ClinVar Miner

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

Included ClinVar conditions (137):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 671
Download table as spreadsheet
HGVS dbSNP
NC_000007.14:g.30594642G>A
NC_000007.14:g.76302657C>T
NC_000008.11:g.24956698G>C
NM_000166.6(GJB1):c.*117C>T rs41307256
NM_000166.6(GJB1):c.*163G>T rs139775308
NM_000166.6(GJB1):c.*309G>A
NM_000166.6(GJB1):c.*34C>A rs113014279
NM_000166.6(GJB1):c.-6G>A rs201344743
NM_000166.6(GJB1):c.507C>T (p.Asp169=) rs373334326
NM_000304.4(PMP22):c.*173C>T rs117277951
NM_000304.4(PMP22):c.*200T>G
NM_000304.4(PMP22):c.*376C>T
NM_000304.4(PMP22):c.*59A>C rs13422
NM_000304.4(PMP22):c.*890C>T
NM_000304.4(PMP22):c.*912G>A rs149070440
NM_000304.4(PMP22):c.-74A>G rs114365663
NM_000304.4(PMP22):c.-86A>C
NM_000304.4(PMP22):c.178+7C>A rs147885521
NM_000304.4(PMP22):c.403G>A (p.Ala135Thr) rs141094419
NM_000304.4(PMP22):c.79-6C>T rs201682989
NM_000399.5(EGR2):c.*287T>A rs61865883
NM_000399.5(EGR2):c.*288G>A rs117395928
NM_000399.5(EGR2):c.*429G>A rs114237833
NM_000399.5(EGR2):c.*874A>G rs61865882
NM_000399.5(EGR2):c.1086A>C (p.Arg362=) rs45602133
NM_000399.5(EGR2):c.169+10G>T rs114201658
NM_000530.8(MPZ):c.*1048A>T rs71639057
NM_000530.8(MPZ):c.*195G>T rs150182811
NM_000530.8(MPZ):c.*360C>G
NM_000530.8(MPZ):c.*52G>A rs774701563
NM_000530.8(MPZ):c.*568C>G rs60731755
NM_000530.8(MPZ):c.*624C>T rs60821801
NM_000530.8(MPZ):c.*743C>T rs140992541
NM_000530.8(MPZ):c.*761A>G rs16832786
NM_000530.8(MPZ):c.*901_*902GA[7] rs149030537
NM_000530.8(MPZ):c.-49C>A rs750777955
NM_000530.8(MPZ):c.600G>A (p.Gly200=) rs16832790
NM_000530.8(MPZ):c.684C>T (p.Ser228=) rs34307129
NM_000530.8(MPZ):c.77C>T (p.Pro26Leu) rs530923760
NM_001005360.2(DNM2):c.*10G>A rs200188660
NM_001005360.2(DNM2):c.*14C>T rs369529119
NM_001005360.2(DNM2):c.*22C>T rs531170486
NM_001005360.2(DNM2):c.*268A>T rs12461992
NM_001005360.2(DNM2):c.*35C>G rs199700849
NM_001005360.2(DNM2):c.*385C>T rs78160240
NM_001005360.2(DNM2):c.*386G>C rs74952080
NM_001005360.2(DNM2):c.*453C>T rs200104482
NM_001005360.2(DNM2):c.*47G>A rs367938944
NM_001005360.2(DNM2):c.*601C>T rs185820576
NM_001005360.2(DNM2):c.*607G>A rs117954916
NM_001005360.2(DNM2):c.1077C>T (p.Gly359=) rs112238216
NM_001005360.2(DNM2):c.1335+13C>T rs150975494
NM_001005360.2(DNM2):c.1377C>T (p.Ile459=) rs369345296
NM_001005360.2(DNM2):c.1384A>G (p.Thr462Ala) rs201575500
NM_001005360.2(DNM2):c.1423-12G>A rs376753915
NM_001005360.2(DNM2):c.1512G>A (p.Thr504=) rs767407905
NM_001005360.2(DNM2):c.162-7C>A rs148318860
NM_001005360.2(DNM2):c.1782-11C>T rs78580529
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.2061G>A (p.Thr687=) rs149164657
NM_001005360.2(DNM2):c.2160C>T (p.Asp720=) rs117598326
NM_001005360.2(DNM2):c.2179C>T (p.His727Tyr) rs142963320
NM_001005360.2(DNM2):c.2313G>A (p.Pro771=) rs147463138
NM_001005360.2(DNM2):c.235+12C>A rs147026993
NM_001005360.2(DNM2):c.235+6A>G rs113192269
NM_001005360.2(DNM2):c.236-8C>G rs143084059
NM_001005360.2(DNM2):c.238C>T (p.His80Tyr) rs148790687
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.450A>G (p.Pro150=) rs766121627
NM_001005360.2(DNM2):c.497G>A (p.Arg166Gln) rs200002469
NM_001005360.2(DNM2):c.519T>C (p.Ala173=) rs77702567
NM_001005360.2(DNM2):c.528C>T (p.Pro176=) rs147579870
NM_001005360.2(DNM2):c.555C>T (p.Asp185=) rs140788791
NM_001005360.2(DNM2):c.788C>T (p.Pro263Leu) rs3745674
NM_001005360.2(DNM2):c.882G>A (p.Pro294=) rs144790170
NM_001005360.2(DNM2):c.890G>A (p.Arg297His) rs763894364
NM_001005360.2(DNM2):c.958G>A (p.Asp320Asn) rs150613209
NM_001005361.3(DNM2):c.*321A>G
NM_001005361.3(DNM2):c.*671T>C
NM_001005361.3(DNM2):c.1196+710G>A
NM_001005361.3(DNM2):c.1400G>A (p.Arg467Gln)
NM_001005361.3(DNM2):c.1558-7C>A rs184310103
NM_001005361.3(DNM2):c.1671+14G>A
NM_001005361.3(DNM2):c.2139T>C (p.Ala713=) rs2229920
NM_001135242.2(NDRG1):c.64-6T>C rs2272653
NM_001136473.1(LITAF):c.*1029G>A rs192766322
NM_001136473.1(LITAF):c.*1058C>T rs75472256
NM_001136473.1(LITAF):c.*1376A>G rs7102
NM_001136473.1(LITAF):c.*1540C>A rs80119580
NM_001136473.1(LITAF):c.*1618T>G rs77423500
NM_001136473.1(LITAF):c.*1752G>A rs62022848
NM_001136473.1(LITAF):c.*1757C>G
NM_001136473.1(LITAF):c.*224C>T rs149712652
NM_001136473.1(LITAF):c.*268C>T rs1801977
NM_001136473.1(LITAF):c.*546C>T rs13336723
NM_001136473.1(LITAF):c.*564G>A rs13337025
NM_001136473.1(LITAF):c.*578C>A rs192516633
NM_001136473.1(LITAF):c.*836G>T rs117082330
NM_001136473.1(LITAF):c.*921T>C rs1198
NM_001136473.1(LITAF):c.*941T>A rs7187810
NM_001136473.1(LITAF):c.-6+558C>T rs528624227
NM_001136473.1(LITAF):c.-6+594A>G rs12921437
NM_001136473.1(LITAF):c.234G>A (p.Thr78=) rs9282774
NM_001136473.1(LITAF):c.274A>G (p.Ile92Val) rs4280262
NM_001136473.1(LITAF):c.333C>T (p.Ala111=) rs34448402
NM_001136473.1(LITAF):c.357C>T (p.Cys119=) rs549492447
NM_001243571.2(MTMR2):c.-404+13C>T rs139510268
NM_001243571.2(MTMR2):c.1288G>C (p.Glu430Gln) rs61735578
NM_001243571.2(MTMR2):c.915C>T (p.Thr305=) rs566204
NM_001282625.2(LMNA):c.-206-17C>T
NM_001316772.1(GARS1):c.-231T>A rs527307703
NM_001316772.1(GARS1):c.-339T>C rs78980639
NM_001376.5(DYNC1H1):c.*190A>G rs13901
NM_001376.5(DYNC1H1):c.*232C>T rs17512996
NM_001376.5(DYNC1H1):c.-53G>A rs2273436
NM_001376.5(DYNC1H1):c.-5A>G rs17511858
NM_001376.5(DYNC1H1):c.1086A>G (p.Thr362=)
NM_001376.5(DYNC1H1):c.10950C>T (p.Asn3650=) rs17541505
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.11765C>T (p.Pro3922Leu) rs141696238
NM_001376.5(DYNC1H1):c.12087C>A (p.His4029Gln) rs10129889
NM_001376.5(DYNC1H1):c.12159A>T (p.Gly4053=) rs115992196
NM_001376.5(DYNC1H1):c.12514-9C>A rs74874468
NM_001376.5(DYNC1H1):c.12685-3C>T rs149824412
NM_001376.5(DYNC1H1):c.13080T>C (p.Thr4360=) rs13749
NM_001376.5(DYNC1H1):c.13219-9C>T rs17541650
NM_001376.5(DYNC1H1):c.13372+4C>T rs17541657
NM_001376.5(DYNC1H1):c.13372+9G>A rs1004903
NM_001376.5(DYNC1H1):c.1587C>T (p.Asn529=) rs138418906
NM_001376.5(DYNC1H1):c.2511A>G (p.Ala837=) rs17512054
NM_001376.5(DYNC1H1):c.2625G>A (p.Ser875=) rs17512082
NM_001376.5(DYNC1H1):c.2721T>C (p.Ile907=) rs114021657
NM_001376.5(DYNC1H1):c.3600A>G (p.Gln1200=) rs12893215
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.4395+2C>T rs192594531
NM_001376.5(DYNC1H1):c.4515G>A (p.Ser1505=) rs186932188
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.5298G>T (p.Leu1766=) rs149395439
NM_001376.5(DYNC1H1):c.6221+13G>T rs17541088
NM_001376.5(DYNC1H1):c.624G>A (p.Pro208=) rs3818188
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.7239G>T (p.Leu2413=) rs138407720
NM_001376.5(DYNC1H1):c.738A>G (p.Gln246=) rs117189734
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.8886+13G>A rs17541317
NM_001376.5(DYNC1H1):c.8928A>G (p.Leu2976=) rs8010870
NM_001540.4(HSPB1):c.-46C>T rs35907174
NM_001540.5(HSPB1):c.*11C>T rs1058872
NM_001540.5(HSPB1):c.-19C>T rs199602956
NM_001540.5(HSPB1):c.178C>T (p.Pro60Ser) rs61751217
NM_001540.5(HSPB1):c.365-7C>T
NM_001540.5(HSPB1):c.36G>T (p.Arg12=) rs145369859
NM_001540.5(HSPB1):c.399C>T (p.Tyr133=)
NM_001605.2(AARS1):c.*251A>C rs116553521
NM_001605.2(AARS1):c.*74A>T rs11537663
NM_001605.2(AARS1):c.1044G>C (p.Thr348=) rs181264712
NM_001605.2(AARS1):c.1332G>A (p.Glu444=) rs150442667
NM_001605.2(AARS1):c.1404C>T (p.Tyr468=) rs117598688
NM_001605.2(AARS1):c.1428G>C (p.Arg476=) rs80257731
NM_001605.2(AARS1):c.1481G>T (p.Ser494Ile) rs771059047
NM_001605.2(AARS1):c.1672-4T>A rs187509039
NM_001605.2(AARS1):c.1685C>T (p.Thr562Ile) rs148355156
NM_001605.2(AARS1):c.2185C>T (p.Arg729Trp) rs138081804
NM_001605.2(AARS1):c.2521-3C>T rs200586605
NM_001605.2(AARS1):c.2608-6C>A rs200965527
NM_001605.2(AARS1):c.2715T>C (p.Val905=) rs4081753
NM_001605.2(AARS1):c.2791G>A (p.Gly931Ser) rs149377346
NM_001605.2(AARS1):c.2900A>T (p.Lys967Met) rs35744709
NM_001605.2(AARS1):c.561C>T (p.Cys187=) rs78523270
NM_001605.2(AARS1):c.64G>A (p.Glu22Lys) rs151091410
NM_001605.2(AARS1):c.671+3A>G rs74024185
NM_001605.2(AARS1):c.700C>T (p.Pro234Ser) rs141840552
NM_001605.2(AARS1):c.741G>A (p.Leu247=) rs148075561
NM_001605.2(AARS1):c.824G>A (p.Gly275Asp) rs11537667
NM_001605.2(AARS1):c.903C>T (p.His301=) rs2070203
NM_001605.2(AARS1):c.904G>A (p.Ala302Thr) rs576221121
NM_001605.3(AARS1):c.*141A>G
NM_002047.3(GARS):c.-205C>T rs17159262
NM_002047.3(GARS):c.-217A>G rs2970504
NM_002047.3(GARS):c.-225G>A rs148593022
NM_002047.3(GARS):c.-317G>A rs116125961
NM_002047.4(GARS1):c.*67C>G rs142498676
NM_002047.4(GARS1):c.*73A>G rs113598818
NM_002047.4(GARS1):c.1031+14T>G rs189589556
NM_002047.4(GARS1):c.1062T>C (p.Phe354=) rs11553502
NM_002047.4(GARS1):c.1163G>A (p.Arg388Gln) rs17159287
NM_002047.4(GARS1):c.11C>T (p.Pro4Leu) rs62636572
NM_002047.4(GARS1):c.124C>G (p.Pro42Ala) rs1049402
NM_002047.4(GARS1):c.1420C>A (p.Arg474=) rs113958280
NM_002047.4(GARS1):c.1613+9T>C rs75855065
NM_002047.4(GARS1):c.1761G>A (p.Thr587=) rs3886641
NM_002047.4(GARS1):c.1833T>C (p.Val611=) rs14270
NM_002047.4(GARS1):c.2095-6C>T rs2240401
NM_002047.4(GARS1):c.2145A>G (p.Thr715=) rs4593
NM_002047.4(GARS1):c.222+5C>T rs2072236
NM_002047.4(GARS1):c.747T>C (p.Tyr249=) rs7808770
NM_002047.4(GARS1):c.803C>T (p.Thr268Ile) rs2230310
NM_002047.4(GARS1):c.93G>C (p.Leu31=) rs2529438
NM_003001.3(SDHC):c.-38G>A rs112556972
NM_003001.3(SDHC):c.20+11_20+12dup rs35215598
NM_003680.3(YARS1):c.*138G>A rs41265857
NM_003680.3(YARS1):c.*21C>A rs149812692
NM_003680.3(YARS1):c.*284A>G rs150690731
NM_003680.3(YARS1):c.*293A>G rs16866009
NM_003680.3(YARS1):c.*386G>T rs144131403
NM_003680.3(YARS1):c.*439T>C rs184249741
NM_003680.3(YARS1):c.*680A>G rs536402126
NM_003680.3(YARS1):c.*681T>G rs78319035
NM_003680.3(YARS1):c.-129C>A
NM_003680.3(YARS1):c.-188G>T
NM_003680.3(YARS1):c.-245T>C
NM_003680.3(YARS1):c.-283G>A rs113748028
NM_003680.3(YARS1):c.1015G>A (p.Ala339Thr) rs141323599
NM_003680.3(YARS1):c.1080A>G (p.Pro360=) rs752514117
NM_003680.3(YARS1):c.1141-9C>G rs761211081
NM_003680.3(YARS1):c.1218G>C (p.Leu406=) rs699005
NM_003680.3(YARS1):c.1228G>A (p.Val410Met) rs146393022
NM_003680.3(YARS1):c.1275C>T (p.Asn425=) rs778718842
NM_003680.3(YARS1):c.1291A>T (p.Met431Leu) rs149620809
NM_003680.3(YARS1):c.135G>A (p.Thr45=)
NM_003680.3(YARS1):c.1374G>A (p.Pro458=) rs151227410
NM_003680.3(YARS1):c.415G>A (p.Val139Met) rs772729857
NM_003680.3(YARS1):c.52C>T (p.Leu18=) rs147538442
NM_003680.3(YARS1):c.57+14G>T rs72654020
NM_003680.3(YARS1):c.60G>A (p.Glu20=) rs143712443
NM_004637.5(RAB7A):c.*1374G>A rs539522952
NM_004637.5(RAB7A):c.*163T>G rs182521602
NM_004637.5(RAB7A):c.*189A>G rs11549750
NM_004637.5(RAB7A):c.*206G>A rs16851333
NM_004637.5(RAB7A):c.*625T>C rs545004919
NM_004637.5(RAB7A):c.*863C>G rs59753334
NM_004637.5(RAB7A):c.*997T>C rs3755593
NM_004637.5(RAB7A):c.-115C>T rs374777610
NM_004637.5(RAB7A):c.-215C>T rs560785742
NM_004637.5(RAB7A):c.-29G>T rs112000804
NM_004637.5(RAB7A):c.-97C>G rs141622970
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.495G>A (p.Ala165=) rs146566121
NM_004637.5(RAB7A):c.87G>A (p.Val29=) rs145441548
NM_004637.6(RAB7A):c.*229C>T
NM_004637.6(RAB7A):c.*846A>G
NM_006096.3(NDRG1):c.*100G>A rs2233348
NM_006096.3(NDRG1):c.*1135G>A rs10675
NM_006096.3(NDRG1):c.*1294T>C rs144034977
NM_006096.3(NDRG1):c.*691G>A rs1049694
NM_006096.3(NDRG1):c.*69C>T rs114738844
NM_006096.3(NDRG1):c.*711C>T rs16904866
NM_006096.3(NDRG1):c.*834T>A rs79281324
NM_006096.3(NDRG1):c.*866A>T rs16904865
NM_006096.3(NDRG1):c.*956T>C rs1049697
NM_006096.3(NDRG1):c.-120C>T rs11575971
NM_006096.3(NDRG1):c.199A>G (p.Met67Val) rs2233319
NM_006096.3(NDRG1):c.755+10T>C rs2233336
NM_006096.3(NDRG1):c.756-5C>T rs2227262
NM_006096.3(NDRG1):c.892-5C>T rs2233346
NM_006158.4(NEFL):c.*101A>G rs34505194
NM_006158.4(NEFL):c.*1344G>A rs79034217
NM_006158.4(NEFL):c.*1806T>C rs192937928
NM_006158.4(NEFL):c.*244A>G rs78869168
NM_006158.4(NEFL):c.*486T>G rs562682645
NM_006158.4(NEFL):c.*82T>A rs148654058
NM_006158.4(NEFL):c.*878A>G rs189452316
NM_006158.4(NEFL):c.-176C>A rs2979688
NM_006158.4(NEFL):c.1402G>A (p.Asp468Asn) rs57153321
NM_006158.4(NEFL):c.227T>C (p.Val76Ala) rs58907919
NM_006158.4(NEFL):c.639C>G (p.Ile213Met) rs62636522
NM_006158.5(NEFL):c.*1293A>G
NM_006158.5(NEFL):c.1407G>A (p.Glu469=) rs543609297
NM_006329.3(FBLN5):c.*326G>A rs79375113
NM_006329.3(FBLN5):c.*329T>C rs115237925
NM_006329.3(FBLN5):c.*514A>G rs17804735
NM_006329.3(FBLN5):c.*623A>T rs77357345
NM_006329.3(FBLN5):c.-152C>T rs139387007
NM_006329.3(FBLN5):c.-414C>T rs7149187
NM_006329.3(FBLN5):c.-458G>A rs369441736
NM_006329.3(FBLN5):c.1122C>T (p.Tyr374=) rs145515678
NM_006329.3(FBLN5):c.502+15G>C rs190933127
NM_006329.3(FBLN5):c.863-13C>T rs74071606
NM_006329.3(FBLN5):c.945T>C (p.Ile315=) rs2430347
NM_006329.3(FBLN5):c.989+13G>A rs74071605
NM_014365.2(HSPB8):c.*440C>G rs13378054
NM_014365.2(HSPB8):c.*581G>A rs56754798
NM_014365.2(HSPB8):c.*616C>G rs6413487
NM_014365.2(HSPB8):c.*616C>T rs6413487
NM_014365.2(HSPB8):c.*644A>G rs11038
NM_014365.2(HSPB8):c.*684G>A rs1133026
NM_014365.2(HSPB8):c.-193T>C rs11549401
NM_014365.2(HSPB8):c.-457A>G rs564088535
NM_014365.2(HSPB8):c.402T>C (p.Ile134=) rs56323028
NM_014365.2(HSPB8):c.499G>A (p.Glu167Lys) rs148514935
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_014845.5(FIG4):c.*120C>T rs1127775
NM_014845.5(FIG4):c.*14C>T rs114136062
NM_014845.5(FIG4):c.*29G>A rs10659
NM_014845.5(FIG4):c.*7C>T rs113946190
NM_014845.5(FIG4):c.-120C>T rs75045314
NM_014845.5(FIG4):c.-121G>A rs75509752
NM_014845.5(FIG4):c.-182G>A rs55873083
NM_014845.5(FIG4):c.1090A>T (p.Met364Leu) rs2295837
NM_014845.5(FIG4):c.1242T>C (p.Ile414=) rs61729087
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.27C>T (p.Ile9=) rs141040807
NM_014845.5(FIG4):c.66+10C>T rs200063827
NM_014845.5(FIG4):c.67-7T>C rs56378532
NM_014845.5(FIG4):c.808A>G (p.Thr270Ala) rs61729092
NM_014874.3(MFN2):c.*1100A>G rs41278638
NM_014874.3(MFN2):c.*1161C>A rs115706485
NM_014874.3(MFN2):c.*1258G>A rs116156978
NM_014874.3(MFN2):c.*1488C>T rs11554507
NM_014874.3(MFN2):c.*1546G>A rs3737960
NM_014874.3(MFN2):c.*1562G>A rs551566332
NM_014874.3(MFN2):c.*1576C>T rs78523898
NM_014874.3(MFN2):c.*1706T>G rs543365043
NM_014874.3(MFN2):c.*231G>A rs41278636
NM_014874.3(MFN2):c.*58A>G rs1042842
NM_014874.3(MFN2):c.*730C>T rs112550280
NM_014874.3(MFN2):c.*777T>C rs112854268
NM_014874.3(MFN2):c.*896G>C rs3088064
NM_014874.3(MFN2):c.*912C>T rs14305
NM_014874.3(MFN2):c.-161G>A rs140094248
NM_014874.3(MFN2):c.-212T>C rs2180183
NM_014874.3(MFN2):c.-249T>A rs2180182
NM_014874.3(MFN2):c.-287C>T rs2180181
NM_014874.3(MFN2):c.-367A>G rs2236054
NM_014874.3(MFN2):c.-4-13G>T rs373679523
NM_014874.3(MFN2):c.1452G>A (p.Thr484=) rs150043585
NM_014874.3(MFN2):c.1495+9C>T rs375494746
NM_014874.3(MFN2):c.150C>A (p.Ile50=) rs78841746
NM_014874.3(MFN2):c.1569C>T (p.Ser523=) rs1042837
NM_014874.3(MFN2):c.165C>T (p.Thr55=) rs77458527
NM_014874.3(MFN2):c.176-7C>T rs374055101
NM_014874.3(MFN2):c.179C>T (p.Thr60Met) rs138345244
NM_014874.3(MFN2):c.1806C>T (p.Ser602=) rs201258935
NM_014874.3(MFN2):c.1920C>G (p.Leu640=) rs141468012
NM_014874.3(MFN2):c.1950G>A (p.Leu650=) rs772030424
NM_014874.3(MFN2):c.2113G>A (p.Val705Ile) rs142271930
NM_014874.3(MFN2):c.2204+15T>C rs77262016
NM_014874.3(MFN2):c.2205-13C>A rs76020240
NM_014874.3(MFN2):c.474+4A>G rs141974160
NM_014874.3(MFN2):c.522T>C (p.His174=) rs762789747
NM_014874.3(MFN2):c.744C>T (p.Leu248=) rs61733205
NM_014874.3(MFN2):c.891C>T (p.Ala297=) rs11554508
NM_014874.3(MFN2):c.957C>T (p.Gly319=) rs41278632
NM_014874.3(MFN2):c.975C>T (p.Gly325=) rs141475476
NM_014874.4(MFN2):c.*1034C>T
NM_014874.4(MFN2):c.*1830C>T
NM_014874.4(MFN2):c.*226C>T
NM_014874.4(MFN2):c.*26G>A
NM_014874.4(MFN2):c.*304A>G
NM_014874.4(MFN2):c.-80C>T
NM_016156.5(MTMR2):c.*1066T>C rs16922622
NM_016156.5(MTMR2):c.*1226_*1228del rs142663762
NM_016156.5(MTMR2):c.*1396C>T rs16922615
NM_016156.5(MTMR2):c.*1419G>A rs496305
NM_016156.5(MTMR2):c.*1444C>G rs149223349
NM_016156.5(MTMR2):c.*1568C>T rs596277
NM_016156.5(MTMR2):c.*1934T>C rs525404
NM_016156.5(MTMR2):c.*1952G>A rs118033833
NM_016156.5(MTMR2):c.*2014T>G rs112404010
NM_016156.5(MTMR2):c.*2406C>T rs16922613
NM_016156.5(MTMR2):c.*549G>A rs611020
NM_016156.5(MTMR2):c.*85A>C rs578159
NM_016156.5(MTMR2):c.*987T>C rs57807625
NM_016156.5(MTMR2):c.1233G>A (p.Thr411=) rs113897932
NM_016156.5(MTMR2):c.16A>T (p.Ser6Cys) rs377006678
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.*1173G>T rs72665430
NM_018972.4(GDAP1):c.*1429A>G rs78545774
NM_018972.4(GDAP1):c.*1647C>T rs115466662
NM_018972.4(GDAP1):c.*1855A>G rs6472842
NM_018972.4(GDAP1):c.*1878G>T rs16938896
NM_018972.4(GDAP1):c.*2214A>G rs10504580
NM_018972.4(GDAP1):c.*2244T>C
NM_018972.4(GDAP1):c.*2463A>G rs9643686
NM_018972.4(GDAP1):c.*357A>G rs1135715
NM_018972.4(GDAP1):c.*561C>G rs80136809
NM_018972.4(GDAP1):c.*61C>T
NM_018972.4(GDAP1):c.*797A>G rs7007283
NM_018972.4(GDAP1):c.*830C>G rs4737414
NM_018972.4(GDAP1):c.*920C>G
NM_018972.4(GDAP1):c.507T>G (p.Ser169=) rs11554166
NM_020956.2(PRX):c.*1256C>T rs73933276
NM_020956.2(PRX):c.*1486C>T rs76960467
NM_020956.2(PRX):c.*1688G>C rs146789340
NM_020956.2(PRX):c.*1830G>A rs139586219
NM_020956.2(PRX):c.*2169C>T rs118003416
NM_020956.2(PRX):c.*2222A>G rs61735531
NM_020956.2(PRX):c.*2306G>A rs116855701
NM_020956.2(PRX):c.*2674G>A rs61733450
NM_020956.2(PRX):c.*2850T>C rs268671
NM_020956.2(PRX):c.*2860T>C rs268672
NM_020956.2(PRX):c.*2932C>T rs61735546
NM_020956.2(PRX):c.*2968A>G rs268673
NM_020956.2(PRX):c.*3423A>G rs61733451
NM_020956.2(PRX):c.*3453C>G rs3745202
NM_020956.2(PRX):c.*3599G>A rs268674
NM_020956.2(PRX):c.*3907C>T rs139950446
NM_020956.2(PRX):c.*4051G>A rs143289108
NM_020956.2(PRX):c.*4249G>C rs76088917
NM_020956.2(PRX):c.*676G>A rs4803335
NM_020956.2(PRX):c.*759G>A rs76756143
NM_020956.2(PRX):c.133C>G (p.Arg45Gly) rs115090201
NM_020956.2(PRX):c.306C>T (p.Thr102=) rs744389
NM_021625.4(TRPV4):c.*230G>A rs181542514
NM_021625.4(TRPV4):c.*365C>T rs184413363
NM_021625.4(TRPV4):c.*378G>C rs538255561
NM_021625.4(TRPV4):c.*423G>A rs151286044
NM_021625.4(TRPV4):c.*486T>C rs79157363
NM_021625.4(TRPV4):c.1153-10C>T rs149541389
NM_021625.4(TRPV4):c.1341C>T (p.His447=) rs57316123
NM_021625.4(TRPV4):c.1398C>T (p.Phe466=) rs146929022
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.2034C>T (p.Ile678=) rs3742037
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.549G>A (p.Glu183=) rs141908793
NM_021625.4(TRPV4):c.55C>T (p.Pro19Ser) rs3742030
NM_021625.4(TRPV4):c.649G>T (p.Ala217Ser) rs187864727
NM_021625.4(TRPV4):c.670A>C (p.Arg224=) rs3825394
NM_021625.4(TRPV4):c.712+10C>T rs115657305
NM_021625.4(TRPV4):c.789T>C (p.Asp263=) rs3742034
NM_021625.4(TRPV4):c.795C>T (p.His265=) rs1344554
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.854-5C>T rs116401333
NM_021625.5(TRPV4):c.*190C>T
NM_022753.4(S100PBP):c.-120+178C>T
NM_022753.4(S100PBP):c.-120+19G>A rs534491159
NM_022753.4(S100PBP):c.-120+217C>T rs112104823
NM_022753.4(S100PBP):c.-120+238G>A rs72654022
NM_022753.4(S100PBP):c.-120+293G>C rs3737251
NM_022753.4(S100PBP):c.-120+296G>A rs547181978
NM_022753.4(S100PBP):c.-120+94C>A rs114349735
NM_022753.4(S100PBP):c.-123G>A rs115959445
NM_022753.4(S100PBP):c.-128C>T rs537314587
NM_024577.3(SH3TC2):c.*10099A>T rs570266229
NM_024577.3(SH3TC2):c.*10101C>T rs552099019
NM_024577.3(SH3TC2):c.*10120C>A rs13355933
NM_024577.3(SH3TC2):c.*10485G>A rs76931184
NM_024577.3(SH3TC2):c.*10767G>A rs139720866
NM_024577.3(SH3TC2):c.*10968G>A rs13166730
NM_024577.3(SH3TC2):c.*11120G>A rs2069087
NM_024577.3(SH3TC2):c.*11390A>G rs3213854
NM_024577.3(SH3TC2):c.*11852G>T rs13359285
NM_024577.3(SH3TC2):c.*122G>T rs114151926
NM_024577.3(SH3TC2):c.*12969C>A rs76955068
NM_024577.3(SH3TC2):c.*1309C>T rs1007401
NM_024577.3(SH3TC2):c.*13514A>G rs78516040
NM_024577.3(SH3TC2):c.*14411G>A rs143623684
NM_024577.3(SH3TC2):c.*14562G>A rs17109198
NM_024577.3(SH3TC2):c.*14621G>T rs17795097
NM_024577.3(SH3TC2):c.*14766T>A rs891919
NM_024577.3(SH3TC2):c.*14856C>A rs891920
NM_024577.3(SH3TC2):c.*14894G>A rs17109192
NM_024577.3(SH3TC2):c.*15061C>T rs115722370
NM_024577.3(SH3TC2):c.*15823T>C rs4562031
NM_024577.3(SH3TC2):c.*16020A>C rs4543254
NM_024577.3(SH3TC2):c.*1639T>C rs1007400
NM_024577.3(SH3TC2):c.*16631G>A rs4705303
NM_024577.3(SH3TC2):c.*16950T>C rs10040798
NM_024577.3(SH3TC2):c.*17036C>G rs75086059
NM_024577.3(SH3TC2):c.*17317G>A rs78254952
NM_024577.3(SH3TC2):c.*17703A>G rs4235739
NM_024577.3(SH3TC2):c.*17903A>G rs76444127
NM_024577.3(SH3TC2):c.*18299C>T rs147903089
NM_024577.3(SH3TC2):c.*18554G>T rs10040598
NM_024577.3(SH3TC2):c.*19040A>G rs930205
NM_024577.3(SH3TC2):c.*1909G>T rs998304
NM_024577.3(SH3TC2):c.*19270G>A rs149188140
NM_024577.3(SH3TC2):c.*1935T>C rs6883926
NM_024577.3(SH3TC2):c.*19406A>T rs72835351
NM_024577.3(SH3TC2):c.*19519G>A rs10039839
NM_024577.3(SH3TC2):c.*19564dup rs5872105
NM_024577.3(SH3TC2):c.*19573G>A rs4560536
NM_024577.3(SH3TC2):c.*19919T>C rs2217638
NM_024577.3(SH3TC2):c.*20166T>A rs17795091
NM_024577.3(SH3TC2):c.*20463T>C rs77021631
NM_024577.3(SH3TC2):c.*2397G>A rs17722155
NM_024577.3(SH3TC2):c.*2428C>T rs149384180
NM_024577.3(SH3TC2):c.*2862G>A rs116548620
NM_024577.3(SH3TC2):c.*2900G>T rs3763019
NM_024577.3(SH3TC2):c.*2956C>T rs3763020
NM_024577.3(SH3TC2):c.*3077C>T rs1045942
NM_024577.3(SH3TC2):c.*3136G>A rs1019927
NM_024577.3(SH3TC2):c.*3196T>C rs3763022
NM_024577.3(SH3TC2):c.*3694T>A rs115774169
NM_024577.3(SH3TC2):c.*3860G>A rs1432797
NM_024577.3(SH3TC2):c.*391G>C rs117139060
NM_024577.3(SH3TC2):c.*4555A>G rs117287440
NM_024577.3(SH3TC2):c.*4719C>G rs6885467
NM_024577.3(SH3TC2):c.*47C>T rs79738100
NM_024577.3(SH3TC2):c.*5490G>A rs1432795
NM_024577.3(SH3TC2):c.*5799C>T rs17109208
NM_024577.3(SH3TC2):c.*5999G>A rs79866394
NM_024577.3(SH3TC2):c.*6051G>A rs146293131
NM_024577.3(SH3TC2):c.*6162C>T rs17795115
NM_024577.3(SH3TC2):c.*6242A>G rs142279453
NM_024577.3(SH3TC2):c.*6436G>T rs11168079
NM_024577.3(SH3TC2):c.*6510G>A rs116056843
NM_024577.3(SH3TC2):c.*6623G>A rs78100143
NM_024577.3(SH3TC2):c.*6692A>G rs11168078
NM_024577.3(SH3TC2):c.*719G>A rs10050933
NM_024577.3(SH3TC2):c.*7292C>T rs1347130
NM_024577.3(SH3TC2):c.*8053G>A rs115027318
NM_024577.3(SH3TC2):c.*8248G>C rs56309414
NM_024577.3(SH3TC2):c.*8756G>T rs7733177
NM_024577.3(SH3TC2):c.*929G>C rs1432798
NM_024577.3(SH3TC2):c.1177+10G>A rs139257109
NM_024577.3(SH3TC2):c.1194T>C (p.Gly398=) rs1432793
NM_024577.3(SH3TC2):c.1350G>A (p.Pro450=) rs17722227
NM_024577.3(SH3TC2):c.137A>C (p.Gln46Pro) rs146162276
NM_024577.3(SH3TC2):c.1402G>T (p.Ala468Ser) rs6875902
NM_024577.3(SH3TC2):c.1403C>T (p.Ala468Val) rs6874630
NM_024577.3(SH3TC2):c.1587T>G (p.Arg529=) rs1432794
NM_024577.3(SH3TC2):c.2087A>G (p.His696Arg) rs17109261
NM_024577.3(SH3TC2):c.2235T>G (p.Ala745=) rs78120278
NM_024577.3(SH3TC2):c.2322C>T (p.Asp774=) rs17795193
NM_024577.3(SH3TC2):c.2691C>G (p.Asn897Lys) rs73795753
NM_024577.3(SH3TC2):c.2872+9G>A rs76488338
NM_024577.3(SH3TC2):c.2913C>T (p.Ser971=) rs13436308
NM_024577.3(SH3TC2):c.3294C>T (p.Thr1098=) rs193067884
NM_024577.3(SH3TC2):c.3362C>T (p.Ala1121Val) rs115577291
NM_024577.3(SH3TC2):c.3472G>A (p.Val1158Ile) rs55853803
NM_024577.3(SH3TC2):c.3594A>C (p.Pro1198=) rs6871030
NM_024577.3(SH3TC2):c.3594A>G (p.Pro1198=) rs6871030
NM_024577.3(SH3TC2):c.3834G>A (p.Ala1278=) rs117804174
NM_024577.3(SH3TC2):c.477T>A (p.Ser159=) rs77574155
NM_024577.3(SH3TC2):c.512G>A (p.Gly171Glu) rs17722293
NM_024577.3(SH3TC2):c.558C>T (p.Ser186=) rs141289653
NM_024577.3(SH3TC2):c.645C>T (p.Ser215=) rs80227512
NM_024577.4(SH3TC2):c.*10614G>A
NM_024577.4(SH3TC2):c.*11604G>A
NM_024577.4(SH3TC2):c.*12190G>A
NM_024577.4(SH3TC2):c.*1246G>A
NM_024577.4(SH3TC2):c.*14750A>G
NM_024577.4(SH3TC2):c.*18699T>G
NM_024577.4(SH3TC2):c.*20207C>T
NM_024577.4(SH3TC2):c.*2237G>A
NM_024577.4(SH3TC2):c.*3246A>C
NM_024577.4(SH3TC2):c.*39A>C
NM_024577.4(SH3TC2):c.*4603C>T
NM_024577.4(SH3TC2):c.*4638A>T
NM_024577.4(SH3TC2):c.*6392C>T
NM_024577.4(SH3TC2):c.*7251A>G
NM_024577.4(SH3TC2):c.*7451C>T
NM_024577.4(SH3TC2):c.*9504G>A
NM_030962.3(SBF2):c.*1144A>G rs3751001
NM_030962.3(SBF2):c.*1364C>T rs10118
NM_030962.3(SBF2):c.*1399T>C rs60154961
NM_030962.3(SBF2):c.*1413A>G rs59613534
NM_030962.3(SBF2):c.*1515G>A rs1045634
NM_030962.3(SBF2):c.*1619A>C rs360126
NM_030962.3(SBF2):c.*177A>C rs192542785
NM_030962.3(SBF2):c.*291C>T rs114604750
NM_030962.3(SBF2):c.*40A>C rs3751000
NM_030962.3(SBF2):c.*514C>T rs3829252
NM_030962.3(SBF2):c.*51T>C rs41275194
NM_030962.3(SBF2):c.-118G>T rs563422015
NM_030962.3(SBF2):c.1173A>G (p.Ala391=) rs79470805
NM_030962.3(SBF2):c.2035G>A (p.Glu679Lys) rs7102464
NM_030962.3(SBF2):c.2850C>T (p.Ile950=) rs74642088
NM_030962.3(SBF2):c.3111-6T>C rs16907139
NM_030962.3(SBF2):c.3292C>G (p.Leu1098Val) rs117957652
NM_030962.3(SBF2):c.3646C>G (p.Gln1216Glu) rs12574508
NM_030962.3(SBF2):c.4096C>T (p.Pro1366Ser) rs115927577
NM_030962.3(SBF2):c.4571-6C>T rs2645029
NM_030962.3(SBF2):c.4933-15T>C rs75447733
NM_030962.3(SBF2):c.645T>C (p.Phe215=) rs148187321
NM_030962.3(SBF2):c.909C>T (p.Pro303=) rs16907355
NM_030962.3(SBF2):c.93T>C (p.Phe31=) rs200263159
NM_138361.5(LRSAM1):c.*57G>A rs549468112
NM_138361.5(LRSAM1):c.-575C>T rs116498902
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.1912+5A>C rs2248822
NM_138361.5(LRSAM1):c.1975G>A (p.Val659Met) rs140786088
NM_138361.5(LRSAM1):c.249C>T (p.Ile83=) rs2243906
NM_138361.5(LRSAM1):c.268G>A (p.Asp90Asn) rs117692127
NM_138361.5(LRSAM1):c.548C>T (p.Ser183Leu) rs75690855
NM_138361.5(LRSAM1):c.619+13C>T rs148704769
NM_138361.5(LRSAM1):c.904-9C>T rs1539568
NM_138361.5(LRSAM1):c.952A>G (p.Asn318Asp) rs1539567
NM_138361.5(LRSAM1):c.965A>G (p.Gln322Arg) rs56380300
NM_139241.3(FGD4):c.*1007G>A rs114843464
NM_139241.3(FGD4):c.*1068A>G rs537833755
NM_139241.3(FGD4):c.*1133A>C rs10844268
NM_139241.3(FGD4):c.*1148C>T rs56110646
NM_139241.3(FGD4):c.*1454A>G rs7964947
NM_139241.3(FGD4):c.*1492T>G rs7980205
NM_139241.3(FGD4):c.*1564T>C
NM_139241.3(FGD4):c.*1723C>T rs4931030
NM_139241.3(FGD4):c.*1828A>T rs4931031
NM_139241.3(FGD4):c.*1954A>G rs1239829
NM_139241.3(FGD4):c.*2203T>C rs41276678
NM_139241.3(FGD4):c.*22G>A rs114284024
NM_139241.3(FGD4):c.*2537C>A rs115173894
NM_139241.3(FGD4):c.*27G>A
NM_139241.3(FGD4):c.*290G>A rs79732949
NM_139241.3(FGD4):c.*2928_*2931del rs549931906
NM_139241.3(FGD4):c.*3130G>A rs73087441
NM_139241.3(FGD4):c.*3130G>T rs73087441
NM_139241.3(FGD4):c.*3148del rs797002948
NM_139241.3(FGD4):c.*3340A>C rs75320947
NM_139241.3(FGD4):c.*3630T>C rs73313005
NM_139241.3(FGD4):c.*3770G>T rs11052123
NM_139241.3(FGD4):c.*4063A>G rs62642552
NM_139241.3(FGD4):c.*4128C>T rs12312970
NM_139241.3(FGD4):c.*4192G>T
NM_139241.3(FGD4):c.*4211T>C rs75583772
NM_139241.3(FGD4):c.*4369dup rs35874340
NM_139241.3(FGD4):c.*4438A>G rs11052124
NM_139241.3(FGD4):c.*4454G>A rs147515673
NM_139241.3(FGD4):c.*4652T>C rs16920125
NM_139241.3(FGD4):c.*4956T>A rs149215917
NM_139241.3(FGD4):c.*4988G>A
NM_139241.3(FGD4):c.*4991A>G rs1239830
NM_139241.3(FGD4):c.*5198G>A rs1133509
NM_139241.3(FGD4):c.*792A>T rs140601094
NM_139241.3(FGD4):c.-246G>C rs77113168
NM_139241.3(FGD4):c.-433C>T rs11052033
NM_139241.3(FGD4):c.1059C>T (p.Pro353=) rs16920084
NM_139241.3(FGD4):c.1305G>A (p.Arg435=) rs10844253
NM_139241.3(FGD4):c.1339-12C>T rs73083501
NM_139241.3(FGD4):c.1515T>C (p.Ser505=) rs60803891
NM_139241.3(FGD4):c.1518G>A (p.Ala506=) rs11052110
NM_139241.3(FGD4):c.1636-7T>C rs11052113
NM_139241.3(FGD4):c.1659C>G (p.Ala553=) rs188104446
NM_139241.3(FGD4):c.435C>G (p.Asp145Glu) rs904582
NM_139241.3(FGD4):c.435C>T (p.Asp145=) rs904582
NM_139241.3(FGD4):c.732G>A (p.Ser244=) rs34555341
NM_139241.3(FGD4):c.836+10G>T rs41276676
NM_139241.3(FGD4):c.993+8G>A rs12823621
NM_170707.4(LMNA):c.-88G>T rs115800510
NM_170707.4(LMNA):c.1338T>C (p.Asp446=) rs505058
NM_170707.4(LMNA):c.1584G>A (p.Thr528=) rs80356812
NM_170707.4(LMNA):c.1698C>T (p.His566=) rs4641
NM_170707.4(LMNA):c.357C>T (p.Arg119=) rs41313880
NM_170707.4(LMNA):c.51C>T (p.Ser17=) rs11549668
NM_170707.4(LMNA):c.612G>A (p.Leu204=) rs12117552
NM_170707.4(LMNA):c.810+13G>T rs11264444
NM_170707.4(LMNA):c.811-13T>A rs80356809
NM_170707.4(LMNA):c.861T>C (p.Ala287=) rs538089
NM_181882.3(PRX):c.3673G>A (p.Val1225Met)

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