ClinVar Miner

List of variants reported as benign for Charcot-Marie-Tooth disease type 2 by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 224
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001605.3(AARS1):c.2715T>C (p.Val905=) rs4081753 0.85676
NM_002047.4(GARS1):c.124C>G (p.Pro42Ala) rs1049402 0.70073
NM_001605.3(AARS1):c.903C>T (p.His301=) rs2070203 0.48623
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_001365951.3(KIF1B):c.5301C>A (p.Thr1767=) rs11121552 0.23876
NM_170707.4(LMNA):c.1338T>C (p.Asp446=) rs505058 0.22862
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 0.17703
NM_001122955.4(BSCL2):c.486+11G>T rs72929434 0.16794
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 0.09146
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 0.07587
NM_170707.4(LMNA):c.810+13G>T rs11264444 0.05317
NM_002047.4(GARS1):c.1613+9T>C rs75855065 0.04917
NM_014874.4(MFN2):c.1569C>T (p.Ser523=) rs1042837 0.04459
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 0.03502
NM_001365951.3(KIF1B):c.3398A>G (p.Tyr1133Cys) rs2297881 0.03425
NM_001365951.3(KIF1B):c.1180+18C>T rs41274456 0.03019
NM_014874.4(MFN2):c.159C>T (p.Ser53=) rs61733200 0.02240
NM_030973.4(MED25):c.165G>A (p.Thr55=) rs77400039 0.02226
NM_001365951.3(KIF1B):c.608+8dup rs139613776 0.01962
NM_001365951.3(KIF1B):c.363+6A>C rs114084418 0.01751
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_002047.4(GARS1):c.11C>T (p.Pro4Leu) rs62636572 0.01237
NM_001365951.3(KIF1B):c.5432C>T (p.Pro1811Leu) rs61999305 0.01198
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 0.00995
NM_001605.3(AARS1):c.2900A>T (p.Lys967Met) rs35744709 0.00971
NM_170707.4(LMNA):c.1158-44C>T rs141879453 0.00929
NM_030973.4(MED25):c.1727C>G (p.Ala576Gly) rs193291405 0.00810
NM_170707.4(LMNA):c.51C>T (p.Ser17=) rs11549668 0.00797
NM_002047.4(GARS1):c.1163G>A (p.Arg388Gln) rs17159287 0.00784
NM_170707.4(LMNA):c.438C>T (p.Ala146=) rs80356805 0.00738
NM_014874.4(MFN2):c.970+19G>A rs75865135 0.00707
NM_030973.4(MED25):c.1482+19G>A rs4802632 0.00704
NM_001605.3(AARS1):c.2791G>A (p.Gly931Ser) rs149377346 0.00690
NM_014874.4(MFN2):c.957C>T (p.Gly319=) rs41278632 0.00690
NM_001365951.3(KIF1B):c.3864+6A>C rs114266141 0.00681
NM_001365951.3(KIF1B):c.4055+6A>G rs76519832 0.00655
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_001605.3(AARS1):c.1685C>T (p.Thr562Ile) rs148355156 0.00591
NM_001605.3(AARS1):c.64G>A (p.Glu22Lys) rs151091410 0.00568
NM_014874.4(MFN2):c.744C>T (p.Leu248=) rs61733205 0.00563
NM_030973.4(MED25):c.2056C>T (p.Leu686=) rs201969940 0.00545
NM_030973.4(MED25):c.1794C>T (p.Ala598=) rs185100172 0.00502
NM_001365951.3(KIF1B):c.4158G>A (p.Ser1386=) rs116302604 0.00439
NM_002047.4(GARS1):c.2190G>A (p.Glu730=) rs190132116 0.00437
NM_001365951.3(KIF1B):c.4753-20C>A rs192598799 0.00417
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 0.00324
NM_170707.4(LMNA):c.357C>T (p.Arg119=) rs41313880 0.00321
NM_170707.4(LMNA):c.811-13T>A rs80356809 0.00309
NM_001122955.4(BSCL2):c.1280T>C (p.Leu427Pro) rs145649423 0.00296
NM_001365951.3(KIF1B):c.5020G>A (p.Glu1674Lys) rs143669846 0.00293
NM_001365951.3(KIF1B):c.2330A>G (p.Asn777Ser) rs117525287 0.00273
NM_001365951.3(KIF1B):c.3635C>T (p.Pro1212Leu) rs141224290 0.00255
NM_030973.4(MED25):c.2088G>A (p.Leu696=) rs371157406 0.00252
NM_014874.4(MFN2):c.1403G>A (p.Arg468His) rs138382758 0.00237
NM_001605.3(AARS1):c.1672-4T>A rs187509039 0.00236
NM_014874.4(MFN2):c.892G>A (p.Gly298Arg) rs41278630 0.00218
NM_002047.4(GARS1):c.1031+14T>G rs189589556 0.00213
NM_170707.4(LMNA):c.1761G>A (p.Leu587=) rs80356813 0.00210
NM_002047.4(GARS1):c.1420C>A (p.Arg474=) rs113958280 0.00202
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.408A>T (p.Val136=) rs78814413 0.00186
NM_014874.4(MFN2):c.663T>C (p.Asp221=) rs116504054 0.00168
NM_030973.4(MED25):c.1675-7C>T rs79635160 0.00159
NM_030973.4(MED25):c.819+14C>T rs188257265 0.00158
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 0.00147
NM_014874.4(MFN2):c.150C>A (p.Ile50=) rs78841746 0.00130
NM_030973.4(MED25):c.396C>T (p.Arg132=) rs142353864 0.00125
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 0.00113
NM_001122955.4(BSCL2):c.845C>T (p.Ala282Val) rs185341934 0.00109
NM_014874.4(MFN2):c.165C>T (p.Thr55=) rs77458527 0.00106
NM_001365951.3(KIF1B):c.3645G>A (p.Pro1215=) rs147318592 0.00098
NM_001365951.3(KIF1B):c.5097-9C>T rs376873833 0.00098
NM_001605.3(AARS1):c.1332G>A (p.Glu444=) rs150442667 0.00096
NM_001365951.3(KIF1B):c.3885A>C (p.Thr1295=) rs139159572 0.00092
NM_001605.3(AARS1):c.2608-6C>A rs200965527 0.00088
NM_170707.4(LMNA):c.640-52C>T rs41314033 0.00088
NM_014874.4(MFN2):c.1641C>T (p.Leu547=) rs140924661 0.00087
NM_014874.4(MFN2):c.891C>T (p.Ala297=) rs11554508 0.00087
NM_030973.4(MED25):c.1374+9C>T rs574703435 0.00084
NM_001365951.3(KIF1B):c.2757C>T (p.Asp919=) rs78013543 0.00080
NM_001605.3(AARS1):c.1632C>T (p.Asp544=) rs149425243 0.00079
NM_001365951.3(KIF1B):c.186C>T (p.Pro62=) rs141998703 0.00077
NM_170707.4(LMNA):c.1489-16C>G rs201379016 0.00077
NM_001122955.4(BSCL2):c.487-14G>A rs189771133 0.00076
NM_001365951.3(KIF1B):c.2245T>C (p.Trp749Arg) rs551543997 0.00073
NM_002047.4(GARS1):c.1724T>C (p.Ile575Thr) rs181912750 0.00071
NM_001365951.3(KIF1B):c.2874C>T (p.Asp958=) rs150831576 0.00070
NM_001605.3(AARS1):c.1044G>C (p.Thr348=) rs181264712 0.00067
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_001365951.3(KIF1B):c.959-17A>G rs372958251 0.00060
NM_001365951.3(KIF1B):c.184-19C>T rs184562782 0.00059
NM_014874.4(MFN2):c.1495+9C>T rs375494746 0.00059
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_030973.4(MED25):c.1434G>A (p.Lys478=) rs181389801 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_030973.4(MED25):c.404+16A>G rs190980102 0.00036
NM_030973.4(MED25):c.1062C>T (p.Ser354=) rs140345077 0.00034
NM_001365951.3(KIF1B):c.429+13G>A rs199792028 0.00032
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_002047.4(GARS1):c.51G>A (p.Leu17=) rs202117737 0.00021
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_001605.3(AARS1):c.2592C>T (p.Ser864=) rs11537665 0.00017
NM_001122955.4(BSCL2):c.861C>T (p.Leu287=) rs370926100 0.00016
NM_014874.4(MFN2):c.1529G>A (p.Arg510Gln) rs376598131 0.00015
NM_001122955.4(BSCL2):c.133G>A (p.Gly45Ser) rs3763853 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.1108A>G (p.Met370Val) rs199976742 0.00013
NM_001605.3(AARS1):c.1938C>G (p.Thr646=) rs147822575 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_030973.4(MED25):c.1369C>T (p.Leu457=) rs566536708 0.00012
NM_001122955.4(BSCL2):c.939C>T (p.Ile313=) rs200300686 0.00011
NM_001605.3(AARS1):c.1509G>A (p.Val503=) rs138406510 0.00011
NM_001605.3(AARS1):c.2369A>T (p.Asp790Val) rs555357914 0.00011
NM_001605.3(AARS1):c.1410C>T (p.Ile470=) rs79785372 0.00010
NM_001605.3(AARS1):c.2287-13T>G rs553083906 0.00009
NM_002047.4(GARS1):c.1904C>T (p.Ser635Leu) rs201358272 0.00009
NM_014874.4(MFN2):c.175+14G>A rs202139103 0.00009
NM_030973.4(MED25):c.96C>T (p.Phe32=) rs138246339 0.00009
NM_001122955.4(BSCL2):c.765+16G>A rs183210574 0.00008
NM_002047.4(GARS1):c.1716G>A (p.Pro572=) rs370608239 0.00008
NM_001122955.4(BSCL2):c.487-20A>T rs115756273 0.00007
NM_001365951.3(KIF1B):c.654C>T (p.His218=) rs142209186 0.00007
NM_001365951.3(KIF1B):c.4668C>T (p.Ser1556=) rs765541693 0.00006
NM_030973.4(MED25):c.1143A>G (p.Pro381=) rs200571306 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_014874.4(MFN2):c.1968C>G (p.Ala656=) rs763381681 0.00005
NM_014874.4(MFN2):c.543G>A (p.Val181=) rs183226846 0.00005
NM_001365951.3(KIF1B):c.1777+7A>T rs367898139 0.00004
NM_001605.3(AARS1):c.2700G>A (p.Thr900=) rs140814462 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_001365951.3(KIF1B):c.4281C>T (p.Ser1427=) rs148438684 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_002047.4(GARS1):c.128C>T (p.Pro43Leu) rs570608946 0.00002
NM_014874.4(MFN2):c.801C>T (p.Pro267=) rs201550384 0.00002
NM_001605.3(AARS1):c.1656T>C (p.Asp552=) rs148659998 0.00001
NM_001605.3(AARS1):c.1993-4G>A rs528932248 0.00001
NM_001605.3(AARS1):c.904G>A (p.Ala302Thr) rs576221121 0.00001
NM_014874.4(MFN2):c.1806C>T (p.Ser602=) rs201258935 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_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.184-6_184-5del rs138324955
NM_001365951.3(KIF1B):c.3044-10del rs758417740
NM_001365951.3(KIF1B):c.3044-10dup rs758417740
NM_001365951.3(KIF1B):c.3864+20del rs2521792560
NM_001365951.3(KIF1B):c.4304+10del rs2521887016
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 rs751575387
NM_001605.3(AARS1):c.144+12dup rs751575387
NM_001605.3(AARS1):c.1737C>T (p.Ile579=) rs144323646
NM_001605.3(AARS1):c.2287-7dup rs1007690496
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.1495+10del rs754692803
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 rs1252726853
NM_030973.4(MED25):c.1317-3del rs2074062033
NM_030973.4(MED25):c.1482+21dup rs772160053
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 rs1446462307
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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.