ClinVar Miner

List of variants reported as uncertain significance for Charcot-Marie-Tooth disease type X

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 209
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HGVS dbSNP gnomAD frequency
NM_002972.4(SBF1):c.3922C>T (p.Arg1308Trp) rs201399007 0.00091
NM_000166.6(GJB1):c.*277A>G rs759936874 0.00026
NM_004208.4(AIFM1):c.170C>G (p.Ser57Cys) rs201711375 0.00010
NM_000166.6(GJB1):c.*402G>A rs753223616 0.00009
NM_005391.5(PDK3):c.562G>A (p.Asp188Asn) rs1165981822 0.00009
NM_000166.6(GJB1):c.-128G>A rs1057515983 0.00007
NM_005391.5(PDK3):c.422C>T (p.Pro141Leu) rs898354567 0.00006
NM_005391.5(PDK3):c.820G>A (p.Val274Ile) rs773597771 0.00004
NM_000166.6(GJB1):c.*22C>T rs745547989 0.00003
NM_000166.6(GJB1):c.565G>A (p.Val189Ile) rs770116247 0.00003
NM_002764.4(PRPS1):c.611G>A (p.Arg204His) rs1169615098 0.00003
NM_000166.6(GJB1):c.508G>A (p.Val170Ile) rs748095370 0.00002
NM_005391.5(PDK3):c.1126G>A (p.Ala376Thr) rs781166988 0.00002
NM_005391.5(PDK3):c.1211C>T (p.Ala404Val) rs375862167 0.00002
NM_000166.6(GJB1):c.*443G>A rs533182215 0.00001
NM_000166.6(GJB1):c.670C>T (p.Arg224Cys) rs1426533412 0.00001
NM_000166.6(GJB1):c.790C>T (p.Arg264Cys) rs587777879 0.00001
NM_004208.4(AIFM1):c.1646C>T (p.Ala549Val) rs761953453 0.00001
NM_004208.4(AIFM1):c.1693A>G (p.Ile565Val) rs1375125488 0.00001
NM_005391.5(PDK3):c.1148C>T (p.Thr383Met) rs1442646183 0.00001
NM_005391.5(PDK3):c.1205A>G (p.Tyr402Cys) rs762702094 0.00001
NM_005391.5(PDK3):c.149G>A (p.Arg50Gln) rs757407648 0.00001
NM_005391.5(PDK3):c.160C>T (p.Pro54Ser) rs1569221445 0.00001
NM_005391.5(PDK3):c.203C>T (p.Pro68Leu) rs373610926 0.00001
NM_005391.5(PDK3):c.320+6T>C rs748960946 0.00001
NM_005391.5(PDK3):c.338T>C (p.Ile113Thr) rs1569223291 0.00001
NM_005391.5(PDK3):c.427A>G (p.Ile143Val) rs1057438680 0.00001
NM_005391.5(PDK3):c.474C>T (p.Arg158=) rs756879455 0.00001
NM_005391.5(PDK3):c.577G>A (p.Val193Met) rs764909872 0.00001
NM_005391.5(PDK3):c.595+3A>G rs1227104182 0.00001
NM_005391.5(PDK3):c.692C>G (p.Pro231Arg) rs1051776582 0.00001
NM_005391.5(PDK3):c.811A>G (p.Lys271Glu) rs1569227273 0.00001
NM_005391.5(PDK3):c.883C>A (p.Arg295=) rs868382375 0.00001
NC_000023.10:g.(?_24483553)_(24557301_?)dup
NC_000023.10:g.(?_24483563)_(24557291_?)dup
NC_000023.10:g.(?_24483573)_(24483698_?)del
NC_000023.10:g.(?_24483573)_(24557281_?)del
NC_000023.10:g.(?_24512849)_(24537137_?)dup
NC_000023.10:g.(?_24544295)_(24557281_?)dup
NC_000023.10:g.(?_24549754)_(24549907_?)del
NC_000023.11:g.(?_24465436)_(24465581_?)del
NC_000023.11:g.(?_24494722)_(24539184_?)del
NM_000166.6(GJB1):c.*50G>C rs2092547330
NM_000166.6(GJB1):c.-102G>A rs753207004
NM_000166.6(GJB1):c.110del (p.Val37fs) rs1602348754
NM_000166.6(GJB1):c.116del (p.Ala39fs) rs1602348779
NM_000166.6(GJB1):c.124_125del (p.Ser42fs) rs1602348794
NM_000166.6(GJB1):c.132G>A (p.Trp44Ter) rs879253935
NM_000166.6(GJB1):c.141_143dup (p.Lys48dup) rs1602348833
NM_000166.6(GJB1):c.155del (p.Ile52fs) rs1602348856
NM_000166.6(GJB1):c.179G>A (p.Cys60Tyr) rs1555937082
NM_000166.6(GJB1):c.187G>A (p.Val63Ile) rs116840818
NM_000166.6(GJB1):c.195T>G (p.Tyr65Ter) rs1602348907
NM_000166.6(GJB1):c.196_198del (p.Asp66del) rs1602348913
NM_000166.6(GJB1):c.208_209delinsTT (p.Pro70Phe) rs1602348930
NM_000166.6(GJB1):c.210dup (p.Ile71fs) rs1602348918
NM_000166.6(GJB1):c.217del (p.His73fs) rs1602348937
NM_000166.6(GJB1):c.225del (p.Leu76fs) rs116840820
NM_000166.6(GJB1):c.231G>A (p.Trp77Ter) rs879254096
NM_000166.6(GJB1):c.238C>T (p.Gln80Ter) rs1602348981
NM_000166.6(GJB1):c.248_257del (p.Leu83fs) rs1602349000
NM_000166.6(GJB1):c.256A>G (p.Thr86Ala) rs1602349014
NM_000166.6(GJB1):c.273_274del (p.Ala92fs) rs1602349061
NM_000166.6(GJB1):c.275_276del (p.Ala92fs) rs1602349065
NM_000166.6(GJB1):c.277_278del (p.Met93fs) rs1602349068
NM_000166.6(GJB1):c.287C>T (p.Ala96Val) rs11551260
NM_000166.6(GJB1):c.295C>T (p.Gln99Ter) rs1602349121
NM_000166.6(GJB1):c.304G>T (p.Glu102Ter) rs1602349143
NM_000166.6(GJB1):c.304_306del (p.Glu102del) rs1555937135
NM_000166.6(GJB1):c.313del (p.Met105fs) rs1602349163
NM_000166.6(GJB1):c.324dup (p.Glu109Ter) rs1555937143
NM_000166.6(GJB1):c.332_349del (p.His111_His116del) rs1602349197
NM_000166.6(GJB1):c.338_345delinsTGGC (p.Asp113fs) rs1602349208
NM_000166.6(GJB1):c.355G>T (p.Glu119Ter) rs1602349226
NM_000166.6(GJB1):c.358_360del (p.Val120del) rs1602349233
NM_000166.6(GJB1):c.371del (p.Lys124fs) rs1602349248
NM_000166.6(GJB1):c.383C>A (p.Ser128Ter) rs1602349272
NM_000166.6(GJB1):c.383C>G (p.Ser128Ter) rs1602349272
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.397del (p.Trp133fs) rs1602349299
NM_000166.6(GJB1):c.399G>A (p.Trp133Ter) rs1602349302
NM_000166.6(GJB1):c.410del (p.Ile137fs) rs1602349316
NM_000166.6(GJB1):c.413G>A (p.Ser138Asn) rs1602349322
NM_000166.6(GJB1):c.424del (p.Arg142fs) rs1602349328
NM_000166.6(GJB1):c.429GTT[1] (p.Leu144del) rs1602349339
NM_000166.6(GJB1):c.42_43insT (p.Arg15fs) rs1602348598
NM_000166.6(GJB1):c.436_437delinsAT (p.Glu146Met) rs1602349347
NM_000166.6(GJB1):c.439del (p.Ala147fs) rs1602349352
NM_000166.6(GJB1):c.43del (p.Arg15fs) rs1602348594
NM_000166.6(GJB1):c.44_45delinsTT (p.Arg15Leu) rs1602348605
NM_000166.6(GJB1):c.454del (p.Val152fs) rs1602349383
NM_000166.6(GJB1):c.459_460del (p.Phe153fs) rs1602349393
NM_000166.6(GJB1):c.461A>G (p.Tyr154Cys) rs1555937189
NM_000166.6(GJB1):c.463C>A (p.Leu155Met) rs1057515984
NM_000166.6(GJB1):c.474del (p.Gly159fs) rs1602349441
NM_000166.6(GJB1):c.484dup (p.Met162fs) rs1602349460
NM_000166.6(GJB1):c.498_502del (p.Lys167fs) rs1602349473
NM_000166.6(GJB1):c.524dup (p.Asn175fs) rs1569215346
NM_000166.6(GJB1):c.533_536dup (p.Cys179Ter) rs1602349585
NM_000166.6(GJB1):c.553_555del (p.Thr185del) rs1602349648
NM_000166.6(GJB1):c.556G>T (p.Glu186Ter) rs116840821
NM_000166.6(GJB1):c.571dup (p.Thr191fs) rs1602349676
NM_000166.6(GJB1):c.573_574insTCA (p.Thr191_Val192insSer) rs1602349684
NM_000166.6(GJB1):c.576del (p.Phe193fs) rs1602349692
NM_000166.6(GJB1):c.596G>A (p.Gly199Asp) rs2147946811
NM_000166.6(GJB1):c.59T>A (p.Ile20Asn) rs1569215025
NM_000166.6(GJB1):c.606del (p.Ile203fs) rs1602349746
NM_000166.6(GJB1):c.617dup (p.Ala207fs) rs1602349763
NM_000166.6(GJB1):c.619G>C (p.Ala207Pro) rs2147946898
NM_000166.6(GJB1):c.61G>A (p.Gly21Ser) rs1602348633
NM_000166.6(GJB1):c.622del (p.Glu208fs) rs2147946914
NM_000166.6(GJB1):c.625GTG[1] (p.Val210del) rs1602349772
NM_000166.6(GJB1):c.629_632del (p.Val210fs) rs1602349779
NM_000166.6(GJB1):c.62del (p.Gly21fs) rs1602348638
NM_000166.6(GJB1):c.633C>A (p.Tyr211Ter) rs1569215443
NM_000166.6(GJB1):c.634del (p.Leu212fs) rs1602349791
NM_000166.6(GJB1):c.641_642delinsAT (p.Ile214Asn) rs1602349807
NM_000166.6(GJB1):c.646G>A (p.Ala216Thr) rs2147947019
NM_000166.6(GJB1):c.64C>T (p.Arg22Ter) rs1555937020
NM_000166.6(GJB1):c.651T>A (p.Cys217Ter) rs1602349821
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.705C>A (p.Phe235Leu) rs760150310
NM_000166.6(GJB1):c.73C>T (p.Leu25Phe) rs1602348662
NM_000166.6(GJB1):c.761dup (p.Gln255fs) rs1602349920
NM_000166.6(GJB1):c.772del (p.Ser258fs) rs1602349940
NM_000166.6(GJB1):c.775del (p.Ser258_Leu259insTer) rs1602349948
NM_000166.6(GJB1):c.77C>A (p.Ser26Ter) rs587777876
NM_000166.6(GJB1):c.77del (p.Ser26fs) rs1602348679
NM_000166.6(GJB1):c.785_786del (p.Ile262fs) rs1602349962
NM_000166.6(GJB1):c.793_821del (p.Arg264_Arg265insTer) rs1602349984
NM_000166.6(GJB1):c.7T>C (p.Trp3Arg) rs1602348537
NM_000166.6(GJB1):c.800del (p.Pro267fs) rs1602350003
NM_000166.6(GJB1):c.822del (p.Glu275fs) rs1602350029
NM_000166.6(GJB1):c.842C>A (p.Ser281Ter) rs866253945
NM_000166.6(GJB1):c.844dup (p.Ala282fs) rs1602350062
NM_000166.6(GJB1):c.849C>A (p.Cys283Ter) rs748676943
NM_000166.6(GJB1):c.84del (p.Phe29fs) rs1602348695
NM_000166.6(GJB1):c.851G>C (p.Ter284Ser)
NM_000166.6(GJB1):c.852A>G (p.Ter284Trp)
NM_000166.6(GJB1):c.89T>C (p.Ile30Thr) rs104894817
NM_000166.6(GJB1):c.8G>A (p.Trp3Ter) rs1555936989
NM_001097642.3(GJB1):c.-16-475C>G rs2092540944
NM_001142386.3(PDK3):c.1218A>G (p.Gln406=)
NM_001142386.3(PDK3):c.1226T>C (p.Ile409Thr)
NM_001939.3(DRP2):c.2159G>A (p.Arg720Gln)
NM_002764.4(PRPS1):c.334G>A (p.Val112Ile) rs2147682370
NM_004208.4(AIFM1):c.1006G>A (p.Glu336Lys) rs1603223158
NM_004208.4(AIFM1):c.1019T>C (p.Met340Thr) rs1057518895
NM_004208.4(AIFM1):c.1478A>T (p.Glu493Val) rs281864468
NM_004208.4(AIFM1):c.322CAGAAA[1] (p.108QK[1]) rs2030881306
NM_004208.4(AIFM1):c.623C>T (p.Pro208Leu)
NM_004208.4(AIFM1):c.727G>T (p.Val243Leu) rs1603225138
NM_004208.4(AIFM1):c.923G>A (p.Gly308Glu) rs1603224226
NM_005391.5(PDK3):c.1028A>C (p.Lys343Thr) rs2148203320
NM_005391.5(PDK3):c.106+14_106+15dup rs1940055207
NM_005391.5(PDK3):c.1077+2T>G
NM_005391.5(PDK3):c.1079C>T (p.Ala360Val) rs1569228203
NM_005391.5(PDK3):c.1087dup (p.Ser363fs) rs1569228214
NM_005391.5(PDK3):c.1097T>G (p.Phe366Cys) rs1922715042
NM_005391.5(PDK3):c.1106T>C (p.Leu369Pro) rs1922715462
NM_005391.5(PDK3):c.1159G>A (p.Asp387Asn)
NM_005391.5(PDK3):c.1187C>T (p.Pro396Leu) rs761831322
NM_005391.5(PDK3):c.1193A>G (p.Asp398Gly)
NM_005391.5(PDK3):c.1202A>G (p.Lys401Arg) rs371788046
NM_005391.5(PDK3):c.1213A>G (p.Lys405Glu)
NM_005391.5(PDK3):c.1217del (p.Gln406fs)
NM_005391.5(PDK3):c.1218dup (p.Ter407ValextTer?) rs2148204361
NM_005391.5(PDK3):c.132_134del (p.Ser45del)
NM_005391.5(PDK3):c.137A>G (p.Tyr46Cys) rs2148188298
NM_005391.5(PDK3):c.13C>T (p.Arg5Trp) rs1940054079
NM_005391.5(PDK3):c.149_158dup (p.Pro54fs)
NM_005391.5(PDK3):c.18G>C (p.Trp6Cys) rs2148176546
NM_005391.5(PDK3):c.217_226del (p.Asn73fs)
NM_005391.5(PDK3):c.220C>T (p.Arg74Cys)
NM_005391.5(PDK3):c.221G>A (p.Arg74His)
NM_005391.5(PDK3):c.223C>A (p.Pro75Thr) rs2148188335
NM_005391.5(PDK3):c.23T>C (p.Leu8Pro)
NM_005391.5(PDK3):c.248+3A>G
NM_005391.5(PDK3):c.293G>A (p.Ser98Asn)
NM_005391.5(PDK3):c.302A>G (p.Asp101Gly)
NM_005391.5(PDK3):c.308A>G (p.Gln103Arg) rs2148190126
NM_005391.5(PDK3):c.316G>A (p.Asp106Asn)
NM_005391.5(PDK3):c.321-3C>T
NM_005391.5(PDK3):c.335T>C (p.Leu112Pro) rs2148191720
NM_005391.5(PDK3):c.340A>G (p.Lys114Glu)
NM_005391.5(PDK3):c.355C>T (p.His119Tyr)
NM_005391.5(PDK3):c.382C>A (p.Gln128Lys)
NM_005391.5(PDK3):c.382C>G (p.Gln128Glu)
NM_005391.5(PDK3):c.392T>C (p.Ile131Thr)
NM_005391.5(PDK3):c.434C>G (p.Thr145Ser)
NM_005391.5(PDK3):c.472C>G (p.Arg158Gly)
NM_005391.5(PDK3):c.485G>A (p.Arg162His) rs867468579
NM_005391.5(PDK3):c.49G>C (p.Glu17Gln) rs2148176569
NM_005391.5(PDK3):c.505+3A>T rs1921912997
NM_005391.5(PDK3):c.521del (p.Gly174fs)
NM_005391.5(PDK3):c.577G>C (p.Val193Leu) rs764909872
NM_005391.5(PDK3):c.596A>G (p.Asp199Gly)
NM_005391.5(PDK3):c.597del (p.Asp199fs) rs1569225940
NM_005391.5(PDK3):c.608C>G (p.Thr203Arg) rs1555949588
NM_005391.5(PDK3):c.674-5T>G rs2148201118
NM_005391.5(PDK3):c.707A>G (p.Tyr236Cys) rs2148201163
NM_005391.5(PDK3):c.836A>G (p.Glu279Gly) rs2148201759
NM_005391.5(PDK3):c.86T>A (p.Ile29Asn)
NM_005391.5(PDK3):c.895C>T (p.Arg299Cys)
NM_005391.5(PDK3):c.896G>A (p.Arg299His)
NM_005391.5(PDK3):c.940G>T (p.Glu314Ter) rs1922567942
NM_005391.5(PDK3):c.974G>T (p.Gly325Val)

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