ClinVar Miner

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

Included ClinVar conditions (59):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 208
Download table as spreadsheet
HGVS dbSNP
NM_000263.4(NAGLU):c.1788C>T (p.Gly596=) rs115166595
NM_000263.4(NAGLU):c.1860C>T (p.Ser620=) rs151013014
NM_000263.4(NAGLU):c.1983G>A (p.Lys661=) rs181021573
NM_001005360.2(DNM2):c.1077C>T (p.Gly359=) rs112238216
NM_001005360.2(DNM2):c.1218C>T (p.Asp406=) rs563985581
NM_001005360.2(DNM2):c.1286A>T (p.Asp429Val) rs186762327
NM_001005360.2(DNM2):c.162-7C>A rs148318860
NM_001005360.2(DNM2):c.1782-5C>T rs200103145
NM_001005360.2(DNM2):c.1902C>T (p.Asn634=) rs2229919
NM_001005360.2(DNM2):c.190G>A (p.Val64Ile) rs144250390
NM_001005360.2(DNM2):c.2059-5C>T rs377150057
NM_001005360.2(DNM2):c.2061G>A (p.Thr687=) rs149164657
NM_001005360.2(DNM2):c.2160C>T (p.Asp720=) rs117598326
NM_001005360.2(DNM2):c.235+6A>G rs113192269
NM_001005360.2(DNM2):c.236-8C>G rs143084059
NM_001005360.2(DNM2):c.2484G>A (p.Pro828=) rs114682382
NM_001005360.2(DNM2):c.2511G>A (p.Arg837=) rs200100669
NM_001005360.2(DNM2):c.2543+7C>G rs201979143
NM_001005360.2(DNM2):c.2567G>A (p.Ser856Asn) rs149825590
NM_001005360.2(DNM2):c.386-6T>A rs114623441
NM_001005360.2(DNM2):c.519T>C (p.Ala173=) rs77702567
NM_001005360.2(DNM2):c.643G>A (p.Asp215Asn) rs145478270
NM_001005360.2(DNM2):c.788C>T (p.Pro263Leu) rs3745674
NM_001303256.3(MORC2):c.1499-9T>C rs201213165
NM_001303256.3(MORC2):c.1737+4C>T rs5997814
NM_001303256.3(MORC2):c.2238A>G (p.Glu746=) rs41279975
NM_001303256.3(MORC2):c.234T>G (p.Ala78=) rs140792905
NM_001303256.3(MORC2):c.2469G>C (p.Arg823=) rs41279971
NM_001303256.3(MORC2):c.2583C>T (p.Ser861=) rs140142437
NM_001303256.3(MORC2):c.2649C>T (p.Val883=) rs189421529
NM_001303256.3(MORC2):c.2747+5_2747+6del rs67357185
NM_001303256.3(MORC2):c.2754T>C (p.Cys918=) rs767914603
NM_001303256.3(MORC2):c.489G>T (p.Glu163Asp) rs186458188
NM_001303256.3(MORC2):c.626A>G (p.Asn209Ser) rs76273991
NM_001303256.3(MORC2):c.966A>T (p.Gly322=) rs16989204
NM_001376.5(DYNC1H1):c.10065T>C (p.Ser3355=) rs80096622
NM_001376.5(DYNC1H1):c.10293C>T (p.Asn3431=) rs75075497
NM_001376.5(DYNC1H1):c.10887C>T (p.Phe3629=) rs141133453
NM_001376.5(DYNC1H1):c.11016G>A (p.Ser3672=) rs199679500
NM_001376.5(DYNC1H1):c.11400G>A (p.Gln3800=) rs182767009
NM_001376.5(DYNC1H1):c.11409G>A (p.Pro3803=) rs17512783
NM_001376.5(DYNC1H1):c.11685C>T (p.Thr3895=) rs17541519
NM_001376.5(DYNC1H1):c.11691-4G>T rs201810550
NM_001376.5(DYNC1H1):c.11765C>T (p.Pro3922Leu) rs141696238
NM_001376.5(DYNC1H1):c.11942C>G (p.Thr3981Arg) rs138428684
NM_001376.5(DYNC1H1):c.12159A>T (p.Gly4053=) rs115992196
NM_001376.5(DYNC1H1):c.12192G>T (p.Thr4064=) rs114906811
NM_001376.5(DYNC1H1):c.12258C>T (p.Thr4086=) rs141242095
NM_001376.5(DYNC1H1):c.12513+10T>G rs17512839
NM_001376.5(DYNC1H1):c.12514-9C>A rs74874468
NM_001376.5(DYNC1H1):c.12774C>T (p.Asn4258=) rs17512877
NM_001376.5(DYNC1H1):c.13062C>T (p.Asp4354=) rs181697853
NM_001376.5(DYNC1H1):c.13219-9C>T rs17541650
NM_001376.5(DYNC1H1):c.13372+4C>T rs17541657
NM_001376.5(DYNC1H1):c.13440C>T (p.Ser4480=) rs150286673
NM_001376.5(DYNC1H1):c.13707G>A (p.Thr4569=) rs138571942
NM_001376.5(DYNC1H1):c.13764G>A (p.Thr4588=) rs35079638
NM_001376.5(DYNC1H1):c.1587C>T (p.Asn529=) rs138418906
NM_001376.5(DYNC1H1):c.2283A>G (p.Pro761=) rs202008601
NM_001376.5(DYNC1H1):c.239A>G (p.Glu80Gly) rs751092252
NM_001376.5(DYNC1H1):c.2448C>T (p.Ile816=) rs145405293
NM_001376.5(DYNC1H1):c.2511A>G (p.Ala837=) rs17512054
NM_001376.5(DYNC1H1):c.256+4C>T rs546058194
NM_001376.5(DYNC1H1):c.2625G>A (p.Ser875=) rs17512082
NM_001376.5(DYNC1H1):c.2719-6C>T rs199763298
NM_001376.5(DYNC1H1):c.2721T>C (p.Ile907=) rs114021657
NM_001376.5(DYNC1H1):c.306C>T (p.Asn102=) rs17540624
NM_001376.5(DYNC1H1):c.345-10T>G rs202110844
NM_001376.5(DYNC1H1):c.3495T>C (p.Asp1165=) rs144359313
NM_001376.5(DYNC1H1):c.3909G>A (p.Ala1303=) rs34690489
NM_001376.5(DYNC1H1):c.3993C>T (p.Gly1331=) rs17540957
NM_001376.5(DYNC1H1):c.4143G>A (p.Ala1381=) rs373334821
NM_001376.5(DYNC1H1):c.4395+2C>T rs192594531
NM_001376.5(DYNC1H1):c.4509C>T (p.Ser1503=) rs116089522
NM_001376.5(DYNC1H1):c.4515G>A (p.Ser1505=) rs186932188
NM_001376.5(DYNC1H1):c.4533G>A (p.Pro1511=) rs150900416
NM_001376.5(DYNC1H1):c.46T>C (p.Leu16=) rs2273437
NM_001376.5(DYNC1H1):c.4854T>C (p.Tyr1618=) rs75094258
NM_001376.5(DYNC1H1):c.5001C>T (p.Asn1667=) rs117199211
NM_001376.5(DYNC1H1):c.5295A>G (p.Ala1765=) rs139919955
NM_001376.5(DYNC1H1):c.5298G>T (p.Leu1766=) rs149395439
NM_001376.5(DYNC1H1):c.5310C>T (p.Gly1770=) rs34013442
NM_001376.5(DYNC1H1):c.5328G>A (p.Ala1776=) rs143258359
NM_001376.5(DYNC1H1):c.5718A>C (p.Gly1906=) rs139070737
NM_001376.5(DYNC1H1):c.5985C>T (p.Ala1995=) rs140841480
NM_001376.5(DYNC1H1):c.6762C>T (p.Ile2254=) rs150603103
NM_001376.5(DYNC1H1):c.7137G>A (p.Leu2379=) rs17512439
NM_001376.5(DYNC1H1):c.7152C>T (p.Ser2384=) rs376471830
NM_001376.5(DYNC1H1):c.7203A>C (p.Lys2401Asn) rs150888094
NM_001376.5(DYNC1H1):c.7239G>T (p.Leu2413=) rs138407720
NM_001376.5(DYNC1H1):c.738A>G (p.Gln246=) rs117189734
NM_001376.5(DYNC1H1):c.7410G>A (p.Ala2470=) rs139109090
NM_001376.5(DYNC1H1):c.7449C>T (p.Ile2483=) rs17541158
NM_001376.5(DYNC1H1):c.7458G>T (p.Leu2486=) rs17541165
NM_001376.5(DYNC1H1):c.7463G>A (p.Arg2488His) rs149581331
NM_001376.5(DYNC1H1):c.7524A>G (p.Leu2508=) rs17541179
NM_001376.5(DYNC1H1):c.7632A>G (p.Glu2544=) rs17512460
NM_001376.5(DYNC1H1):c.7758C>T (p.Ala2586=) rs145487328
NM_001376.5(DYNC1H1):c.8304G>A (p.Pro2768=) rs77113510
NM_001376.5(DYNC1H1):c.9138G>T (p.Ser3046=) rs34338935
NM_001376.5(DYNC1H1):c.9264-8T>G rs368432468
NM_001376.5(DYNC1H1):c.9762+9T>G rs376545350
NM_001540.5(HSPB1):c.178C>T (p.Pro60Ser) rs61751217
NM_001540.5(HSPB1):c.36G>T (p.Arg12=) rs145369859
NM_001540.5(HSPB1):c.567C>T (p.Ala189=) rs528301561
NM_001540.5(HSPB1):c.573T>C (p.Leu191=) rs34771861
NM_001540.5(HSPB1):c.9G>A (p.Glu3=) rs77586767
NM_002180.2(IGHMBP2):c.1104C>T (p.Tyr368=) rs148157556
NM_002180.2(IGHMBP2):c.1193C>T (p.Ala398Val) rs35193202
NM_002180.2(IGHMBP2):c.1294G>A (p.Ala432Thr) rs116012780
NM_002180.2(IGHMBP2):c.132C>T (p.Gly44=) rs78807992
NM_002180.2(IGHMBP2):c.151C>G (p.Gln51Glu) rs117061430
NM_002180.2(IGHMBP2):c.1538-8C>G rs115320302
NM_002180.2(IGHMBP2):c.1551C>T (p.Leu517=) rs150549628
NM_002180.2(IGHMBP2):c.1581C>T (p.Asp527=) rs149736203
NM_002180.2(IGHMBP2):c.1770T>C (p.Phe590=) rs138997061
NM_002180.2(IGHMBP2):c.180C>T (p.Tyr60=) rs34617762
NM_002180.2(IGHMBP2):c.1821C>T (p.His607=) rs34658653
NM_002180.2(IGHMBP2):c.1827G>A (p.Ala609=) rs541245852
NM_002180.2(IGHMBP2):c.1939G>A (p.Val647Ile) rs77822399
NM_002180.2(IGHMBP2):c.2025C>T (p.Thr675=) rs138396245
NM_002180.2(IGHMBP2):c.2091G>A (p.Pro697=) rs113615425
NM_002180.2(IGHMBP2):c.223G>A (p.Ala75Thr) rs2228206
NM_002180.2(IGHMBP2):c.2322A>G (p.Glu774=) rs11228414
NM_002180.2(IGHMBP2):c.2439G>A (p.Ala813=) rs624147
NM_002180.2(IGHMBP2):c.2532G>A (p.Ala844=) rs2228207
NM_002180.2(IGHMBP2):c.256+9G>A rs118015540
NM_002180.2(IGHMBP2):c.276C>T (p.Tyr92=) rs146217031
NM_002180.2(IGHMBP2):c.2782G>A (p.Glu928Lys) rs2275996
NM_002180.2(IGHMBP2):c.2793C>T (p.Gly931=) rs139926138
NM_002180.2(IGHMBP2):c.2979G>A (p.Thr993=) rs201760315
NM_002180.2(IGHMBP2):c.344C>T (p.Thr115Met) rs181657861
NM_002180.2(IGHMBP2):c.366C>T (p.His122=) rs144401213
NM_002180.2(IGHMBP2):c.548-10T>G rs139207271
NM_002180.2(IGHMBP2):c.726C>G (p.Ala242=) rs76690064
NM_002180.2(IGHMBP2):c.741C>T (p.Ala247=) rs76707931
NM_004637.5(RAB7A):c.219C>T (p.Leu73=) rs4548
NM_004637.5(RAB7A):c.423C>G (p.Ala141=) rs61758751
NM_004637.5(RAB7A):c.87G>A (p.Val29=) rs145441548
NM_004990.4(MARS1):c.1294-5C>T rs149946100
NM_004990.4(MARS1):c.1500A>G (p.Lys500=) rs2290297
NM_004990.4(MARS1):c.1689C>T (p.Val563=) rs117833843
NM_004990.4(MARS1):c.1753+7A>G rs117914586
NM_004990.4(MARS1):c.1812G>A (p.Gly604=) rs117633211
NM_004990.4(MARS1):c.2180G>A (p.Arg727Gln) rs113808165
NM_004990.4(MARS1):c.2209C>A (p.Arg737=) rs139536122
NM_004990.4(MARS1):c.2532G>A (p.Ala844=) rs73344102
NM_004990.4(MARS1):c.477C>T (p.Pro159=) rs117101415
NM_004990.4(MARS1):c.801C>T (p.Leu267=) rs151260441
NM_004990.4(MARS1):c.873C>T (p.Ala291=) rs79531790
NM_004990.4(MARS1):c.901C>T (p.Arg301Cys) rs139661803
NM_006158.4(NEFL):c.1026C>G (p.Ala342=) rs35596950
NM_006158.4(NEFL):c.1212C>T (p.Ser404=) rs60547413
NM_006158.4(NEFL):c.1275C>T (p.Gly425=) rs114329068
NM_006158.4(NEFL):c.1329C>T (p.Tyr443=) rs140532785
NM_006158.4(NEFL):c.1407G>A (p.Glu469=) rs543609297
NM_006158.4(NEFL):c.1573_1575GAG[2] (p.Glu527del) rs3832558
NM_006158.4(NEFL):c.227T>C (p.Val76Ala) rs58907919
NM_006158.4(NEFL):c.582A>C (p.Glu194Asp) rs532240912
NM_006158.4(NEFL):c.667C>T (p.Leu223=) rs60156239
NM_006158.4(NEFL):c.855C>T (p.Thr285=) rs1065083
NM_014365.2(HSPB8):c.402T>C (p.Ile134=) rs56323028
NM_014365.2(HSPB8):c.535G>C (p.Glu179Gln) rs74740454
NM_014365.2(HSPB8):c.552C>T (p.Asn184=) rs112052602
NM_014365.2(HSPB8):c.582C>T (p.Thr194=) rs4628742
NM_015271.5(TRIM2):c.1017C>T (p.Ile339=) rs115515921
NM_015271.5(TRIM2):c.1077C>T (p.Gly359=) rs116558260
NM_015271.5(TRIM2):c.870C>T (p.Asn290=) rs35333794
NM_021625.4(TRPV4):c.1153-10C>T rs149541389
NM_021625.4(TRPV4):c.1308C>T (p.Ile436=) rs141244183
NM_021625.4(TRPV4):c.1341C>T (p.His447=) rs57316123
NM_021625.4(TRPV4):c.1539C>T (p.Gly513=) rs141295418
NM_021625.4(TRPV4):c.1581C>T (p.Thr527=) rs114653066
NM_021625.4(TRPV4):c.1656del (p.Tyr553fs) rs541606391
NM_021625.4(TRPV4):c.1684G>A (p.Val562Ile) rs56177950
NM_021625.4(TRPV4):c.1713C>G (p.Ile571Met) rs185933892
NM_021625.4(TRPV4):c.1744C>T (p.Leu582=) rs35078611
NM_021625.4(TRPV4):c.1824+4C>T rs147259744
NM_021625.4(TRPV4):c.2043C>T (p.Gly681=) rs375633647
NM_021625.4(TRPV4):c.2289C>T (p.Thr763=) rs202036871
NM_021625.4(TRPV4):c.2304G>C (p.Ser768=) rs138986228
NM_021625.4(TRPV4):c.2433G>C (p.Ser811=) rs34071623
NM_021625.4(TRPV4):c.2459-9T>G rs115373018
NM_021625.4(TRPV4):c.2498A>G (p.Asn833Ser) rs116035946
NM_021625.4(TRPV4):c.2518G>A (p.Glu840Lys) rs55728855
NM_021625.4(TRPV4):c.33G>T (p.Gly11=) rs56092423
NM_021625.4(TRPV4):c.387-4C>T rs12305439
NM_021625.4(TRPV4):c.396G>A (p.Pro132=) rs114101785
NM_021625.4(TRPV4):c.402C>A (p.Ser134Arg) rs201241092
NM_021625.4(TRPV4):c.549G>A (p.Glu183=) rs141908793
NM_021625.4(TRPV4):c.55C>T (p.Pro19Ser) rs3742030
NM_021625.4(TRPV4):c.57C>T (p.Pro19=) rs112408790
NM_021625.4(TRPV4):c.649G>T (p.Ala217Ser) rs187864727
NM_021625.4(TRPV4):c.810G>A (p.Gly270=) rs147558344
NM_021625.4(TRPV4):c.81T>C (p.Gly27=) rs34599967
NM_021625.4(TRPV4):c.854-4G>A rs371733585
NM_021625.4(TRPV4):c.854-5C>T rs116401333
NM_138361.5(LRSAM1):c.1044-9T>C rs59501881
NM_138361.5(LRSAM1):c.1368G>A (p.Ala456=) rs34426300
NM_138361.5(LRSAM1):c.1830+6C>T rs75171318
NM_138361.5(LRSAM1):c.1860C>T (p.His620=) rs147734401
NM_138361.5(LRSAM1):c.1974T>C (p.Ser658=) rs140336379
NM_138361.5(LRSAM1):c.1975G>A (p.Val659Met) rs140786088
NM_138361.5(LRSAM1):c.2121G>A (p.Pro707=) rs570732998
NM_138361.5(LRSAM1):c.2157C>T (p.Ile719=) rs34768188
NM_138361.5(LRSAM1):c.548C>T (p.Ser183Leu) rs75690855
NM_138361.5(LRSAM1):c.751-8C>G rs367823841
NM_138361.5(LRSAM1):c.965A>G (p.Gln322Arg) rs56380300

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