ClinVar Miner

List of variants reported as pathogenic for Charcot-Marie-Tooth Neuropathy X by Labcorp Genetics (formerly Invitae), Labcorp

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ClinVar version:
Total variants: 144
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HGVS dbSNP gnomAD frequency
NM_000166.6(GJB1):c.319C>T (p.Arg107Trp) rs863224973 0.00005
NM_000166.6(GJB1):c.305A>G (p.Glu102Gly) rs779696968 0.00001
NM_000166.6(GJB1):c.415G>A (p.Val139Met) rs104894812 0.00001
NM_000166.6(GJB1):c.424C>T (p.Arg142Trp) rs104894810 0.00001
NM_000166.6(GJB1):c.490C>T (p.Arg164Trp) rs139643362 0.00001
NM_000166.6(GJB1):c.491G>A (p.Arg164Gln) rs1241595912 0.00001
NM_000166.6(GJB1):c.514C>T (p.Pro172Ser) rs104894811 0.00001
NM_000166.6(GJB1):c.83T>A (p.Ile28Asn) rs768834663 0.00001
NC_000023.10:g.(?_106046084)_(108868249_?)del
NC_000023.10:g.(?_70443558)_(70444409_?)del
NC_000023.11:g.(?_71223168)_(71224569_?)del
NC_000023.11:g.(?_71223168)_(71224579_?)del
NM_000166.6(GJB1):c.*15C>T rs1057520778
NM_000166.6(GJB1):c.-103C>T rs863224971
NM_000166.6(GJB1):c.-16-35_264del
NM_000166.6(GJB1):c.-17G>A rs879254047
NM_000166.6(GJB1):c.100A>G (p.Met34Val) rs1569215061
NM_000166.6(GJB1):c.101T>C (p.Met34Thr) rs1060500998
NM_000166.6(GJB1):c.109G>T (p.Val37Leu) rs1057518946
NM_000166.6(GJB1):c.111_112dup (p.Val38fs) rs2092542575
NM_000166.6(GJB1):c.112G>A (p.Val38Met) rs879254012
NM_000166.6(GJB1):c.116C>T (p.Ala39Val) rs786204095
NM_000166.6(GJB1):c.119C>T (p.Ala40Val) rs1602348786
NM_000166.6(GJB1):c.124_125del (p.Ser42fs) rs1602348794
NM_000166.6(GJB1):c.131G>A (p.Trp44Ter)
NM_000166.6(GJB1):c.132G>A (p.Trp44Ter) rs879253935
NM_000166.6(GJB1):c.134dup (p.Gly45_Asp46insTer)
NM_000166.6(GJB1):c.151T>C (p.Phe51Leu) rs876661269
NM_000166.6(GJB1):c.157del (p.Cys53fs)
NM_000166.6(GJB1):c.164C>T (p.Thr55Ile) rs104894824
NM_000166.6(GJB1):c.171dup (p.Pro58fs)
NM_000166.6(GJB1):c.178T>C (p.Cys60Arg) rs1060501004
NM_000166.6(GJB1):c.183dup (p.Ser62fs) rs1555937084
NM_000166.6(GJB1):c.184A>C (p.Ser62Arg)
NM_000166.6(GJB1):c.186C>A (p.Ser62Arg)
NM_000166.6(GJB1):c.187G>A (p.Val63Ile) rs116840818
NM_000166.6(GJB1):c.191G>A (p.Cys64Tyr) rs1602348897
NM_000166.6(GJB1):c.192C>A (p.Cys64Ter)
NM_000166.6(GJB1):c.194A>G (p.Tyr65Cys) rs104894819
NM_000166.6(GJB1):c.195T>G (p.Tyr65Ter) rs1602348907
NM_000166.6(GJB1):c.199C>T (p.Gln67Ter) rs2092543211
NM_000166.6(GJB1):c.1A>G (p.Met1Val)
NM_000166.6(GJB1):c.205T>C (p.Phe69Leu) rs1602348917
NM_000166.6(GJB1):c.208C>G (p.Pro70Ala) rs878853697
NM_000166.6(GJB1):c.208C>T (p.Pro70Ser) rs878853697
NM_000166.6(GJB1):c.223C>T (p.Arg75Trp) rs116840819
NM_000166.6(GJB1):c.224G>A (p.Arg75Gln) rs863224972
NM_000166.6(GJB1):c.227dup (p.Trp77fs)
NM_000166.6(GJB1):c.231G>A (p.Trp77Ter) rs879254096
NM_000166.6(GJB1):c.238C>A (p.Gln80Lys) rs1602348981
NM_000166.6(GJB1):c.238C>T (p.Gln80Ter) rs1602348981
NM_000166.6(GJB1):c.239A>G (p.Gln80Arg) rs879254097
NM_000166.6(GJB1):c.241C>T (p.Leu81Phe) rs876661143
NM_000166.6(GJB1):c.250del (p.Val84fs) rs2147945660
NM_000166.6(GJB1):c.259C>G (p.Pro87Ala) rs587777877
NM_000166.6(GJB1):c.264_280del (p.Leu89fs) rs2147945690
NM_000166.6(GJB1):c.265C>G (p.Leu89Val) rs1602349029
NM_000166.6(GJB1):c.266T>C (p.Leu89Pro) rs1555937122
NM_000166.6(GJB1):c.271G>A (p.Val91Met) rs756928158
NM_000166.6(GJB1):c.277A>G (p.Met93Val) rs1602349066
NM_000166.6(GJB1):c.282C>A (p.His94Gln) rs756000896
NM_000166.6(GJB1):c.283G>A (p.Val95Met) rs104894821
NM_000166.6(GJB1):c.286G>C (p.Ala96Pro) rs1602349112
NM_000166.6(GJB1):c.287C>G (p.Ala96Gly) rs11551260
NM_000166.6(GJB1):c.292C>T (p.Gln98Ter) rs2092543877
NM_000166.6(GJB1):c.298C>T (p.His100Tyr) rs1602349131
NM_000166.6(GJB1):c.2T>A (p.Met1Lys) rs1602348519
NM_000166.6(GJB1):c.2T>C (p.Met1Thr) rs1602348519
NM_000166.6(GJB1):c.304_306del (p.Glu102del) rs1555937135
NM_000166.6(GJB1):c.310A>T (p.Lys104Ter)
NM_000166.6(GJB1):c.316_320del (p.Leu106fs) rs2147945853
NM_000166.6(GJB1):c.343dup (p.Leu115fs) rs1555937150
NM_000166.6(GJB1):c.345dup (p.His116fs)
NM_000166.6(GJB1):c.35G>A (p.Gly12Asp) rs1569214985
NM_000166.6(GJB1):c.371_377delinsTCTTCACCT (p.Lys124fs)
NM_000166.6(GJB1):c.371del (p.Lys124fs) rs1602349248
NM_000166.6(GJB1):c.386G>A (p.Gly129Glu) rs1602349280
NM_000166.6(GJB1):c.394_395del (p.Trp132fs) rs1555937168
NM_000166.6(GJB1):c.396G>A (p.Trp132Ter) rs1602349293
NM_000166.6(GJB1):c.396del (p.Trp132fs) rs879253946
NM_000166.6(GJB1):c.3G>C (p.Met1Ile)
NM_000166.6(GJB1):c.416T>G (p.Val139Gly) rs2147946105
NM_000166.6(GJB1):c.425G>A (p.Arg142Gln) rs786204123
NM_000166.6(GJB1):c.434T>G (p.Phe145Cys) rs1602349341
NM_000166.6(GJB1):c.435del (p.Phe145fs)
NM_000166.6(GJB1):c.43C>T (p.Arg15Trp) rs116840815
NM_000166.6(GJB1):c.443_446delinsGAACAC (p.Val148fs) rs2092544789
NM_000166.6(GJB1):c.44G>A (p.Arg15Gln) rs863224974
NM_000166.6(GJB1):c.450del (p.Met150fs)
NM_000166.6(GJB1):c.454del (p.Val152fs) rs1602349383
NM_000166.6(GJB1):c.456_457dup (p.Phe153fs)
NM_000166.6(GJB1):c.461_464dup (p.Leu156fs) rs2147946234
NM_000166.6(GJB1):c.462T>G (p.Tyr154Ter) rs879254098
NM_000166.6(GJB1):c.467T>G (p.Leu156Arg) rs104894818
NM_000166.6(GJB1):c.478T>C (p.Tyr160His) rs1555937197
NM_000166.6(GJB1):c.484del (p.Met162fs) rs2147946319
NM_000166.6(GJB1):c.504C>A (p.Cys168Ter) rs757808220
NM_000166.6(GJB1):c.507del (p.Asp169fs)
NM_000166.6(GJB1):c.513C>G (p.Tyr171Ter) rs2092545247
NM_000166.6(GJB1):c.515C>T (p.Pro172Leu) rs1555937218
NM_000166.6(GJB1):c.519C>A (p.Cys173Ter) rs2092545291
NM_000166.6(GJB1):c.524dup (p.Asn175fs) rs1569215346
NM_000166.6(GJB1):c.52A>T (p.Thr18Ser)
NM_000166.6(GJB1):c.52_54del (p.Thr18del) rs2092542190
NM_000166.6(GJB1):c.532G>A (p.Asp178Asn) rs1555937223
NM_000166.6(GJB1):c.538T>C (p.Phe180Leu) rs1602349603
NM_000166.6(GJB1):c.540C>G (p.Phe180Leu) rs771022595
NM_000166.6(GJB1):c.541G>A (p.Val181Met) rs879253909
NM_000166.6(GJB1):c.547C>T (p.Arg183Cys) rs863224471
NM_000166.6(GJB1):c.548G>A (p.Arg183His) rs1555937233
NM_000166.6(GJB1):c.556G>A (p.Glu186Lys) rs116840821
NM_000166.6(GJB1):c.556dup (p.Glu186fs) rs1602349655
NM_000166.6(GJB1):c.562dup (p.Thr188fs)
NM_000166.6(GJB1):c.566T>G (p.Val189Gly) rs1064794244
NM_000166.6(GJB1):c.580A>G (p.Met194Val) rs587777878
NM_000166.6(GJB1):c.610C>G (p.Leu204Val) rs1064795540
NM_000166.6(GJB1):c.614A>G (p.Asn205Ser) rs104894822
NM_000166.6(GJB1):c.622G>A (p.Glu208Lys) rs1555937270
NM_000166.6(GJB1):c.622del (p.Glu208fs) rs2147946914
NM_000166.6(GJB1):c.630del (p.Tyr211fs) rs2092546021
NM_000166.6(GJB1):c.632A>G (p.Tyr211Cys) rs2092546039
NM_000166.6(GJB1):c.643C>T (p.Arg215Trp) rs879254099
NM_000166.6(GJB1):c.644G>C (p.Arg215Pro) rs864622215
NM_000166.6(GJB1):c.64C>T (p.Arg22Ter) rs1555937020
NM_000166.6(GJB1):c.655_670del (p.Arg219fs)
NM_000166.6(GJB1):c.658C>T (p.Arg220Ter) rs104894814
NM_000166.6(GJB1):c.65G>A (p.Arg22Gln) rs1060501002
NM_000166.6(GJB1):c.668_675del (p.Arg223fs)
NM_000166.6(GJB1):c.68T>C (p.Val23Ala) rs1602348650
NM_000166.6(GJB1):c.77C>G (p.Ser26Trp) rs587777876
NM_000166.6(GJB1):c.77C>T (p.Ser26Leu) rs587777876
NM_000166.6(GJB1):c.89T>C (p.Ile30Thr) rs104894817
NM_000166.6(GJB1):c.8G>A (p.Trp3Ter) rs1555936989
NM_000166.6(GJB1):c.99_103dup (p.Val35fs) rs1602348726
NM_000166.6(GJB1):c.9G>A (p.Trp3Ter) rs863224472
NM_001097642.3(GJB1):c.-16-513T>C rs1003232768
NM_001097642.3(GJB1):c.-16-524C>G rs1060501001
NM_002764.4(PRPS1):c.250C>T (p.Arg84Trp) rs2147681484
NM_002764.4(PRPS1):c.462G>A (p.Trp154Ter)
NM_002764.4(PRPS1):c.506C>T (p.Ser169Leu)
NM_002764.4(PRPS1):c.570del (p.Ala190_Leu191insTer)
NM_002764.4(PRPS1):c.586C>T (p.Arg196Trp) rs1556300610
NM_002764.4(PRPS1):c.621del (p.Val208fs) rs2147684810
NM_002764.4(PRPS1):c.640C>T (p.Arg214Trp) rs1556300621

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