ClinVar Miner

List of variants reported as benign for Charcot-Marie-Tooth disease type 2 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (95):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 287
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HGVS dbSNP gnomAD frequency
NM_018972.4(GDAP1):c.*797A>G rs7007283 0.99395
NM_001605.3(AARS1):c.2715T>C (p.Val905=) rs4081753 0.85676
NM_001005373.4(LRSAM1):c.952A>G (p.Asn318Asp) rs1539567 0.75123
NM_001005373.4(LRSAM1):c.1912+5A>C rs2248822 0.74956
NM_014874.4(MFN2):c.*58A>G rs1042842 0.71104
NM_002047.4(GARS1):c.124C>G (p.Pro42Ala) rs1049402 0.70073
NM_001005373.4(LRSAM1):c.249C>T (p.Ile83=) rs2243906 0.61095
NM_021625.5(TRPV4):c.670A>C (p.Arg224=) rs3825394 0.60669
NM_014874.4(MFN2):c.*896G>C rs3088064 0.55119
NM_015074.3(KIF1B):c.*5019T>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_001005373.4(LRSAM1):c.904-9C>T rs1539568 0.43695
NM_014365.3(HSPB8):c.*644A>G rs11038 0.34575
NM_018972.4(GDAP1):c.*1855A>G rs6472842 0.30274
NM_001005361.3(DNM2):c.2139T>C (p.Ala713=) rs2229920 0.30148
NM_001376.5(DYNC1H1):c.13080T>C (p.Thr4360=) rs13749 0.29982
NM_001376.5(DYNC1H1):c.13372+9G>A rs1004903 0.29622
NM_018972.4(GDAP1):c.507T>G (p.Ser169=) rs11554166 0.27295
NM_018972.4(GDAP1):c.*2214A>G rs10504580 0.26909
NM_170707.4(LMNA):c.1338T>C (p.Asp446=) rs505058 0.23806
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_018972.4(GDAP1):c.*1878G>T rs16938896 0.18293
NM_018972.4(GDAP1):c.*357A>G rs1135715 0.18199
NM_018972.4(GDAP1):c.*830C>G rs4737414 0.18198
NM_001005361.3(DNM2):c.*268A>T rs12461992 0.17591
NM_014365.3(HSPB8):c.*684G>A rs1133026 0.16667
NM_001376.5(DYNC1H1):c.624G>A (p.Pro208=) rs3818188 0.16558
NM_001376.5(DYNC1H1):c.3600A>G (p.Gln1200=) rs12893215 0.15549
NM_001376.5(DYNC1H1):c.8928A>G (p.Leu2976=) rs8010870 0.14754
NM_021625.5(TRPV4):c.2034C>T (p.Ile678=) rs3742037 0.14446
NM_001376.5(DYNC1H1):c.12087C>A (p.His4029Gln) rs10129889 0.12866
NM_021625.5(TRPV4):c.789T>C (p.Asp263=) rs3742034 0.12664
NM_002047.4(GARS1):c.222+5C>T rs2072236 0.09556
NM_002047.4(GARS1):c.93G>C (p.Leu31=) rs2529438 0.09548
NM_021625.5(TRPV4):c.795C>T (p.His265=) rs1344554 0.08478
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_014365.3(HSPB8):c.582C>T (p.Thr194=) rs4628742 0.07444
NM_004637.6(RAB7A):c.*863C>G rs59753334 0.06155
NM_018972.4(GDAP1):c.*1173G>T rs72665430 0.06104
NM_001605.3(AARS1):c.*74A>T rs11537663 0.05921
NM_001376.5(DYNC1H1):c.10950C>T (p.Asn3650=) rs17541505 0.05906
NM_004637.6(RAB7A):c.*189A>G rs11549750 0.05501
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_001376.5(DYNC1H1):c.*190A>G rs13901 0.04745
NM_014874.4(MFN2):c.1569C>T (p.Ser523=) rs1042837 0.04459
NM_014874.4(MFN2):c.*1100A>G rs41278638 0.04352
NM_004637.6(RAB7A):c.219C>T (p.Leu73=) rs4548 0.04279
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_001376.5(DYNC1H1):c.13372+4C>T rs17541657 0.04171
NM_014365.3(HSPB8):c.*440C>G rs13378054 0.03707
NM_001376.5(DYNC1H1):c.*232C>T rs17512996 0.03685
NM_004637.6(RAB7A):c.*997T>C rs3755593 0.03614
NM_021625.5(TRPV4):c.55C>T (p.Pro19Ser) rs3742030 0.03470
NM_001005373.4(LRSAM1):c.548C>T (p.Ser183Leu) rs75690855 0.03450
NM_001005361.3(DNM2):c.*385C>T rs78160240 0.03446
NM_001376.5(DYNC1H1):c.7449C>T (p.Ile2483=) rs17541158 0.03068
NM_014365.3(HSPB8):c.402T>C (p.Ile134=) rs56323028 0.03035
NM_001376.5(DYNC1H1):c.7524A>G (p.Leu2508=) rs17541179 0.03009
NM_002047.2(GARS1):c.-205C>T rs17159262 0.03007
NM_002047.2(GARS1):c.-217A>G rs2970504 0.02929
NM_021625.5(TRPV4):c.2459-9T>G rs115373018 0.02700
NM_014365.3(HSPB8):c.-193T>C rs11549401 0.02683
NM_018972.4(GDAP1):c.*1647C>T rs115466662 0.02649
NM_001540.5(HSPB1):c.*11C>T rs1058872 0.02598
NM_021625.5(TRPV4):c.81T>C (p.Gly27=) rs34599967 0.02557
NM_001005361.3(DNM2):c.1077C>T (p.Gly359=) rs112238216 0.02416
NM_021625.5(TRPV4):c.854-5C>T rs116401333 0.02337
NM_014874.4(MFN2):c.*1161C>A rs115706485 0.02302
NM_014874.4(MFN2):c.*1576C>T rs78523898 0.02185
NM_014874.4(MFN2):c.*730C>T rs112550280 0.02163
NM_001005373.4(LRSAM1):c.1830+6C>T rs75171318 0.01846
NM_004637.6(RAB7A):c.*206G>A rs16851333 0.01808
NM_002047.2(GARS1):c.-317G>A rs116125961 0.01714
NM_014874.4(MFN2):c.*231G>A rs41278636 0.01666
NM_001376.5(DYNC1H1):c.3993C>T (p.Gly1331=) rs17540957 0.01643
NM_021625.5(TRPV4):c.387-4C>T rs12305439 0.01630
NM_014874.4(MFN2):c.*777T>C rs112854268 0.01628
NM_002047.4(GARS1):c.747T>C (p.Tyr249=) rs7808770 0.01578
NM_001005373.4(LRSAM1):c.-316C>T rs116498902 0.01548
NM_002047.4(GARS1):c.1761G>A (p.Thr587=) rs3886641 0.01523
NM_014365.3(HSPB8):c.552C>T (p.Asn184=) rs112052602 0.01515
NM_004637.6(RAB7A):c.-97C>G rs141622970 0.01485
NM_001376.5(DYNC1H1):c.3909G>A (p.Ala1303=) rs34690489 0.01481
NM_001376.5(DYNC1H1):c.6221+13G>T rs17541088 0.01447
NM_014874.4(MFN2):c.2205-13C>A rs76020240 0.01362
NM_004637.6(RAB7A):c.-29G>T rs112000804 0.01334
NM_001605.3(AARS1):c.*251A>C rs116553521 0.01298
NM_002047.4(GARS1):c.11C>T (p.Pro4Leu) rs62636572 0.01280
NM_001005361.3(DNM2):c.2484G>A (p.Pro828=) rs114682382 0.01064
NM_001605.3(AARS1):c.2900A>T (p.Lys967Met) rs35744709 0.00971
NM_001376.5(DYNC1H1):c.12159A>T (p.Gly4053=) rs115992196 0.00962
NM_001376.5(DYNC1H1):c.7137G>A (p.Leu2379=) rs17512439 0.00956
NM_001005361.3(DNM2):c.235+12C>A rs147026993 0.00953
NM_021625.5(TRPV4):c.33G>T (p.Gly11=) rs56092423 0.00939
NM_001005361.3(DNM2):c.1782-11C>T rs78580529 0.00921
NM_014874.4(MFN2):c.*304A>G rs80118679 0.00841
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_001376.5(DYNC1H1):c.2511A>G (p.Ala837=) rs17512054 0.00771
NM_021625.5(TRPV4):c.1684G>A (p.Val562Ile) rs56177950 0.00760
NM_001005361.3(DNM2):c.235+6A>G rs113192269 0.00748
NM_001605.3(AARS1):c.2791G>A (p.Gly931Ser) rs149377346 0.00718
NM_021625.5(TRPV4):c.2518G>A (p.Glu840Lys) rs55728855 0.00718
NM_018972.4(GDAP1):c.*561C>G rs80136809 0.00699
NM_014365.3(HSPB8):c.*581G>A rs56754798 0.00690
NM_014874.4(MFN2):c.957C>T (p.Gly319=) rs41278632 0.00690
NM_002047.4(GARS1):c.*73A>G rs113598818 0.00687
NM_021625.5(TRPV4):c.1341C>T (p.His447=) rs57316123 0.00683
NM_021625.5(TRPV4):c.2433G>C (p.Ser811=) rs34071623 0.00673
NM_001605.3(AARS1):c.1404C>T (p.Tyr468=) rs117598688 0.00646
NM_002047.2(GARS1):c.-225G>A rs148593022 0.00641
NM_170707.4(LMNA):c.612G>A (p.Leu204=) rs12117552 0.00637
NM_001005361.3(DNM2):c.1196+773C>T rs150975494 0.00628
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_014874.4(MFN2):c.744C>T (p.Leu248=) rs61733205 0.00591
NM_021625.5(TRPV4):c.810G>A (p.Gly270=) rs147558344 0.00582
NM_001005373.4(LRSAM1):c.1368G>A (p.Ala456=) rs34426300 0.00573
NM_001540.4(HSPB1):c.-46C>T rs35907174 0.00569
NM_001605.3(AARS1):c.64G>A (p.Glu22Lys) rs151091410 0.00568
NM_021625.5(TRPV4):c.*423G>A rs151286044 0.00565
NM_001005361.3(DNM2):c.*47G>A rs367938944 0.00550
NM_021625.5(TRPV4):c.1153-10C>T rs149541389 0.00547
NM_021625.5(TRPV4):c.1744C>T (p.Leu582=) rs35078611 0.00542
NM_014365.3(HSPB8):c.535G>C (p.Glu179Gln) rs74740454 0.00531
NM_001005373.4(LRSAM1):c.1044-9T>C rs59501881 0.00523
NM_018972.4(GDAP1):c.*2244T>C rs113763295 0.00513
NM_002047.4(GARS1):c.*67C>G rs142498676 0.00506
NM_018972.4(GDAP1):c.*920C>G rs6982840 0.00506
NM_001376.5(DYNC1H1):c.11765C>T (p.Pro3922Leu) rs141696238 0.00495
NM_001540.5(HSPB1):c.36G>T (p.Arg12=) rs145369859 0.00486
NM_018972.4(GDAP1):c.*61C>T rs73345399 0.00483
NM_001376.5(DYNC1H1):c.11685C>T (p.Thr3895=) rs17541519 0.00451
NM_001376.5(DYNC1H1):c.46T>C (p.Leu16=) rs2273437 0.00449
NM_001376.5(DYNC1H1):c.2625G>A (p.Ser875=) rs17512082 0.00448
NM_001376.5(DYNC1H1):c.7632A>G (p.Glu2544=) rs17512460 0.00447
NM_001376.5(DYNC1H1):c.-53G>A rs2273436 0.00446
NM_001376.5(DYNC1H1):c.-5A>G rs17511858 0.00446
NM_002047.2(GARS1):c.-177T>C rs78980639 0.00437
NM_014874.4(MFN2):c.*1034C>T rs56333319 0.00427
NM_004637.6(RAB7A):c.*163T>G rs182521602 0.00395
NM_001376.5(DYNC1H1):c.4854T>C (p.Tyr1618=) rs75094258 0.00381
NM_001005361.3(DNM2):c.2543+7C>G rs201979143 0.00364
NM_002047.2(GARS1):c.-280G>A rs73294431 0.00364
NM_001005361.3(DNM2):c.236-8C>G rs143084059 0.00361
NM_001005361.3(DNM2):c.519T>C (p.Ala173=) rs77702567 0.00359
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_001005373.4(LRSAM1):c.1975G>A (p.Val659Met) rs140786088 0.00342
NM_004637.6(RAB7A):c.495G>A (p.Ala165=) rs146566121 0.00341
NM_014874.4(MFN2):c.*1830C>T rs74609163 0.00341
NM_001376.5(DYNC1H1):c.13219-9C>T rs17541650 0.00332
NM_001005373.4(LRSAM1):c.965A>G (p.Gln322Arg) rs56380300 0.00328
NM_001005361.3(DNM2):c.*671T>C rs190696940 0.00325
NM_001376.5(DYNC1H1):c.8886+13G>A rs17541317 0.00322
NM_170707.4(LMNA):c.357C>T (p.Arg119=) rs41313880 0.00321
NM_170707.4(LMNA):c.811-13T>A rs80356809 0.00309
NM_001540.4(HSPB1):c.-56C>T rs35759978 0.00306
NM_021625.5(TRPV4):c.*378G>C rs538255561 0.00305
NM_001376.5(DYNC1H1):c.1587C>T (p.Asn529=) rs138418906 0.00302
NM_001376.5(DYNC1H1):c.5298G>T (p.Leu1766=) rs149395439 0.00286
NM_005572.3(LMNA):c.-223C>T rs188625872 0.00284
NM_001005373.4(LRSAM1):c.*57G>A rs549468112 0.00273
NM_021625.5(TRPV4):c.712+10C>T rs115657305 0.00260
NM_001005361.3(DNM2):c.190G>A (p.Val64Ile) rs144250390 0.00243
NM_001605.3(AARS1):c.1672-4T>A rs187509039 0.00236
NM_021625.5(TRPV4):c.1824+4C>T rs147259744 0.00225
NM_002047.4(GARS1):c.1031+14T>G rs189589556 0.00213
NM_002047.4(GARS1):c.1420C>A (p.Arg474=) rs113958280 0.00210
NM_004637.6(RAB7A):c.423C>G (p.Ala141=) rs61758751 0.00210
NM_021625.5(TRPV4):c.*365C>T rs184413363 0.00210
NM_021625.5(TRPV4):c.1713C>G (p.Ile571Met) rs185933892 0.00191
NM_001605.3(AARS1):c.2521-3C>T rs200586605 0.00190
NM_021625.5(TRPV4):c.2498A>G (p.Asn833Ser) rs116035946 0.00184
NM_001376.5(DYNC1H1):c.7239G>T (p.Leu2413=) rs138407720 0.00175
NM_021625.5(TRPV4):c.649G>T (p.Ala217Ser) rs187864727 0.00172
NM_021625.5(TRPV4):c.*230G>A rs181542514 0.00171
NM_001005361.3(DNM2):c.2160C>T (p.Asp720=) rs117598326 0.00163
NM_001605.3(AARS1):c.*141A>G rs576707006 0.00161
NM_001540.5(HSPB1):c.178C>T (p.Pro60Ser) rs61751217 0.00153
NM_001005361.3(DNM2):c.1902C>T (p.Asn634=) rs2229919 0.00149
NM_001540.5(HSPB1):c.-19C>T rs199602956 0.00149
NM_001376.5(DYNC1H1):c.5001C>T (p.Asn1667=) rs117199211 0.00137
NM_001605.3(AARS1):c.700C>T (p.Pro234Ser) rs141840552 0.00137
NM_001005373.4(LRSAM1):c.268G>A (p.Asp90Asn) rs117692127 0.00133
NM_001376.5(DYNC1H1):c.2721T>C (p.Ile907=) rs114021657 0.00125
NM_001376.5(DYNC1H1):c.7458G>T (p.Leu2486=) rs17541165 0.00125
NM_001005361.3(DNM2):c.238C>T (p.His80Tyr) rs148790687 0.00123
NM_014874.4(MFN2):c.165C>T (p.Thr55=) rs77458527 0.00106
NM_021625.5(TRPV4):c.*486T>C rs79157363 0.00103
NM_001005361.3(DNM2):c.2061G>A (p.Thr687=) rs149164657 0.00102
NM_002047.2(GARS1):c.-69T>A rs527307703 0.00098
NM_001605.3(AARS1):c.1332G>A (p.Glu444=) rs150442667 0.00096
NM_014874.4(MFN2):c.150C>A (p.Ile50=) rs78841746 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_001005361.3(DNM2):c.*607G>A rs117954916 0.00085
NM_014874.4(MFN2):c.1452G>A (p.Thr484=) rs150043585 0.00083
NM_021625.5(TRPV4):c.*190C>T rs141636597 0.00077
NM_014874.4(MFN2):c.*1546G>A rs3737960 0.00074
NM_001605.3(AARS1):c.2185C>T (p.Arg729Trp) rs138081804 0.00072
NM_014365.3(HSPB8):c.499G>A (p.Glu167Lys) rs148514935 0.00072
NM_001605.3(AARS1):c.1044G>C (p.Thr348=) rs181264712 0.00067
NM_014874.4(MFN2):c.-4-13G>T rs373679523 0.00060
NM_014874.4(MFN2):c.1495+9C>T rs375494746 0.00059
NM_021625.5(TRPV4):c.549G>A (p.Glu183=) rs141908793 0.00058
NM_018972.4(GDAP1):c.*2463A>G rs9643686 0.00052
NM_001005361.3(DNM2):c.788C>T (p.Pro263Leu) rs3745674 0.00043
NM_001605.3(AARS1):c.1428G>C (p.Arg476=) rs80257731 0.00041
NM_004637.6(RAB7A):c.87G>A (p.Val29=) rs145441548 0.00039
NM_001605.3(AARS1):c.741G>A (p.Leu247=) rs148075561 0.00038
NM_001376.5(DYNC1H1):c.738A>G (p.Gln246=) rs117189734 0.00037
NM_001376.5(DYNC1H1):c.4395+2C>T rs192594531 0.00035
NM_001376.5(DYNC1H1):c.12514-9C>A rs74874468 0.00032
NM_001005361.3(DNM2):c.*10G>A rs200188660 0.00029
NM_018972.4(GDAP1):c.*1429A>G rs78545774 0.00029
NM_170707.4(LMNA):c.1584G>A (p.Thr528=) rs80356812 0.00029
NM_001005361.3(DNM2):c.2511G>A (p.Arg837=) rs200100669 0.00027
NM_001005361.3(DNM2):c.*321A>G rs149937994 0.00026
NM_001005361.3(DNM2):c.958G>A (p.Asp320Asn) rs150613209 0.00026
NM_004637.6(RAB7A):c.*625T>C rs545004919 0.00025
NM_001005361.3(DNM2):c.2179C>T (p.His727Tyr) rs142963320 0.00024
NM_004637.5(RAB7A):c.-215C>T rs560785742 0.00022
NM_001005361.3(DNM2):c.2567G>A (p.Ser856Asn) rs149825590 0.00021
NM_014365.2(HSPB8):c.-457A>G rs564088535 0.00021
NM_001376.5(DYNC1H1):c.7463G>A (p.Arg2488His) rs149581331 0.00019
NM_001605.3(AARS1):c.561C>T (p.Cys187=) rs78523270 0.00019
NM_001005361.3(DNM2):c.882G>A (p.Pro294=) rs144790170 0.00018
NM_001005361.3(DNM2):c.*453C>T rs200104482 0.00016
NM_001376.5(DYNC1H1):c.4515G>A (p.Ser1505=) rs186932188 0.00016
NM_001005361.3(DNM2):c.528C>T (p.Pro176=) rs147579870 0.00015
NM_001005361.3(DNM2):c.1423-12G>A rs376753915 0.00014
NM_014874.4(MFN2):c.474+4A>G rs141974160 0.00014
NM_001005361.3(DNM2):c.1384A>G (p.Thr462Ala) rs201575500 0.00011
NM_014874.4(MFN2):c.1987C>T (p.Arg663Cys) rs369762154 0.00011
NM_001005361.3(DNM2):c.*14C>T rs369529119 0.00010
NM_021625.5(TRPV4):c.1398C>T (p.Phe466=) rs146929022 0.00010
NM_001005361.3(DNM2):c.2313G>A (p.Pro771=) rs147463138 0.00009
NM_001005361.3(DNM2):c.555C>T (p.Asp185=) rs140788791 0.00009
NM_001376.5(DYNC1H1):c.7152C>T (p.Ser2384=) rs376471830 0.00009
NM_004637.6(RAB7A):c.-115C>T rs374777610 0.00009
NM_001005361.3(DNM2):c.1377C>T (p.Ile459=) rs369345296 0.00007
NM_001540.5(HSPB1):c.399C>T (p.Tyr133=) rs140791936 0.00007
NM_001005361.3(DNM2):c.1558-7C>A rs184310103 0.00006
NM_001005361.3(DNM2):c.450A>G (p.Pro150=) rs766121627 0.00006
NM_001376.5(DYNC1H1):c.12685-3C>T rs149824412 0.00006
NM_001005373.4(LRSAM1):c.619+13C>T rs148704769 0.00005
NM_001005361.3(DNM2):c.497G>A (p.Arg166Gln) rs200002469 0.00004
NM_014874.4(MFN2):c.176-7C>T rs374055101 0.00004
NM_001005361.3(DNM2):c.*601C>T rs185820576 0.00003
NM_001005361.3(DNM2):c.890G>A (p.Arg297His) rs763894364 0.00003
NM_001376.5(DYNC1H1):c.1086A>G (p.Thr362=) rs17540728 0.00003
NM_001605.3(AARS1):c.1481G>T (p.Ser494Ile) rs771059047 0.00003
NM_004637.6(RAB7A):c.*1374G>A rs539522952 0.00003
NM_014874.4(MFN2):c.*1562G>A rs551566332 0.00003
NM_001005361.3(DNM2):c.1196+710G>A rs140208362 0.00002
NM_001005361.3(DNM2):c.1671+14G>A rs767768534 0.00002
NM_001005361.3(DNM2):c.1400G>A (p.Arg467Gln) rs776126973 0.00001
NM_001005361.3(DNM2):c.1512G>A (p.Thr504=) rs767407905 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_001005361.3(DNM2):c.*22C>T rs531170486
NM_001005361.3(DNM2):c.*35C>G rs199700849
NM_001005361.3(DNM2):c.*386G>C rs74952080
NM_001005361.3(DNM2):c.162-7C>A rs148318860
NM_001365951.3(KIF1B):c.*249CA[15] rs111663673
NM_001376.5(DYNC1H1):c.11409G>A (p.Pro3803=) rs17512783
NM_001540.5(HSPB1):c.365-7C>T rs201897299
NM_004637.6(RAB7A):c.*229C>T rs147244704
NM_004637.6(RAB7A):c.*846A>G rs532629721
NM_014365.3(HSPB8):c.*616C>G rs6413487
NM_014365.3(HSPB8):c.*616C>T rs6413487
NM_014874.4(MFN2):c.*1258G>A rs116156978
NM_014874.4(MFN2):c.-80C>T rs7538183
NM_170707.4(LMNA):c.-88G>T rs115800510

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