ClinVar Miner

List of variants reported as benign for Charcot-Marie-Tooth disease type 2

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 249
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HGVS dbSNP gnomAD frequency
NM_001605.3(AARS1):c.2715T>C (p.Val905=) rs4081753 0.85676
NM_014874.4(MFN2):c.*58A>G rs1042842 0.71104
NM_002047.4(GARS1):c.124C>G (p.Pro42Ala) rs1049402 0.70073
NM_014874.4(MFN2):c.*896G>C rs3088064 0.55119
NC_000001.11:g.10381606T>C rs3748581 0.53815
NM_014874.3(MFN2):c.-212T>C rs2180183 0.53102
NM_014874.3(MFN2):c.-367A>G rs2236054 0.52635
NM_001605.3(AARS1):c.903C>T (p.His301=) rs2070203 0.49332
NM_002047.4(GARS1):c.2095-6C>T rs2240401 0.48477
NM_001365951.3(KIF1B):c.1777+10C>T rs3753037 0.26503
NM_001365951.3(KIF1B):c.720+17C>T rs1339458 0.25792
NM_001365951.3(KIF1B):c.285C>G (p.Ala95=) rs12402052 0.24010
NM_170707.4(LMNA):c.1338T>C (p.Asp446=) rs505058 0.23806
NM_001365951.3(KIF1B):c.5301C>A (p.Thr1767=) rs11121552 0.23676
NM_170707.4(LMNA):c.1698C>T (p.His566=) rs4641 0.20715
NM_170707.4(LMNA):c.861T>C (p.Ala287=) rs538089 0.18331
NM_170707.4(LMNA):c.1157+16G>A rs534807 0.18318
NM_001122955.4(BSCL2):c.486+11G>T rs72929434 0.16805
NM_001122955.4(BSCL2):c.1137A>G (p.Glu379=) rs6856 0.16571
NM_002047.4(GARS1):c.222+5C>T rs2072236 0.09556
NM_002047.4(GARS1):c.93G>C (p.Leu31=) rs2529438 0.09548
NM_001365951.3(KIF1B):c.4299A>G (p.Pro1433=) rs12125492 0.08850
NM_002047.4(GARS1):c.2145A>G (p.Thr715=) rs4593 0.08113
NM_001605.3(AARS1):c.671+3A>G rs74024185 0.07668
NM_001605.3(AARS1):c.824G>A (p.Gly275Asp) rs11537667 0.07667
NM_014874.4(MFN2):c.2204+15T>C rs77262016 0.07571
NM_170707.4(LMNA):c.810+13G>T rs11264444 0.05317
NM_014874.4(MFN2):c.*1488C>T rs11554507 0.05161
NM_002047.4(GARS1):c.1613+9T>C rs75855065 0.04917
NM_014874.4(MFN2):c.*912C>T rs14305 0.04860
NM_014874.4(MFN2):c.1569C>T (p.Ser523=) rs1042837 0.04459
NM_014874.4(MFN2):c.*1100A>G rs41278638 0.04352
NM_002047.4(GARS1):c.1833T>C (p.Val611=) rs14270 0.04182
NM_002047.4(GARS1):c.1062T>C (p.Phe354=) rs11553502 0.04180
NM_001122955.4(BSCL2):c.765+15C>T rs79586077 0.03596
NM_001365951.3(KIF1B):c.4946+9C>T rs72867431 0.03521
NM_001365951.3(KIF1B):c.1365G>A (p.Thr455=) rs17034660 0.03490
NM_001365951.3(KIF1B):c.3398A>G (p.Tyr1133Cys) rs2297881 0.03425
NM_001365951.3(KIF1B):c.1180+18C>T rs41274456 0.03074
NM_014874.4(MFN2):c.*1161C>A rs115706485 0.02302
NM_014874.4(MFN2):c.159C>T (p.Ser53=) rs61733200 0.02240
NM_014874.4(MFN2):c.*1576C>T rs78523898 0.02185
NM_014874.4(MFN2):c.*730C>T rs112550280 0.02163
NM_001365951.3(KIF1B):c.608+8dup rs139613776 0.01962
NM_030973.4(MED25):c.165G>A (p.Thr55=) rs77400039 0.01828
NM_001365951.3(KIF1B):c.363+6A>C rs114084418 0.01751
NM_014874.4(MFN2):c.*231G>A rs41278636 0.01666
NM_014874.4(MFN2):c.*777T>C rs112854268 0.01628
NM_030973.4(MED25):c.1483-7C>T rs2017698 0.01612
NM_002047.4(GARS1):c.747T>C (p.Tyr249=) rs7808770 0.01578
NM_002047.4(GARS1):c.1761G>A (p.Thr587=) rs3886641 0.01523
NM_030973.4(MED25):c.2031G>A (p.Ala677=) rs57854058 0.01517
NM_014874.4(MFN2):c.2205-13C>A rs76020240 0.01362
NM_001365951.3(KIF1B):c.5432C>T (p.Pro1811Leu) rs61999305 0.01293
NM_002047.4(GARS1):c.11C>T (p.Pro4Leu) rs62636572 0.01280
NM_014874.4(MFN2):c.1039-19G>A rs74052923 0.01120
NM_001365951.3(KIF1B):c.4798G>A (p.Val1600Met) rs77172218 0.01096
NM_001365951.3(KIF1B):c.4086T>C (p.Asp1362=) rs116089798 0.01068
NM_001605.3(AARS1):c.2900A>T (p.Lys967Met) rs35744709 0.00971
NM_170707.4(LMNA):c.1158-44C>T rs141879453 0.00929
NM_014874.4(MFN2):c.*304A>G rs80118679 0.00841
NM_030973.4(MED25):c.1727C>G (p.Ala576Gly) rs193291405 0.00836
NM_002047.4(GARS1):c.1163G>A (p.Arg388Gln) rs17159287 0.00833
NM_170707.4(LMNA):c.51C>T (p.Ser17=) rs11549668 0.00797
NM_170707.4(LMNA):c.438C>T (p.Ala146=) rs80356805 0.00782
NM_001605.3(AARS1):c.2791G>A (p.Gly931Ser) rs149377346 0.00718
NM_001365951.3(KIF1B):c.3864+6A>C rs114266141 0.00716
NM_001365951.3(KIF1B):c.4055+6A>G rs76519832 0.00707
NM_014874.4(MFN2):c.970+19G>A rs75865135 0.00707
NM_030973.4(MED25):c.1482+19G>A rs4802632 0.00704
NM_014874.4(MFN2):c.957C>T (p.Gly319=) rs41278632 0.00690
NM_001605.3(AARS1):c.1404C>T (p.Tyr468=) rs117598688 0.00646
NM_001122955.4(BSCL2):c.1234+20G>A rs113229350 0.00638
NM_170707.4(LMNA):c.612G>A (p.Leu204=) rs12117552 0.00637
NM_014874.4(MFN2):c.2113G>A (p.Val705Ile) rs142271930 0.00621
NM_030973.4(MED25):c.2056C>T (p.Leu686=) rs201969940 0.00598
NM_001605.3(AARS1):c.1685C>T (p.Thr562Ile) rs148355156 0.00591
NM_014874.4(MFN2):c.744C>T (p.Leu248=) rs61733205 0.00591
NM_001605.3(AARS1):c.64G>A (p.Glu22Lys) rs151091410 0.00568
NM_001365951.3(KIF1B):c.4158G>A (p.Ser1386=) rs116302604 0.00481
NM_030973.4(MED25):c.1794C>T (p.Ala598=) rs185100172 0.00456
NM_002047.4(GARS1):c.2190G>A (p.Glu730=) rs190132116 0.00437
NM_001365951.3(KIF1B):c.4753-20C>A rs192598799 0.00436
NM_014874.4(MFN2):c.*1034C>T rs56333319 0.00427
NM_001365951.3(KIF1B):c.5250A>G (p.Ala1750=) rs75413741 0.00415
NM_030973.4(MED25):c.93C>T (p.Tyr31=) rs61742955 0.00394
NM_001605.3(AARS1):c.962+18T>C rs149761815 0.00391
NM_002047.4(GARS1):c.803C>T (p.Thr268Ile) rs2230310 0.00357
NM_014874.4(MFN2):c.975C>T (p.Gly325=) rs141475476 0.00357
NM_014874.4(MFN2):c.*1830C>T rs74609163 0.00341
NM_170707.4(LMNA):c.357C>T (p.Arg119=) rs41313880 0.00321
NM_001365951.3(KIF1B):c.5020G>A (p.Glu1674Lys) rs143669846 0.00317
NM_170707.4(LMNA):c.811-13T>A rs80356809 0.00309
NM_001122955.4(BSCL2):c.1280T>C (p.Leu427Pro) rs145649423 0.00301
NM_001365951.3(KIF1B):c.3635C>T (p.Pro1212Leu) rs141224290 0.00255
NM_014874.4(MFN2):c.1403G>A (p.Arg468His) rs138382758 0.00255
NM_030973.4(MED25):c.2088G>A (p.Leu696=) rs371157406 0.00252
NM_001605.3(AARS1):c.1672-4T>A rs187509039 0.00236
NM_001365951.3(KIF1B):c.2330A>G (p.Asn777Ser) rs117525287 0.00228
NM_014874.4(MFN2):c.892G>A (p.Gly298Arg) rs41278630 0.00221
NM_002047.4(GARS1):c.1031+14T>G rs189589556 0.00213
NM_002047.4(GARS1):c.1420C>A (p.Arg474=) rs113958280 0.00210
NM_170707.4(LMNA):c.1761G>A (p.Leu587=) rs80356813 0.00210
NM_001365951.3(KIF1B):c.2970C>A (p.Ile990=) rs78611156 0.00200
NM_001605.3(AARS1):c.2521-3C>T rs200586605 0.00190
NM_030973.4(MED25):c.688+17G>A rs373952366 0.00188
NM_014874.4(MFN2):c.663T>C (p.Asp221=) rs116504054 0.00184
NM_030973.4(MED25):c.819+14C>T rs188257265 0.00166
NM_170707.4(LMNA):c.1851C>T (p.Ala617=) rs143189394 0.00158
NM_014874.4(MFN2):c.1179G>A (p.Met393Ile) rs12069578 0.00153
NM_001365951.3(KIF1B):c.4596C>T (p.Pro1532=) rs147066476 0.00150
NM_030973.4(MED25):c.396C>T (p.Arg132=) rs142353864 0.00125
NM_030973.4(MED25):c.1675-7C>T rs79635160 0.00123
NM_170707.4(LMNA):c.1566C>T (p.Cys522=) rs149339264 0.00123
NM_002047.4(GARS1):c.1962C>T (p.Ile654=) rs201927627 0.00120
NM_001365951.3(KIF1B):c.3259+9A>G rs149566646 0.00118
NM_001365951.3(KIF1B):c.5097-9C>T rs376873833 0.00108
NM_014874.4(MFN2):c.165C>T (p.Thr55=) rs77458527 0.00106
NM_014874.4(MFN2):c.408A>T (p.Val136=) rs78814413 0.00106
NM_001122955.4(BSCL2):c.845C>T (p.Ala282Val) rs185341934 0.00096
NM_001605.3(AARS1):c.1332G>A (p.Glu444=) rs150442667 0.00096
NM_001365951.3(KIF1B):c.3645G>A (p.Pro1215=) rs147318592 0.00092
NM_001365951.3(KIF1B):c.3885A>C (p.Thr1295=) rs139159572 0.00092
NM_170707.4(LMNA):c.640-52C>T rs41314033 0.00091
NM_030973.4(MED25):c.1374+9C>T rs574703435 0.00090
NM_014874.4(MFN2):c.150C>A (p.Ile50=) rs78841746 0.00089
NM_014874.4(MFN2):c.1641C>T (p.Leu547=) rs140924661 0.00089
NM_001605.3(AARS1):c.2608-6C>A rs200965527 0.00088
NM_014874.4(MFN2):c.891C>T (p.Ala297=) rs11554508 0.00087
NM_014874.4(MFN2):c.1452G>A (p.Thr484=) rs150043585 0.00083
NM_001605.3(AARS1):c.1632C>T (p.Asp544=) rs149425243 0.00081
NM_001122955.4(BSCL2):c.487-14G>A rs189771133 0.00080
NM_001365951.3(KIF1B):c.2757C>T (p.Asp919=) rs78013543 0.00080
NM_001365951.3(KIF1B):c.186C>T (p.Pro62=) rs141998703 0.00077
NM_170707.4(LMNA):c.1489-16C>G rs201379016 0.00076
NM_014874.4(MFN2):c.*1546G>A rs3737960 0.00074
NM_001605.3(AARS1):c.2369A>T (p.Asp790Val) rs555357914 0.00072
NM_002047.4(GARS1):c.1724T>C (p.Ile575Thr) rs181912750 0.00071
NM_001365951.3(KIF1B):c.959-17A>G rs372958251 0.00067
NM_001605.3(AARS1):c.1044G>C (p.Thr348=) rs181264712 0.00067
NM_001365951.3(KIF1B):c.184-19C>T rs184562782 0.00065
NM_001605.3(AARS1):c.2580G>A (p.Leu860=) rs145581652 0.00065
NM_002047.4(GARS1):c.699C>T (p.Val233=) rs187937286 0.00063
NM_014874.4(MFN2):c.-4-13G>T rs373679523 0.00060
NM_014874.4(MFN2):c.1495+9C>T rs375494746 0.00059
NM_001365951.3(KIF1B):c.2874C>T (p.Asp958=) rs150831576 0.00052
NM_170707.4(LMNA):c.1911C>T (p.Phe637=) rs117939448 0.00048
NM_001365951.3(KIF1B):c.1435-15C>T rs371838261 0.00044
NM_014874.4(MFN2):c.72G>T (p.Val24=) rs138454088 0.00044
NM_001605.3(AARS1):c.1428G>C (p.Arg476=) rs80257731 0.00041
NM_014874.4(MFN2):c.1827C>T (p.Ser609=) rs138724074 0.00039
NM_001605.3(AARS1):c.741G>A (p.Leu247=) rs148075561 0.00038
NM_014874.4(MFN2):c.1728C>T (p.Pro576=) rs147802404 0.00036
NM_001365951.3(KIF1B):c.429+13G>A rs199792028 0.00034
NM_030973.4(MED25):c.2208C>T (p.Ser736=) rs376796439 0.00030
NM_170707.4(LMNA):c.1584G>A (p.Thr528=) rs80356812 0.00029
NM_030973.4(MED25):c.1434G>A (p.Lys478=) rs181389801 0.00028
NM_030973.4(MED25):c.1062C>T (p.Ser354=) rs140345077 0.00026
NM_030973.4(MED25):c.404+16A>G rs190980102 0.00026
NM_002047.4(GARS1):c.51G>A (p.Leu17=) rs202117737 0.00023
NM_170707.4(LMNA):c.1017G>A (p.Ala339=) rs17847242 0.00021
NM_001605.3(AARS1):c.561C>T (p.Cys187=) rs78523270 0.00019
NM_001365951.3(KIF1B):c.4824+15T>G rs201508062 0.00018
NM_001365951.3(KIF1B):c.4967G>A (p.Arg1656Gln) rs373439616 0.00017
NM_001122955.4(BSCL2):c.861C>T (p.Leu287=) rs370926100 0.00016
NM_001122955.4(BSCL2):c.133G>A (p.Gly45Ser) rs3763853 0.00014
NM_001605.3(AARS1):c.1108A>G (p.Met370Val) rs199976742 0.00014
NM_001605.3(AARS1):c.1938C>G (p.Thr646=) rs147822575 0.00014
NM_014874.4(MFN2):c.474+4A>G rs141974160 0.00014
NM_001122955.4(BSCL2):c.448G>A (p.Val150Ile) rs149412531 0.00013
NM_001605.3(AARS1):c.744A>G (p.Val248=) rs752618189 0.00013
NM_001365951.3(KIF1B):c.1180+19G>A rs200480069 0.00012
NM_001605.3(AARS1):c.2592C>T (p.Ser864=) rs11537665 0.00012
NM_001605.3(AARS1):c.1509G>A (p.Val503=) rs138406510 0.00011
NM_002047.4(GARS1):c.1904C>T (p.Ser635Leu) rs201358272 0.00011
NM_014874.4(MFN2):c.1987C>T (p.Arg663Cys) rs369762154 0.00011
NM_001122955.4(BSCL2):c.939C>T (p.Ile313=) rs200300686 0.00010
NM_001605.3(AARS1):c.1410C>T (p.Ile470=) rs79785372 0.00010
NM_002047.4(GARS1):c.1716G>A (p.Pro572=) rs370608239 0.00008
NM_014874.4(MFN2):c.175+14G>A rs202139103 0.00007
NM_001365951.3(KIF1B):c.4668C>T (p.Ser1556=) rs765541693 0.00006
NM_170707.4(LMNA):c.1149G>A (p.Glu383=) rs267607603 0.00006
NM_001365951.3(KIF1B):c.1341A>G (p.Ser447=) rs763679404 0.00005
NM_001365951.3(KIF1B):c.2245T>C (p.Trp749Arg) rs551543997 0.00004
NM_001605.3(AARS1):c.2700G>A (p.Thr900=) rs140814462 0.00004
NM_014874.4(MFN2):c.1529G>A (p.Arg510Gln) rs376598131 0.00004
NM_014874.4(MFN2):c.176-7C>T rs374055101 0.00004
NM_014874.4(MFN2):c.2070-11C>G rs759614417 0.00004
NM_014874.4(MFN2):c.543G>A (p.Val181=) rs183226846 0.00004
NM_001365951.3(KIF1B):c.4281C>T (p.Ser1427=) rs148438684 0.00003
NM_014874.4(MFN2):c.*1562G>A rs551566332 0.00003
NM_014874.4(MFN2):c.1873-16A>T rs190961216 0.00003
NM_014874.4(MFN2):c.970+13A>G rs771746625 0.00003
NM_030973.4(MED25):c.96C>T (p.Phe32=) rs138246339 0.00003
NM_001365951.3(KIF1B):c.654C>T (p.His218=) rs142209186 0.00002
NM_002047.4(GARS1):c.128C>T (p.Pro43Leu) rs570608946 0.00002
NM_001605.3(AARS1):c.1656T>C (p.Asp552=) rs148659998 0.00001
NM_001605.3(AARS1):c.2287-13T>G rs553083906 0.00001
NM_001605.3(AARS1):c.904G>A (p.Ala302Thr) rs576221121 0.00001
NM_014874.4(MFN2):c.*226C>T rs184254413 0.00001
NM_014874.4(MFN2):c.1806C>T (p.Ser602=) rs201258935 0.00001
NM_014874.4(MFN2):c.801C>T (p.Pro267=) rs201550384 0.00001
NM_030973.4(MED25):c.1143A>G (p.Pro381=) rs200571306 0.00001
NM_170707.4(LMNA):c.1488+8G>A rs762836610 0.00001
NM_170707.4(LMNA):c.948G>A (p.Lys316=) rs778421025 0.00001
NM_001122955.4(BSCL2):c.487-20A>T rs115756273
NM_001122955.4(BSCL2):c.765+16G>A rs183210574
NM_001365951.3(KIF1B):c.*249CA[15] rs111663673
NM_001365951.3(KIF1B):c.1037+12del
NM_001365951.3(KIF1B):c.1038-15dup rs765965212
NM_001365951.3(KIF1B):c.1515-6del
NM_001365951.3(KIF1B):c.168C>T (p.Tyr56=) rs530566864
NM_001365951.3(KIF1B):c.1777+7A>T rs367898139
NM_001365951.3(KIF1B):c.184-6_184-5del rs138324955
NM_001365951.3(KIF1B):c.3044-10del rs758417740
NM_001365951.3(KIF1B):c.3044-10dup
NM_001365951.3(KIF1B):c.3864+20del
NM_001365951.3(KIF1B):c.4304+10del
NM_001365951.3(KIF1B):c.5408+11TTG[5] rs371033478
NM_001365951.3(KIF1B):c.5409-16del rs2102365749
NM_001605.3(AARS1):c.1222+16del rs748889882
NM_001605.3(AARS1):c.144+12del
NM_001605.3(AARS1):c.144+12dup
NM_001605.3(AARS1):c.1737C>T (p.Ile579=) rs144323646
NM_001605.3(AARS1):c.1993-4G>A rs528932248
NM_001605.3(AARS1):c.2287-7dup
NM_001605.3(AARS1):c.2608-16C>T rs371163247
NM_001605.3(AARS1):c.2722-20dup
NM_002047.4(GARS1):c.1614-4G>A rs376324026
NM_002047.4(GARS1):c.47TGC[4] (p.Leu20del) rs150213018
NM_014874.4(MFN2):c.*1258G>A rs116156978
NM_014874.4(MFN2):c.-80C>T rs7538183
NM_014874.4(MFN2):c.1495+10del rs754692803
NM_014874.4(MFN2):c.1968C>G (p.Ala656=) rs763381681
NM_014874.4(MFN2):c.2069+18A>G rs551549595
NM_014874.4(MFN2):c.564C>T (p.Cys188=) rs536007087
NM_030973.4(MED25):c.1101+24_1101+42dup rs564179307
NM_030973.4(MED25):c.1231-5dup rs778157941
NM_030973.4(MED25):c.1316+23del
NM_030973.4(MED25):c.1317-3del rs2074062033
NM_030973.4(MED25):c.1369C>T (p.Leu457=) rs566536708
NM_030973.4(MED25):c.1482+21dup
NM_030973.4(MED25):c.1674+19C>T rs752522
NM_030973.4(MED25):c.2146+19G>T rs568964675
NM_030973.4(MED25):c.2146+8del
NM_030973.4(MED25):c.234C>G (p.Pro78=) rs74863643
NM_030973.4(MED25):c.525+20_525+34del rs766617168
NM_030973.4(MED25):c.597C>A (p.Ala199=) rs149788020
NM_170707.4(LMNA):c.1968+18dup rs554157057

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