_022124.6(CDH23):c.2100C>T (p.Arg700=) rs2132705726
NM_022124.6(CDH23):c.2432G>A (p.Gly811Asp) rs1203928940
NM_022124.6(CDH23):c.2817C>T (p.Leu939=) rs2132739969
NM_022124.6(CDH23):c.4663C>G (p.Arg1555Gly) rs773842427
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
NM_022124.6(CDH23):c.5953A>T (p.Ile1985Phe) rs2132947982
NM_022124.6(CDH23):c.6047C>T (p.Thr2016Ile) rs2132948196
NM_022124.6(CDH23):c.605A>C (p.Gln202Pro) rs2132359067
NM_022124.6(CDH23):c.6343C>T (p.Arg2115Cys) rs375329233
NM_022124.6(CDH23):c.7393C>T (p.Arg2465Trp) rs760879110
NM_022124.6(CDH23):c.7849G>C (p.Gly2617Arg) rs369379727
NM_022124.6(CDH23):c.845G>A (p.Ser282Asn) rs2132514962
NM_022124.6(CDH23):c.9382G>A (p.Ala3128Thr) rs2133006667
NM_022124.6(CDH23):c.9587ACA[1] (p.Asn3197del) rs763993100
NM_022124.6(CDH23):c.9937G>A (p.Glu3313Lys) rs2133017674

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