ClinVar Miner

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

Included ClinVar conditions (137):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 511
Download table as spreadsheet
HGVS dbSNP
NM_000263.4(NAGLU):c.1119G>T (p.Val373=) rs371656965
NM_000263.4(NAGLU):c.1503G>A (p.Val501=) rs537078152
NM_000263.4(NAGLU):c.1515C>T (p.Ser505=) rs112751577
NM_000263.4(NAGLU):c.1557G>A (p.Arg519=) rs150905331
NM_000263.4(NAGLU):c.1563G>A (p.Pro521=) rs61737297
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_000263.4(NAGLU):c.421T>A (p.Ser141Thr) rs61737294
NM_000263.4(NAGLU):c.675G>T (p.Leu225=) rs115680529
NM_000263.4(NAGLU):c.933C>G (p.Ala311=) rs115888189
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.2201A>G (p.Asn734Ser) rs577767034
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.666C>T (p.Asn222=) rs2229921
NM_001005360.2(DNM2):c.788C>T (p.Pro263Leu) rs3745674
NM_001005360.2(DNM2):c.789G>A (p.Pro263=) rs199976453
NM_001005361.3(DNM2):c.2139T>C (p.Ala713=) rs2229920
NM_001005361.3(DNM2):c.386-6T>C rs114623441
NM_001135242.2(NDRG1):c.64-6T>C rs2272653
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_001136473.1(LITAF):c.6G>A (p.Ser2=) rs147187481
NM_001142386.3(PDK3):c.1077+8G>A rs370736936
NM_001142386.3(PDK3):c.282T>C (p.Tyr94=) rs201198782
NM_001142386.3(PDK3):c.341A>C (p.Lys114Thr) rs146331370
NM_001142386.3(PDK3):c.376A>G (p.Met126Val) rs138321172
NM_001142386.3(PDK3):c.51G>C (p.Glu17Asp) rs371137355
NM_001243571.2(MTMR2):c.1288G>C (p.Glu430Gln) rs61735578
NM_001243571.2(MTMR2):c.915C>T (p.Thr305=) rs566204
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.2989C>T (p.Leu997=) rs142766430
NM_001303256.3(MORC2):c.3030+9G>C rs200086094
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.63A>G (p.Thr21=) rs73156742
NM_001303256.3(MORC2):c.894A>G (p.Val298=) rs562612569
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.11765C>T (p.Pro3922Leu) rs141696238
NM_001376.5(DYNC1H1):c.11913C>G (p.Pro3971=) rs201174299
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.12759C>T (p.Gly4253=) rs529010293
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.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.6904G>A (p.Val2302Ile) rs561339487
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.7308G>A (p.Ala2436=) rs754446530
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.7419C>T (p.Asn2473=) rs111459275
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.885G>A (p.Pro295=) rs34287672
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.501C>T (p.Ala167=) rs529095936
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.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.2295C>T (p.His765=) rs149185954
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.2730C>G (p.Gly910=) rs139416105
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.2844G>A (p.Gly948=) rs147918962
NM_002180.2(IGHMBP2):c.2872A>G (p.Asn958Asp) rs141873613
NM_002180.2(IGHMBP2):c.2883G>A (p.Leu961=) rs3750977
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_002180.3(IGHMBP2):c.1149G>A (p.Ala383=) rs201485072
NM_002180.3(IGHMBP2):c.180C>T (p.Tyr60=) rs34617762
NM_003680.3(YARS1):c.1008G>A (p.Leu336=) rs140232925
NM_003680.3(YARS1):c.1015G>A (p.Ala339Thr) rs141323599
NM_003680.3(YARS1):c.1082A>T (p.Glu361Val) rs61737106
NM_003680.3(YARS1):c.1218G>C (p.Leu406=) rs699005
NM_003680.3(YARS1):c.1275C>T (p.Asn425=) rs778718842
NM_003680.3(YARS1):c.1374G>A (p.Pro458=) rs151227410
NM_003680.3(YARS1):c.52C>T (p.Leu18=) rs147538442
NM_003680.3(YARS1):c.60G>A (p.Glu20=) rs143712443
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_004990.4(MARS1):c.1294-5C>T rs149946100
NM_004990.4(MARS1):c.1360C>T (p.Leu454=) rs139002397
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.626G>A (p.Ser209Asn) rs141671963
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_005340.7(HINT1):c.117T>C (p.Leu39=) rs78949626
NM_005340.7(HINT1):c.198A>G (p.Ala66=) rs150581567
NM_005340.7(HINT1):c.330C>T (p.His110=) rs139624223
NM_006070.6(TFG):c.1090A>C (p.Thr364Pro) rs6772054
NM_006070.6(TFG):c.258G>T (p.Leu86=) rs150620449
NM_006070.6(TFG):c.415+7C>G rs149927288
NM_006070.6(TFG):c.416-9T>C rs115896544
NM_006070.6(TFG):c.552G>A (p.Ala184=) rs35648279
NM_006070.6(TFG):c.594T>G (p.Ala198=) rs12562
NM_006070.6(TFG):c.663C>A (p.Gly221=) rs140669729
NM_006070.6(TFG):c.722-8G>T rs41272979
NM_006070.6(TFG):c.945G>A (p.Pro315=) rs61736338
NM_006096.3(NDRG1):c.199A>G (p.Met67Val) rs2233319
NM_006096.3(NDRG1):c.306C>T (p.Gly102=) rs2233322
NM_006096.3(NDRG1):c.331A>C (p.Met111Leu) rs2233328
NM_006096.3(NDRG1):c.507G>A (p.Ala169=) rs2233331
NM_006096.3(NDRG1):c.755+10T>C rs2233336
NM_006096.3(NDRG1):c.756-5C>T rs2227262
NM_006096.3(NDRG1):c.879G>A (p.Pro293=) rs2233340
NM_006096.3(NDRG1):c.892-5C>T rs2233346
NM_006096.4(NDRG1):c.855+8G>A rs776826543
NM_006096.4(NDRG1):c.906T>G (p.Ala302=) rs572270834
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.1560C>A (p.Thr520=) rs267607677
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_006158.5(NEFL):c.1407G>A (p.Glu469=) rs543609297
NM_006158.5(NEFL):c.1413_1414= (p.Pro471_Ser472=)
NM_006158.5(NEFL):c.1573_1575GAG[2] (p.Glu527del) rs3832558
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_014365.3(HSPB8):c.171C>T (p.Ser57=) rs143010542
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.1584-8T>A rs199522051
NM_014845.5(FIG4):c.173A>G (p.Tyr58Cys) rs145337669
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.627A>G (p.Leu209=) rs140111406
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_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_016156.5(MTMR2):c.1233G>A (p.Thr411=) rs113897932
NM_016156.5(MTMR2):c.130G>A (p.Val44Ile) rs146004831
NM_016156.5(MTMR2):c.1488C>T (p.Thr496=) rs112327353
NM_016156.5(MTMR2):c.1634A>G (p.Asn545Ser) rs558018
NM_016156.5(MTMR2):c.1756C>A (p.Arg586=) rs61735577
NM_016156.5(MTMR2):c.1770+7_1770+12del rs754608173
NM_016156.5(MTMR2):c.1805C>G (p.Ala602Gly) rs76784113
NM_016156.5(MTMR2):c.1855T>C (p.Ser619Pro) rs116750638
NM_016156.5(MTMR2):c.1862G>A (p.Arg621Gln) rs371925152
NM_016156.5(MTMR2):c.240A>C (p.Pro80=) rs201920176
NM_016156.5(MTMR2):c.547G>T (p.Ala183Ser) rs142155860
NM_016156.5(MTMR2):c.8A>C (p.Lys3Thr) rs3824874
NM_016156.6(MTMR2):c.298G>A (p.Ala100Thr) rs370701984
NM_018972.4(GDAP1):c.102= (p.Ser34=)
NM_018972.4(GDAP1):c.102C>G (p.Ser34=) rs7828201
NM_018972.4(GDAP1):c.507T>G (p.Ser169=) rs11554166
NM_018972.4(GDAP1):c.90T>C (p.His30=) rs555369956
NM_020631.5(PLEKHG5):c.1254C>G (p.Pro418=) rs139904931
NM_020631.5(PLEKHG5):c.1724C>T (p.Pro575Leu) rs77134982
NM_020631.5(PLEKHG5):c.1818C>T (p.Phe606=) rs149147021
NM_020631.5(PLEKHG5):c.1896C>T (p.Leu632=) rs61732221
NM_020631.5(PLEKHG5):c.2145_2147GGA[6] (p.Glu722_Glu723del) rs113541584
NM_020631.5(PLEKHG5):c.2319C>T (p.Pro773=) rs80031446
NM_020631.5(PLEKHG5):c.2331C>T (p.Ser777=) rs61749272
NM_020631.5(PLEKHG5):c.2458G>A (p.Gly820Ser) rs202191898
NM_020631.5(PLEKHG5):c.2576G>A (p.Arg859His) rs61737997
NM_020631.5(PLEKHG5):c.2581C>T (p.Arg861Cys) rs148560273
NM_020631.5(PLEKHG5):c.2594A>G (p.Gln865Arg) rs3007419
NM_020631.5(PLEKHG5):c.260T>C (p.Ile87Thr) rs117505788
NM_020631.5(PLEKHG5):c.2751G>A (p.Gln917=) rs370666430
NM_020631.5(PLEKHG5):c.2827G>C (p.Gly943Arg) rs114619322
NM_020631.5(PLEKHG5):c.302+10_302+11delinsTT rs1553175406
NM_020631.5(PLEKHG5):c.30C>T (p.Asp10=) rs114209691
NM_020631.5(PLEKHG5):c.34C>A (p.Pro12Thr) rs140687324
NM_020631.5(PLEKHG5):c.440-10C>T rs201656051
NM_020631.5(PLEKHG5):c.440-6A>G rs202049535
NM_020631.5(PLEKHG5):c.495G>A (p.Lys165=) rs150772386
NM_020631.5(PLEKHG5):c.532G>A (p.Gly178Arg) rs143484278
NM_020631.5(PLEKHG5):c.691G>A (p.Gly231Ser) rs146651455
NM_020631.5(PLEKHG5):c.771C>G (p.Gly257=) rs200400689
NM_020631.5(PLEKHG5):c.795+8G>A rs114275646
NM_020631.5(PLEKHG5):c.87G>A (p.Pro29=) rs140892576
NM_020956.2(PRX):c.*1097C>T rs185112635
NM_020956.2(PRX):c.*1256C>T rs73933276
NM_020956.2(PRX):c.*1421G>A rs117336941
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.*2041C>T rs574899855
NM_020956.2(PRX):c.*2169C>T rs118003416
NM_020956.2(PRX):c.*2222A>G rs61735531
NM_020956.2(PRX):c.*2248C>T rs56743160
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.*2980C>T rs201792838
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.*4007G>C rs146061247
NM_020956.2(PRX):c.*4051G>A rs143289108
NM_020956.2(PRX):c.*4057C>T rs567324732
NM_020956.2(PRX):c.*4249G>C rs76088917
NM_020956.2(PRX):c.*4264_*4266GGA[5] rs139624657
NM_020956.2(PRX):c.*4449_*4451dup rs771234852
NM_020956.2(PRX):c.*676G>A rs4803335
NM_020956.2(PRX):c.*698C>T rs555499679
NM_020956.2(PRX):c.*759G>A rs76756143
NM_020956.2(PRX):c.*936C>T rs118071705
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.1153-10C>T rs149541389
NM_021625.4(TRPV4):c.1284G>A (p.Gly428=) rs150773110
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.2034C>T (p.Ile678=) rs3742037
NM_021625.4(TRPV4):c.2043C>T (p.Gly681=) rs375633647
NM_021625.4(TRPV4):c.2304G>C (p.Ser768=) rs138986228
NM_021625.4(TRPV4):c.2388C>T (p.Asn796=) rs116685089
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.28G>C (p.Ala10Pro) rs376436045
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.670A>C (p.Arg224=) rs3825394
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.854-4G>A rs371733585
NM_021625.4(TRPV4):c.854-5C>T rs116401333
NM_021629.4(GNB4):c.186T>C (p.His62=) rs149798652
NM_021629.4(GNB4):c.243T>C (p.Ile81=) rs200696108
NM_021629.4(GNB4):c.48T>C (p.Asn16=) rs1078749
NM_021629.4(GNB4):c.58-14dup rs112500963
NM_021629.4(GNB4):c.917-4del rs764075662
NM_021629.4(GNB4):c.958G>A (p.Val320Ile) rs61750380
NM_022489.4(INF2):c.1049C>T (p.Pro350Leu) rs146529868
NM_022489.4(INF2):c.1078G>A (p.Val360Ile) rs114820975
NM_022489.4(INF2):c.1144A>G (p.Ser382Gly) rs201077878
NM_022489.4(INF2):c.1372C>T (p.Pro458Ser) rs760986113
NM_022489.4(INF2):c.1451G>A (p.Cys484Tyr) rs201323100
NM_022489.4(INF2):c.1452T>C (p.Cys484=) rs371775604
NM_022489.4(INF2):c.1547C>T (p.Pro516Leu) rs111589086
NM_022489.4(INF2):c.1582C>T (p.Pro528Ser) rs181694819
NM_022489.4(INF2):c.1587C>T (p.Pro529=) rs755649066
NM_022489.4(INF2):c.1732C>T (p.Arg578Cys) rs201593594
NM_022489.4(INF2):c.1755G>A (p.Ala585=) rs375573206
NM_022489.4(INF2):c.1773C>T (p.Asp591=) rs201853087
NM_022489.4(INF2):c.1950-10C>T rs199987321
NM_022489.4(INF2):c.2138+9G>A rs201065953
NM_022489.4(INF2):c.2322C>T (p.Thr774=) rs59751492
NM_022489.4(INF2):c.2433C>T (p.Ser811=) rs140010249
NM_022489.4(INF2):c.2458C>T (p.Arg820Trp) rs79327775
NM_022489.4(INF2):c.2479C>A (p.Gln827Lys) rs4983379
NM_022489.4(INF2):c.2556G>A (p.Arg852=) rs763348932
NM_022489.4(INF2):c.2571C>T (p.Ser857=) rs62640005
NM_022489.4(INF2):c.2625C>G (p.Ala875=) rs377398103
NM_022489.4(INF2):c.2630G>A (p.Arg877Gln) rs142678449
NM_022489.4(INF2):c.264C>T (p.Gly88=) rs201587219
NM_022489.4(INF2):c.2848C>T (p.Arg950Trp) rs199873407
NM_022489.4(INF2):c.2999G>A (p.Ser1000Asn) rs148541427
NM_022489.4(INF2):c.3069C>T (p.Pro1023=) rs75382114
NM_022489.4(INF2):c.3078C>T (p.Ser1026=) rs377023270
NM_022489.4(INF2):c.3108T>C (p.Leu1036=) rs186075307
NM_022489.4(INF2):c.3134G>A (p.Arg1045Gln) rs200369827
NM_022489.4(INF2):c.3153C>T (p.Asp1051=) rs117457867
NM_022489.4(INF2):c.3244G>T (p.Ala1082Ser) rs143540449
NM_022489.4(INF2):c.3404C>T (p.Thr1135Met) rs3803311
NM_022489.4(INF2):c.3478G>A (p.Gly1160Ser) rs9672065
NM_022489.4(INF2):c.3585G>A (p.Glu1195=) rs569502255
NM_022489.4(INF2):c.3612G>A (p.Ser1204=) rs150811244
NM_022489.4(INF2):c.391+6C>T rs75115369
NM_022489.4(INF2):c.42G>A (p.Leu14=) rs62638758
NM_022489.4(INF2):c.507+7G>A rs201568246
NM_022489.4(INF2):c.510G>A (p.Thr170=) rs750711173
NM_022489.4(INF2):c.558C>T (p.Ser186=) rs150714865
NM_022489.4(INF2):c.609C>T (p.Ala203=) rs140017506
NM_022489.4(INF2):c.651G>A (p.Leu217=) rs780516674
NM_022489.4(INF2):c.879G>A (p.Ser293=) rs184709736
NM_024577.3(SH3TC2):c.1177+10G>A rs139257109
NM_024577.3(SH3TC2):c.1194T>C (p.Gly398=) rs1432793
NM_024577.3(SH3TC2):c.1299G>A (p.Ser433=) rs140904010
NM_024577.3(SH3TC2):c.1350G>A (p.Pro450=) rs17722227
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.1443C>T (p.Asp481=) rs146666910
NM_024577.3(SH3TC2):c.1473C>T (p.Phe491=) rs144016931
NM_024577.3(SH3TC2):c.1482C>T (p.Leu494=) rs200665714
NM_024577.3(SH3TC2):c.1587T>G (p.Arg529=) rs1432794
NM_024577.3(SH3TC2):c.1653C>T (p.Phe551=) rs538871220
NM_024577.3(SH3TC2):c.1842C>T (p.Asp614=) rs138411915
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.2868A>G (p.Leu956=) rs115507662
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.3479-8A>G rs147800229
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.3795G>C (p.Leu1265=) rs144873879
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_024577.3(SH3TC2):c.689T>C (p.Val230Ala) rs148634904
NM_024577.3(SH3TC2):c.79A>G (p.Thr27Ala) rs141649676
NM_024577.4(SH3TC2):c.2097G>A (p.Gln699=) rs117860293
NM_024577.4(SH3TC2):c.385+4_385+8del rs148930563
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.2323G>A (p.Gly775Ser) rs141330687
NM_030962.3(SBF2):c.2337C>T (p.Ser779=) rs140730386
NM_030962.3(SBF2):c.2850C>T (p.Ile950=) rs74642088
NM_030962.3(SBF2):c.3036C>T (p.Thr1012=) rs111967328
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.4111G>C (p.Val1371Leu) rs149501654
NM_030962.3(SBF2):c.4533A>G (p.Thr1511=) rs79251068
NM_030962.3(SBF2):c.4571-6C>T rs2645029
NM_030962.3(SBF2):c.4693A>G (p.Ile1565Val) rs115345208
NM_030962.3(SBF2):c.645T>C (p.Phe215=) rs148187321
NM_030962.3(SBF2):c.777G>A (p.Pro259=) rs142261202
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.1044-9T>C rs59501881
NM_138361.5(LRSAM1):c.1131T>A (p.Thr377=) rs141912153
NM_138361.5(LRSAM1):c.1353G>A (p.Ala451=) rs535634291
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.350T>C (p.Met117Thr) rs201772539
NM_138361.5(LRSAM1):c.414G>A (p.Lys138=) rs151323851
NM_138361.5(LRSAM1):c.480C>T (p.Asn160=) rs147205387
NM_138361.5(LRSAM1):c.548C>T (p.Ser183Leu) rs75690855
NM_138361.5(LRSAM1):c.569G>A (p.Arg190Gln) rs142782210
NM_138361.5(LRSAM1):c.751-8C>G rs367823841
NM_138361.5(LRSAM1):c.846C>G (p.Thr282=) rs548270854
NM_138361.5(LRSAM1):c.965A>G (p.Gln322Arg) rs56380300
NM_138773.4(SLC25A46):c.1137G>T (p.Glu379Asp) rs79149180
NM_138773.4(SLC25A46):c.147C>T (p.Ile49=) rs145421520
NM_138773.4(SLC25A46):c.378A>G (p.Gln126=) rs151055603
NM_138773.4(SLC25A46):c.429C>T (p.Val143=) rs35220834
NM_138773.4(SLC25A46):c.563+6A>T rs114546039
NM_138773.4(SLC25A46):c.630C>T (p.Tyr210=) rs201039547
NM_138773.4(SLC25A46):c.678+14dup rs539229853
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.1515T>C (p.Ser505=) rs60803891
NM_139241.3(FGD4):c.1518G>A (p.Ala506=) rs11052110
NM_139241.3(FGD4):c.1543-8T>C rs115061722
NM_139241.3(FGD4):c.1560C>T (p.Ile520=) rs61748364
NM_139241.3(FGD4):c.1636-7T>C rs11052113
NM_139241.3(FGD4):c.1659C>G (p.Ala553=) rs188104446
NM_139241.3(FGD4):c.374C>T (p.Thr125Met) rs200732890
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.885C>T (p.Phe295=) rs151083690
NM_139241.3(FGD4):c.993+8G>A rs12823621
NM_181882.3(PRX):c.1539G>A (p.Pro513=) rs187786861
NM_181882.3(PRX):c.4059_4061GGA[6] (p.Glu1361del) rs139624657
NM_181882.3(PRX):c.944G>A (p.Arg315Gln) rs577197549

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