ClinVar Miner

List of variants reported as benign for Charcot-Marie-Tooth disease

Included ClinVar conditions (134):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 174
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HGVS dbSNP
NM_000304.4(PMP22):c.*59A>C rs13422
NM_000399.5(EGR2):c.1352G>T (p.Gly451Val) rs138967272
NM_000530.8(MPZ):c.*624C>T rs60821801
NM_000530.8(MPZ):c.*761A>G rs16832786
NM_000530.8(MPZ):c.*901_*902GA[7] rs149030537
NM_000530.8(MPZ):c.600G>A (p.Gly200=) rs16832790
NM_000530.8(MPZ):c.637G>C (p.Gly213Arg) rs202176679
NM_000530.8(MPZ):c.684C>T (p.Ser228=) rs34307129
NM_001005360.2(DNM2):c.1218C>T (p.Asp406=) rs563985581
NM_001130089.1(KARS1):c.307-6del rs370077957
NM_001130089.1(KARS1):c.307-7_307-6del rs370077957
NM_001135242.2(NDRG1):c.64-6T>C rs2272653
NM_001136473.1(LITAF):c.234G>A (p.Thr78=) rs9282774
NM_001136473.1(LITAF):c.274A>G (p.Ile92Val) rs4280262
NM_001142386.3(PDK3):c.51G>C (p.Glu17Asp) rs371137355
NM_001243571.2(MTMR2):c.-404+13C>T rs139510268
NM_001243571.2(MTMR2):c.1288G>C (p.Glu430Gln) rs61735578
NM_001243571.2(MTMR2):c.354+11T>C rs182582445
NM_001243571.2(MTMR2):c.915C>T (p.Thr305=) rs566204
NM_001303256.3(MORC2):c.2238A>G (p.Glu746=) rs41279975
NM_001303256.3(MORC2):c.2469G>C (p.Arg823=) rs41279971
NM_001303256.3(MORC2):c.966A>T (p.Gly322=) rs16989204
NM_001370298.1(FGD4):c.123C>G (p.Ile41Met)
NM_001376.5(DYNC1H1):c.13372+4C>T rs17541657
NM_001376.5(DYNC1H1):c.2511A>G (p.Ala837=) rs17512054
NM_001376.5(DYNC1H1):c.46T>C (p.Leu16=) rs2273437
NM_001376.5(DYNC1H1):c.7449C>T (p.Ile2483=) rs17541158
NM_001376.5(DYNC1H1):c.7524A>G (p.Leu2508=) rs17541179
NM_001376.5(DYNC1H1):c.9762+9T>G rs376545350
NM_001605.2(AARS1):c.2715T>C (p.Val905=) rs4081753
NM_001605.2(AARS1):c.671+3A>G rs74024185
NM_001605.2(AARS1):c.824G>A (p.Gly275Asp) rs11537667
NM_001605.2(AARS1):c.903C>T (p.His301=) rs2070203
NM_002047.4(GARS1):c.124C>G (p.Pro42Ala) rs1049402
NM_002047.4(GARS1):c.2095-6C>T rs2240401
NM_002047.4(GARS1):c.222+5C>T rs2072236
NM_002047.4(GARS1):c.93G>C (p.Leu31=) rs2529438
NM_002047.4(GARS1):c.95T>C (p.Leu32Pro) rs863223328
NM_002180.2(IGHMBP2):c.2782G>A (p.Glu928Lys) rs2275996
NM_002972.4(SBF1):c.1947T>A (p.Pro649=)
NM_002972.4(SBF1):c.2127+4C>T rs151027707
NM_002972.4(SBF1):c.3339C>T (p.Ser1113=)
NM_002972.4(SBF1):c.3904+5C>G rs115032856
NM_002972.4(SBF1):c.4020C>T (p.Pro1340=)
NM_002972.4(SBF1):c.4813-18C>T
NM_002972.4(SBF1):c.5604T>C (p.Val1868=)
NM_002972.4(SBF1):c.5625C>T (p.Asp1875=)
NM_003001.3(SDHC):c.-38G>A rs112556972
NM_003001.3(SDHC):c.20+11_20+12dup rs35215598
NM_003172.4(SURF1):c.167C>G (p.Ala56Gly) rs116779216
NM_003172.4(SURF1):c.751+6T>C rs41296099
NM_003680.3(YARS1):c.1218G>C (p.Leu406=) rs699005
NM_003680.3(YARS1):c.60G>A (p.Glu20=) rs143712443
NM_004637.5(RAB7A):c.219C>T (p.Leu73=) rs4548
NM_004715.4(CTDP1):c.1461G>A (p.Pro487=) rs2126082
NM_004715.4(CTDP1):c.2817T>C (p.Asp939=) rs626169
NM_004715.4(CTDP1):c.978G>A (p.Thr326=) rs599554
NM_004715.5(CTDP1):c.2418-207_2418-165dup
NM_005340.7(HINT1):c.111+5_111+6insC
NM_005572.3(LMNA):c.1698C>T (p.His566=) rs4641
NM_006070.6(TFG):c.552G>A (p.Ala184=) rs35648279
NM_006070.6(TFG):c.722-8G>T rs41272979
NM_006096.3(NDRG1):c.*691G>A rs1049694
NM_006096.3(NDRG1):c.*956T>C rs1049697
NM_006096.3(NDRG1):c.199A>G (p.Met67Val) rs2233319
NM_006096.3(NDRG1):c.755+10T>C rs2233336
NM_014629.4(ARHGEF10):c.1075+13A>G rs4543586
NM_014629.4(ARHGEF10):c.1110G>C (p.Leu370Phe) rs9657362
NM_014629.4(ARHGEF10):c.1113C>T (p.Phe371=) rs34655804
NM_014629.4(ARHGEF10):c.1260+4C>T
NM_014629.4(ARHGEF10):c.141A>C (p.Pro47=) rs4875950
NM_014629.4(ARHGEF10):c.1991T>C (p.Met664Thr)
NM_014629.4(ARHGEF10):c.2098G>A (p.Val700Ile) rs2294039
NM_014629.4(ARHGEF10):c.2143+13T>G rs2294041
NM_014629.4(ARHGEF10):c.3398-16A>G rs7832438
NM_014629.4(ARHGEF10):c.387A>G (p.Val129=) rs749822
NM_014629.4(ARHGEF10):c.474C>T (p.Asp158=)
NM_014629.4(ARHGEF10):c.630G>A (p.Glu210=) rs7003969
NM_014845.5(FIG4):c.*120C>T rs1127775
NM_014845.5(FIG4):c.1090A>T (p.Met364Leu) rs2295837
NM_014845.5(FIG4):c.1948+3A>G rs10499054
NM_014845.5(FIG4):c.1961T>C (p.Val654Ala) rs9885672
NM_014845.5(FIG4):c.2559G>A (p.Ser853=) rs1127771
NM_014845.5(FIG4):c.67-7T>C rs56378532
NM_014874.3(MFN2):c.*58A>G rs1042842
NM_014874.3(MFN2):c.*896G>C rs3088064
NM_014874.3(MFN2):c.-212T>C rs2180183
NM_014874.3(MFN2):c.-367A>G rs2236054
NM_015271.5(TRIM2):c.870C>T (p.Asn290=) rs35333794
NM_016156.5(MTMR2):c.*1226_*1228del rs142663762
NM_016156.5(MTMR2):c.*1419G>A rs496305
NM_016156.5(MTMR2):c.*1568C>T rs596277
NM_016156.5(MTMR2):c.*1934T>C rs525404
NM_016156.5(MTMR2):c.*549G>A rs611020
NM_016156.5(MTMR2):c.1233G>A (p.Thr411=) rs113897932
NM_016156.5(MTMR2):c.1756C>A (p.Arg586=) rs61735577
NM_016156.5(MTMR2):c.186+5624TTTTA[6] rs112378876
NM_016156.5(MTMR2):c.8A>C (p.Lys3Thr) rs3824874
NM_018972.4(GDAP1):c.507T>G (p.Ser169=) rs11554166
NM_020631.5(PLEKHG5):c.2145_2147GGA[6] (p.Glu722_Glu723del) rs113541584
NM_020631.5(PLEKHG5):c.2827G>C (p.Gly943Arg) rs114619322
NM_020631.5(PLEKHG5):c.302+10_302+11delinsTT rs1553175406
NM_020631.5(PLEKHG5):c.771C>G (p.Gly257=) rs200400689
NM_020647.4(JPH1):c.638G>C (p.Arg213Pro) rs201314759
NM_020956.2(PRX):c.*1421G>A rs117336941
NM_020956.2(PRX):c.*1688G>C rs146789340
NM_020956.2(PRX):c.*2850T>C rs268671
NM_020956.2(PRX):c.*2860T>C rs268672
NM_020956.2(PRX):c.*2968A>G rs268673
NM_020956.2(PRX):c.*3453C>G rs3745202
NM_020956.2(PRX):c.*3599G>A rs268674
NM_020956.2(PRX):c.*4264_*4266GGA[6] rs139624657
NM_020956.2(PRX):c.*676G>A rs4803335
NM_020956.2(PRX):c.306C>T (p.Thr102=) rs744389
NM_021625.4(TRPV4):c.1656del (p.Tyr553fs) rs541606391
NM_021625.4(TRPV4):c.549G>C (p.Glu183Asp) rs141908793
NM_021625.4(TRPV4):c.649G>T (p.Ala217Ser) rs187864727
NM_021629.4(GNB4):c.48T>C (p.Asn16=) rs1078749
NM_021629.4(GNB4):c.917-4del rs764075662
NM_022489.4(INF2):c.2322C>T (p.Thr774=) rs59751492
NM_022489.4(INF2):c.3153C>T (p.Asp1051=) rs117457867
NM_022489.4(INF2):c.391+6C>T rs75115369
NM_022489.4(INF2):c.42G>A (p.Leu14=) rs62638758
NM_022489.4(INF2):c.651G>A (p.Leu217=) rs780516674
NM_024577.3(SH3TC2):c.*11390A>G rs3213854
NM_024577.3(SH3TC2):c.*15823T>C rs4562031
NM_024577.3(SH3TC2):c.*16020A>C rs4543254
NM_024577.3(SH3TC2):c.*16950T>C rs10040798
NM_024577.3(SH3TC2):c.*17703A>G rs4235739
NM_024577.3(SH3TC2):c.*18554G>T rs10040598
NM_024577.3(SH3TC2):c.*19564dup rs5872105
NM_024577.3(SH3TC2):c.*19919T>C rs2217638
NM_024577.3(SH3TC2):c.*3077C>T rs1045942
NM_024577.3(SH3TC2):c.*3136G>A rs1019927
NM_024577.3(SH3TC2):c.*5490G>A rs1432795
NM_024577.3(SH3TC2):c.1587T>G (p.Arg529=) rs1432794
NM_024577.3(SH3TC2):c.3686A>T (p.Asp1229Val) rs146920285
NM_030962.3(SBF2):c.*1144A>G rs3751001
NM_030962.3(SBF2):c.*1364C>T rs10118
NM_030962.3(SBF2):c.*1515G>A rs1045634
NM_030962.3(SBF2):c.*40A>C rs3751000
NM_030962.3(SBF2):c.*514C>T rs3829252
NM_030962.3(SBF2):c.1173A>G (p.Ala391=) rs79470805
NM_030962.3(SBF2):c.3292C>G (p.Leu1098Val) rs117957652
NM_030962.3(SBF2):c.3794-20C>T
NM_030962.3(SBF2):c.4571-6C>T rs2645029
NM_030962.3(SBF2):c.4933-15T>C rs75447733
NM_030962.3(SBF2):c.753-16T>A rs7128234
NM_030973.3(MED25):c.1483-7C>T rs2017698
NM_138361.5(LRSAM1):c.1830+6C>T rs75171318
NM_138361.5(LRSAM1):c.1912+5A>C rs2248822
NM_138361.5(LRSAM1):c.1974T>C (p.Ser658=) rs140336379
NM_138361.5(LRSAM1):c.249C>T (p.Ile83=) rs2243906
NM_138361.5(LRSAM1):c.548C>T (p.Ser183Leu) rs75690855
NM_138361.5(LRSAM1):c.904-9C>T rs1539568
NM_138361.5(LRSAM1):c.952A>G (p.Asn318Asp) rs1539567
NM_138773.4(SLC25A46):c.147C>T (p.Ile49=) rs145421520
NM_138773.4(SLC25A46):c.429C>T (p.Val143=) rs35220834
NM_139241.3(FGD4):c.*1133A>C rs10844268
NM_139241.3(FGD4):c.*1454A>G rs7964947
NM_139241.3(FGD4):c.*1492T>G rs7980205
NM_139241.3(FGD4):c.*1954A>G rs1239829
NM_139241.3(FGD4):c.*2928_*2931del rs549931906
NM_139241.3(FGD4):c.*3148del rs797002948
NM_139241.3(FGD4):c.*3770G>T rs11052123
NM_139241.3(FGD4):c.*4369dup rs35874340
NM_139241.3(FGD4):c.*4438A>G rs11052124
NM_139241.3(FGD4):c.*4991A>G rs1239830
NM_139241.3(FGD4):c.*5198G>A rs1133509
NM_139241.3(FGD4):c.1305G>A (p.Arg435=) rs10844253
NM_139241.3(FGD4):c.1518G>A (p.Ala506=) rs11052110
NM_139241.3(FGD4):c.435C>T (p.Asp145=) rs904582
NM_139241.3(FGD4):c.836+10G>T rs41276676
NM_170707.4(LMNA):c.1338T>C (p.Asp446=) rs505058

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