ClinVar Miner

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

Included ClinVar conditions (59):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 363
Download table as spreadsheet
HGVS dbSNP
NM_000263.4(NAGLU):c.9_14GGTGGC[3] (p.4_5VA[3]) rs1024697806
NM_001005360.2(DNM2):c.1095C>A (p.Ile365=) rs746959606
NM_001005360.2(DNM2):c.1101C>T (p.His367=) rs768651920
NM_001005360.2(DNM2):c.1377C>T (p.Ile459=) rs369345296
NM_001005360.2(DNM2):c.1422+9C>T rs199952853
NM_001005360.2(DNM2):c.1512G>A (p.Thr504=) rs767407905
NM_001005360.2(DNM2):c.162-6del rs766449694
NM_001005360.2(DNM2):c.1716C>A (p.Ile572=) rs776999450
NM_001005360.2(DNM2):c.177C>T (p.Arg59=) rs762795230
NM_001005360.2(DNM2):c.1782-4G>A rs767424969
NM_001005360.2(DNM2):c.1837G>A (p.Val613Met) rs748286191
NM_001005360.2(DNM2):c.210T>C (p.Ile70=) rs878854149
NM_001005360.2(DNM2):c.2136G>T (p.Ser712=) rs1555716924
NM_001005360.2(DNM2):c.216G>A (p.Gln72=) rs368075301
NM_001005360.2(DNM2):c.2313G>A (p.Pro771=) rs147463138
NM_001005360.2(DNM2):c.238C>T (p.His80Tyr) rs148790687
NM_001005360.2(DNM2):c.2418G>A (p.Ala806=) rs200968756
NM_001005360.2(DNM2):c.2562G>A (p.Ala854=) rs761141093
NM_001005360.2(DNM2):c.2592C>T (p.Ala864=) rs373161548
NM_001005360.2(DNM2):c.316G>A (p.Asp106Asn) rs375151459
NM_001005360.2(DNM2):c.33G>A (p.Pro11=) rs779502758
NM_001005360.2(DNM2):c.480C>T (p.Ile160=) rs140036663
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.633C>T (p.Asp211=) rs200191870
NM_001005360.2(DNM2):c.648C>T (p.Ala216=) rs1060504950
NM_001005360.2(DNM2):c.750A>G (p.Ala250=) rs202214529
NM_001005360.2(DNM2):c.81C>T (p.Cys27=) rs534605878
NM_001005360.2(DNM2):c.822G>A (p.Thr274=) rs201763720
NM_001005360.2(DNM2):c.882G>A (p.Pro294=) rs144790170
NM_001005360.2(DNM2):c.90C>T (p.Asp30=) rs759919549
NM_001303256.3(MORC2):c.1308C>T (p.Tyr436=) rs768240412
NM_001303256.3(MORC2):c.1768C>T (p.Leu590=) rs146972491
NM_001303256.3(MORC2):c.1929G>A (p.Lys643=) rs1555937681
NM_001303256.3(MORC2):c.2044G>A (p.Val682Ile) rs144493873
NM_001303256.3(MORC2):c.2319G>A (p.Ser773=) rs377574758
NM_001303256.3(MORC2):c.2381-7T>C rs754758325
NM_001303256.3(MORC2):c.2667C>T (p.Ser889=) rs565441094
NM_001303256.3(MORC2):c.2724C>T (p.Ile908=) rs147997704
NM_001303256.3(MORC2):c.276T>C (p.Pro92=) rs142640132
NM_001303256.3(MORC2):c.2949C>T (p.Ser983=) rs372404658
NM_001303256.3(MORC2):c.300C>T (p.Tyr100=) rs777775099
NM_001303256.3(MORC2):c.3015G>C (p.Leu1005=) rs765411579
NM_001303256.3(MORC2):c.3063C>T (p.Asp1021=) rs138812699
NM_001303256.3(MORC2):c.3081C>A (p.Leu1027=) rs149110760
NM_001303256.3(MORC2):c.399G>A (p.Thr133=) rs141171446
NM_001303256.3(MORC2):c.427-4A>G rs749183153
NM_001303256.3(MORC2):c.732C>T (p.Ala244=) rs371351399
NM_001303256.3(MORC2):c.774T>C (p.His258=) rs747931761
NM_001303256.3(MORC2):c.870G>A (p.Gln290=) rs766060409
NM_001303256.3(MORC2):c.927A>G (p.Ala309=) rs1291021388
NM_001376.5(DYNC1H1):c.10131C>T (p.Tyr3377=) rs1555411373
NM_001376.5(DYNC1H1):c.10198-4C>A rs1555411389
NM_001376.5(DYNC1H1):c.10212C>T (p.Asp3404=) rs371853975
NM_001376.5(DYNC1H1):c.10356C>T (p.Ala3452=) rs758827732
NM_001376.5(DYNC1H1):c.10473A>G (p.Lys3491=) rs201109134
NM_001376.5(DYNC1H1):c.10506C>A (p.Thr3502=) rs548760128
NM_001376.5(DYNC1H1):c.10536G>A (p.Ala3512=) rs1060504512
NM_001376.5(DYNC1H1):c.10650G>A (p.Thr3550=) rs143068719
NM_001376.5(DYNC1H1):c.10908+10G>A rs201277756
NM_001376.5(DYNC1H1):c.11046G>A (p.Arg3682=) rs370397467
NM_001376.5(DYNC1H1):c.11388C>T (p.Thr3796=) rs149806996
NM_001376.5(DYNC1H1):c.11461-9_11461-8insG rs762712158
NM_001376.5(DYNC1H1):c.11497C>T (p.Leu3833=) rs200735835
NM_001376.5(DYNC1H1):c.11532G>A (p.Pro3844=) rs372511563
NM_001376.5(DYNC1H1):c.11565C>T (p.Arg3855=) rs1555411851
NM_001376.5(DYNC1H1):c.11596-7G>A rs375593873
NM_001376.5(DYNC1H1):c.11691-10C>T rs771362494
NM_001376.5(DYNC1H1):c.1173A>G (p.Gln391=) rs17540735
NM_001376.5(DYNC1H1):c.1179C>A (p.Leu393=) rs780971776
NM_001376.5(DYNC1H1):c.11802G>C (p.Ala3934=) rs151307859
NM_001376.5(DYNC1H1):c.12075C>T (p.Leu4025=) rs373636519
NM_001376.5(DYNC1H1):c.12103-9T>C rs939623360
NM_001376.5(DYNC1H1):c.12117T>C (p.Thr4039=) rs368830742
NM_001376.5(DYNC1H1):c.12156T>C (p.Ser4052=) rs1060504511
NM_001376.5(DYNC1H1):c.12180C>T (p.Ala4060=) rs754694929
NM_001376.5(DYNC1H1):c.12264A>C (p.Val4088=) rs1041126638
NM_001376.5(DYNC1H1):c.12270G>A (p.Ser4090=) rs549895432
NM_001376.5(DYNC1H1):c.12276-5T>C rs1555412076
NM_001376.5(DYNC1H1):c.12345C>T (p.Ser4115=) rs774128776
NM_001376.5(DYNC1H1):c.123G>A (p.Leu41=) rs1260546515
NM_001376.5(DYNC1H1):c.12441C>T (p.Phe4147=) rs146075696
NM_001376.5(DYNC1H1):c.12450G>A (p.Pro4150=) rs749647281
NM_001376.5(DYNC1H1):c.12519C>T (p.Pro4173=) rs1489755183
NM_001376.5(DYNC1H1):c.12580T>C (p.Leu4194=) rs753248251
NM_001376.5(DYNC1H1):c.12663G>A (p.Thr4221=) rs145849008
NM_001376.5(DYNC1H1):c.1266T>C (p.Thr422=) rs1288014241
NM_001376.5(DYNC1H1):c.12685-3C>T rs149824412
NM_001376.5(DYNC1H1):c.12705G>A (p.Pro4235=) rs199792795
NM_001376.5(DYNC1H1):c.12765C>T (p.Arg4255=) rs780271275
NM_001376.5(DYNC1H1):c.12849G>A (p.Lys4283=) rs751398567
NM_001376.5(DYNC1H1):c.13059C>T (p.Asp4353=) rs773232010
NM_001376.5(DYNC1H1):c.13107G>A (p.Thr4369=) rs369577172
NM_001376.5(DYNC1H1):c.13113C>T (p.Asp4371=) rs372518648
NM_001376.5(DYNC1H1):c.13149C>T (p.Thr4383=) rs375767483
NM_001376.5(DYNC1H1):c.13176C>T (p.Pro4392=) rs766805479
NM_001376.5(DYNC1H1):c.13181C>T (p.Thr4394Met) rs149300055
NM_001376.5(DYNC1H1):c.13192C>T (p.Leu4398Phe) rs144570049
NM_001376.5(DYNC1H1):c.13203C>A (p.Thr4401=) rs138022242
NM_001376.5(DYNC1H1):c.13315G>A (p.Glu4439Lys) rs142883042
NM_001376.5(DYNC1H1):c.13359C>T (p.Asn4453=) rs140033479
NM_001376.5(DYNC1H1):c.13515+8C>T rs200901713
NM_001376.5(DYNC1H1):c.13557G>A (p.Ala4519=) rs35546990
NM_001376.5(DYNC1H1):c.13782G>A (p.Lys4594=) rs147580834
NM_001376.5(DYNC1H1):c.13794C>T (p.Thr4598=) rs765791872
NM_001376.5(DYNC1H1):c.13808G>T (p.Ser4603Ile) rs200731839
NM_001376.5(DYNC1H1):c.13887G>A (p.Lys4629=) rs141961494
NM_001376.5(DYNC1H1):c.1410A>G (p.Arg470=) rs1060504508
NM_001376.5(DYNC1H1):c.1479A>G (p.Gln493=) rs761306770
NM_001376.5(DYNC1H1):c.1704T>C (p.Leu568=) rs192959810
NM_001376.5(DYNC1H1):c.1911C>T (p.His637=) rs376398498
NM_001376.5(DYNC1H1):c.1929T>C (p.Pro643=) rs1555408339
NM_001376.5(DYNC1H1):c.2040G>A (p.Gln680=) rs1555408347
NM_001376.5(DYNC1H1):c.2115G>A (p.Lys705=) rs1555408353
NM_001376.5(DYNC1H1):c.213C>T (p.Asp71=) rs763561186
NM_001376.5(DYNC1H1):c.2160C>T (p.Ile720=) rs763236829
NM_001376.5(DYNC1H1):c.2175T>C (p.Val725=) rs757752556
NM_001376.5(DYNC1H1):c.2211T>A (p.Val737=) rs149902566
NM_001376.5(DYNC1H1):c.2376C>T (p.Cys792=) rs35092963
NM_001376.5(DYNC1H1):c.2539-9T>C rs750362256
NM_001376.5(DYNC1H1):c.261C>T (p.Asp87=) rs75113705
NM_001376.5(DYNC1H1):c.2652A>G (p.Ala884=) rs762508534
NM_001376.5(DYNC1H1):c.2719-9_2719-7del rs566271356
NM_001376.5(DYNC1H1):c.2922A>G (p.Pro974=) rs963837216
NM_001376.5(DYNC1H1):c.3096C>G (p.Ala1032=) rs1060504507
NM_001376.5(DYNC1H1):c.3249G>A (p.Leu1083=) rs767157510
NM_001376.5(DYNC1H1):c.3414C>T (p.Asn1138=) rs772761222
NM_001376.5(DYNC1H1):c.345-4T>G rs1060504510
NM_001376.5(DYNC1H1):c.3480G>A (p.Thr1160=) rs776275624
NM_001376.5(DYNC1H1):c.3642C>T (p.Ile1214=) rs778273904
NM_001376.5(DYNC1H1):c.3804+9C>T rs377635872
NM_001376.5(DYNC1H1):c.3909G>T (p.Ala1303=) rs34690489
NM_001376.5(DYNC1H1):c.4075-5G>A rs750127672
NM_001376.5(DYNC1H1):c.4095C>G (p.Ala1365=) rs753684857
NM_001376.5(DYNC1H1):c.409G>A (p.Val137Ile) rs143421325
NM_001376.5(DYNC1H1):c.4176T>C (p.Gly1392=) rs112261870
NM_001376.5(DYNC1H1):c.4296C>G (p.Gly1432=) rs150374820
NM_001376.5(DYNC1H1):c.432G>A (p.Ser144=) rs533327200
NM_001376.5(DYNC1H1):c.4341G>A (p.Lys1447=) rs780278262
NM_001376.5(DYNC1H1):c.4428C>T (p.Asp1476=) rs756763142
NM_001376.5(DYNC1H1):c.4543-7C>T rs1555409395
NM_001376.5(DYNC1H1):c.457A>G (p.Ile153Val) rs140905741
NM_001376.5(DYNC1H1):c.4732C>T (p.Leu1578=) rs143297786
NM_001376.5(DYNC1H1):c.4749C>T (p.Ser1583=) rs374033335
NM_001376.5(DYNC1H1):c.501G>A (p.Glu167=) rs1555407893
NM_001376.5(DYNC1H1):c.5238+7T>C rs746205822
NM_001376.5(DYNC1H1):c.5316T>C (p.Gly1772=) rs761933814
NM_001376.5(DYNC1H1):c.546T>G (p.Val182=) rs762857766
NM_001376.5(DYNC1H1):c.5700G>A (p.Leu1900=) rs552313071
NM_001376.5(DYNC1H1):c.5721T>G (p.Pro1907=) rs1555409674
NM_001376.5(DYNC1H1):c.5907G>T (p.Ser1969=) rs758999145
NM_001376.5(DYNC1H1):c.6267T>A (p.Gly2089=) rs374997831
NM_001376.5(DYNC1H1):c.6381T>C (p.Ile2127=) rs759525537
NM_001376.5(DYNC1H1):c.6399A>G (p.Glu2133=) rs769782375
NM_001376.5(DYNC1H1):c.6406-4G>A rs374602014
NM_001376.5(DYNC1H1):c.6406-4G>C rs374602014
NM_001376.5(DYNC1H1):c.6535C>A (p.Arg2179=) rs147905977
NM_001376.5(DYNC1H1):c.657G>A (p.Gln219=) rs374440380
NM_001376.5(DYNC1H1):c.6795C>T (p.Tyr2265=) rs200339812
NM_001376.5(DYNC1H1):c.6857+10_6857+12del rs773209855
NM_001376.5(DYNC1H1):c.6870C>T (p.Ser2290=) rs768991876
NM_001376.5(DYNC1H1):c.6909C>T (p.Phe2303=) rs138326082
NM_001376.5(DYNC1H1):c.6981G>A (p.Leu2327=) rs1555410008
NM_001376.5(DYNC1H1):c.7224C>T (p.Ala2408=) rs587780330
NM_001376.5(DYNC1H1):c.7275G>A (p.Pro2425=) rs141665695
NM_001376.5(DYNC1H1):c.7284G>A (p.Thr2428=) rs762065704
NM_001376.5(DYNC1H1):c.7317C>T (p.His2439=) rs200197781
NM_001376.5(DYNC1H1):c.7566G>A (p.Thr2522=) rs747067301
NM_001376.5(DYNC1H1):c.78C>T (p.Asp26=) rs760083766
NM_001376.5(DYNC1H1):c.8145C>T (p.Pro2715=) rs200413541
NM_001376.5(DYNC1H1):c.8178-8G>C rs758234041
NM_001376.5(DYNC1H1):c.8202G>A (p.Val2734=) rs202023896
NM_001376.5(DYNC1H1):c.8401A>C (p.Arg2801=) rs771269792
NM_001376.5(DYNC1H1):c.8427G>A (p.Ala2809=) rs534435923
NM_001376.5(DYNC1H1):c.8478A>G (p.Ala2826=) rs117846737
NM_001376.5(DYNC1H1):c.8502A>G (p.Gln2834=) rs146220233
NM_001376.5(DYNC1H1):c.8547C>T (p.Asn2849=) rs149526821
NM_001376.5(DYNC1H1):c.8551G>A (p.Asp2851Asn) rs780522040
NM_001376.5(DYNC1H1):c.8637+9C>T rs202042156
NM_001376.5(DYNC1H1):c.8638-7T>C rs201446705
NM_001376.5(DYNC1H1):c.8754C>T (p.His2918=) rs758989267
NM_001376.5(DYNC1H1):c.8772-7G>A rs758936427
NM_001376.5(DYNC1H1):c.8784A>G (p.Gln2928=) rs149753029
NM_001376.5(DYNC1H1):c.8862C>T (p.Asn2954=) rs755723273
NM_001376.5(DYNC1H1):c.9093G>A (p.Thr3031=) rs145208135
NM_001376.5(DYNC1H1):c.9108G>A (p.Gly3036=) rs1555410937
NM_001376.5(DYNC1H1):c.9171G>A (p.Gln3057=) rs201041097
NM_001376.5(DYNC1H1):c.9180C>T (p.Arg3060=) rs1555410949
NM_001376.5(DYNC1H1):c.9210G>A (p.Pro3070=) rs201817995
NM_001376.5(DYNC1H1):c.9249A>G (p.Pro3083=) rs1555410963
NM_001376.5(DYNC1H1):c.9304C>T (p.Leu3102=) rs1060504513
NM_001376.5(DYNC1H1):c.9324A>G (p.Glu3108=) rs142338762
NM_001376.5(DYNC1H1):c.9402G>A (p.Pro3134=) rs145095254
NM_001376.5(DYNC1H1):c.9564C>T (p.His3188=) rs202053613
NM_001376.5(DYNC1H1):c.9573G>A (p.Arg3191=) rs1555411131
NM_001540.5(HSPB1):c.204G>C (p.Val68=) rs1554614462
NM_001540.5(HSPB1):c.243C>T (p.Leu81=) rs1478776061
NM_001540.5(HSPB1):c.24C>T (p.Phe8=) rs201769668
NM_001540.5(HSPB1):c.318G>C (p.Pro106=) rs750349055
NM_001540.5(HSPB1):c.365-5C>T rs368936457
NM_001540.5(HSPB1):c.365-7C>G rs201897299
NM_001540.5(HSPB1):c.429-7C>T rs375972376
NM_001540.5(HSPB1):c.80G>C (p.Arg27Pro) rs367662394
NM_001540.5(HSPB1):c.99C>T (p.Phe33=) rs762032846
NM_001605.2(AARS1):c.1685C>T (p.Thr562Ile) rs148355156
NM_001605.2(AARS1):c.2521-3C>T rs200586605
NM_001605.2(AARS1):c.2791G>A (p.Gly931Ser) rs149377346
NM_001605.2(AARS1):c.2900A>T (p.Lys967Met) rs35744709
NM_002180.2(IGHMBP2):c.1060+10C>T rs200170825
NM_002180.2(IGHMBP2):c.1060+8G>T rs201147313
NM_002180.2(IGHMBP2):c.1064C>T (p.Ala355Val) rs142062146
NM_002180.2(IGHMBP2):c.1125C>T (p.Asp375=) rs140296831
NM_002180.2(IGHMBP2):c.1143C>T (p.Leu381=) rs145314949
NM_002180.2(IGHMBP2):c.1197C>T (p.Gly399=) rs377631839
NM_002180.2(IGHMBP2):c.1236-6G>A rs201538340
NM_002180.2(IGHMBP2):c.1236-6G>C rs201538340
NM_002180.2(IGHMBP2):c.1290C>T (p.Tyr430=) rs140654955
NM_002180.2(IGHMBP2):c.1515C>T (p.Asp505=) rs538496164
NM_002180.2(IGHMBP2):c.1596C>T (p.Ala532=) rs988590959
NM_002180.2(IGHMBP2):c.1603A>G (p.Ile535Val) rs140221316
NM_002180.2(IGHMBP2):c.1669C>G (p.Pro557Ala) rs7122089
NM_002180.2(IGHMBP2):c.1737C>T (p.Phe579=) rs368775789
NM_002180.2(IGHMBP2):c.1848T>C (p.Thr616=) rs1164401206
NM_002180.2(IGHMBP2):c.1932C>T (p.Asp644=) rs769397483
NM_002180.2(IGHMBP2):c.1938T>C (p.Ile646=) rs1555247978
NM_002180.2(IGHMBP2):c.1998C>T (p.Pro666=) rs1308205831
NM_002180.2(IGHMBP2):c.2157A>G (p.Gly719=) rs774145467
NM_002180.2(IGHMBP2):c.222C>T (p.Ser74=) rs139237340
NM_002180.2(IGHMBP2):c.2286C>T (p.Ala762=) rs149684358
NM_002180.2(IGHMBP2):c.2355G>A (p.Arg785=) rs147954772
NM_002180.2(IGHMBP2):c.2360C>T (p.Pro787Leu) rs141594765
NM_002180.2(IGHMBP2):c.2467C>T (p.Arg823Cys) rs192806153
NM_002180.2(IGHMBP2):c.2499G>A (p.Leu833=) rs371840404
NM_002180.2(IGHMBP2):c.2532G>T (p.Ala844=) rs2228207
NM_002180.2(IGHMBP2):c.2611+7C>T rs1343219004
NM_002180.2(IGHMBP2):c.2674A>G (p.Lys892Glu) rs201970407
NM_002180.2(IGHMBP2):c.2691C>T (p.Cys897=) rs146286133
NM_002180.2(IGHMBP2):c.2715C>T (p.Gly905=) rs779293148
NM_002180.2(IGHMBP2):c.2836C>T (p.Arg946Trp) rs373943338
NM_002180.2(IGHMBP2):c.2922T>G (p.Asp974Glu) rs147674615
NM_002180.2(IGHMBP2):c.2976G>A (p.Gly992=) rs755792559
NM_002180.2(IGHMBP2):c.304G>T (p.Ala102Ser) rs35610053
NM_002180.2(IGHMBP2):c.639T>C (p.His213=) rs764495455
NM_002180.2(IGHMBP2):c.711+8G>A rs1403938196
NM_002180.2(IGHMBP2):c.954T>C (p.Asn318=) rs1482496537
NM_004637.5(RAB7A):c.180+9A>G rs762831187
NM_004637.5(RAB7A):c.213G>A (p.Gln71=) rs140299645
NM_004637.5(RAB7A):c.21G>A (p.Val7=) rs140857794
NM_004637.5(RAB7A):c.321C>T (p.Leu107=) rs749227632
NM_004637.5(RAB7A):c.414G>T (p.Arg138=) rs754928233
NM_004990.4(MARS1):c.1095C>T (p.Ile365=) rs1555167079
NM_004990.4(MARS1):c.132C>T (p.Thr44=) rs1555165361
NM_004990.4(MARS1):c.1369-7A>C rs377050640
NM_004990.4(MARS1):c.144C>A (p.Val48=) rs1018358556
NM_004990.4(MARS1):c.1754-4C>A rs377361080
NM_004990.4(MARS1):c.2163G>C (p.Val721=) rs762587995
NM_004990.4(MARS1):c.2256C>G (p.Leu752=) rs201540140
NM_004990.4(MARS1):c.2511C>G (p.Ala837=) rs780483586
NM_004990.4(MARS1):c.2610T>C (p.Ala870=) rs769627922
NM_004990.4(MARS1):c.2613G>A (p.Ala871=) rs373439522
NM_004990.4(MARS1):c.414+9G>C rs375026310
NM_004990.4(MARS1):c.42G>T (p.Pro14=) rs144002827
NM_004990.4(MARS1):c.663+8A>C rs199843552
NM_004990.4(MARS1):c.66C>T (p.Ala22=) rs200471304
NM_004990.4(MARS1):c.747G>A (p.Pro249=) rs200490364
NM_004990.4(MARS1):c.792G>A (p.Arg264=) rs141609469
NM_004990.4(MARS1):c.831T>C (p.Asn277=) rs367995771
NM_004990.4(MARS1):c.915C>T (p.Thr305=) rs199641659
NM_006158.4(NEFL):c.1006C>G (p.Leu336Val) rs551896980
NM_006158.4(NEFL):c.1402G>A (p.Asp468Asn) rs57153321
NM_006158.4(NEFL):c.1458C>T (p.Ala486=) rs61726486
NM_006158.4(NEFL):c.1560C>A (p.Thr520=) rs267607677
NM_006158.4(NEFL):c.207G>A (p.Glu69=) rs367732440
NM_006158.4(NEFL):c.321C>G (p.Arg107=) rs1198042093
NM_006158.4(NEFL):c.338_339delinsCC (p.Gln113Pro) rs1554497641
NM_006158.4(NEFL):c.352C>T (p.Leu118=) rs1254381816
NM_006158.4(NEFL):c.423G>A (p.Gln141=) rs59161567
NM_006158.4(NEFL):c.584C>T (p.Ala195Val) rs185200977
NM_006158.4(NEFL):c.621C>G (p.Ala207=) rs763294014
NM_006158.4(NEFL):c.639C>G (p.Ile213Met) rs62636522
NM_006158.4(NEFL):c.780C>T (p.Asp260=) rs878854817
NM_006158.4(NEFL):c.78_81delinsTTCT (p.Ile26_Ser27=) rs1060504999
NM_006158.4(NEFL):c.984G>T (p.Ala328=) rs759524661
NM_014365.2(HSPB8):c.210C>T (p.Pro70=) rs1211866770
NM_014365.2(HSPB8):c.233G>T (p.Arg78Met) rs55826713
NM_014365.2(HSPB8):c.432-10T>A rs368810689
NM_014365.2(HSPB8):c.499G>A (p.Glu167Lys) rs148514935
NM_014365.2(HSPB8):c.503C>T (p.Ala168Val) rs373049356
NM_014365.2(HSPB8):c.553G>A (p.Glu185Lys) rs774648716
NM_015271.5(TRIM2):c.1143C>T (p.Asp381=) rs116472166
NM_015271.5(TRIM2):c.1206C>T (p.Ser402=) rs770558554
NM_015271.5(TRIM2):c.122G>A (p.Arg41His) rs146705057
NM_015271.5(TRIM2):c.1368C>T (p.Pro456=) rs1295920622
NM_015271.5(TRIM2):c.153T>C (p.Ser51=) rs764154708
NM_015271.5(TRIM2):c.1615-7C>G rs201299149
NM_015271.5(TRIM2):c.1740T>C (p.Asp580=) rs756285274
NM_015271.5(TRIM2):c.1767C>T (p.Ser589=) rs767007696
NM_015271.5(TRIM2):c.189C>T (p.Leu63=) rs558845725
NM_015271.5(TRIM2):c.2169T>C (p.Phe723=) rs148412849
NM_015271.5(TRIM2):c.220C>T (p.Leu74=) rs12644835
NM_015271.5(TRIM2):c.444C>T (p.His148=) rs771241708
NM_015271.5(TRIM2):c.786+10G>A rs1268924136
NM_015271.5(TRIM2):c.816C>T (p.Leu272=) rs149607572
NM_015271.5(TRIM2):c.858G>A (p.Ala286=) rs770000289
NM_015271.5(TRIM2):c.927C>T (p.Asn309=) rs142242737
NM_015271.5(TRIM2):c.969C>T (p.Asn323=) rs116365246
NM_021625.4(TRPV4):c.1062C>T (p.Ala354=) rs115446386
NM_021625.4(TRPV4):c.1074C>T (p.Pro358=) rs140040335
NM_021625.4(TRPV4):c.1152+10C>T rs766655934
NM_021625.4(TRPV4):c.1398C>T (p.Phe466=) rs146929022
NM_021625.4(TRPV4):c.1449C>G (p.Val483=) rs1060504550
NM_021625.4(TRPV4):c.1464C>T (p.Thr488=) rs146841400
NM_021625.4(TRPV4):c.1479G>T (p.Pro493=) rs1337838267
NM_021625.4(TRPV4):c.1491+10C>T rs201815805
NM_021625.4(TRPV4):c.152C>T (p.Pro51Leu) rs115861965
NM_021625.4(TRPV4):c.1546A>G (p.Ile516Val) rs115976458
NM_021625.4(TRPV4):c.1566C>G (p.Val522=) rs765724064
NM_021625.4(TRPV4):c.1584+1G>A rs775922797
NM_021625.4(TRPV4):c.1611C>T (p.Cys537=) rs1407714132
NM_021625.4(TRPV4):c.1899C>T (p.Val633=) rs753027239
NM_021625.4(TRPV4):c.2151C>A (p.Leu717=) rs1555205372
NM_021625.4(TRPV4):c.2244C>T (p.Phe748=) rs1340974810
NM_021625.4(TRPV4):c.2248G>A (p.Val750Ile) rs148171058
NM_021625.4(TRPV4):c.2295C>G (p.Gly765=) rs753038628
NM_021625.4(TRPV4):c.2304G>A (p.Ser768=) rs138986228
NM_021625.4(TRPV4):c.2472G>A (p.Ser824=) rs149988106
NM_021625.4(TRPV4):c.2508G>A (p.Ser836=) rs201884175
NM_021625.4(TRPV4):c.300G>A (p.Lys100=) rs370135765
NM_021625.4(TRPV4):c.336C>A (p.Thr112=) rs969086736
NM_021625.4(TRPV4):c.387-6C>T rs775634013
NM_021625.4(TRPV4):c.501C>T (p.Asp167=) rs77680510
NM_021625.4(TRPV4):c.712+10C>T rs115657305
NM_021625.4(TRPV4):c.760G>A (p.Val254Met) rs143548402
NM_021625.4(TRPV4):c.769C>G (p.Leu257Val) rs56217500
NM_021625.4(TRPV4):c.903C>G (p.Val301=) rs748103823
NM_138361.5(LRSAM1):c.1026_1027delinsTT (p.Leu342_Leu343=) rs1554757292
NM_138361.5(LRSAM1):c.1225C>G (p.Gln409Glu) rs149540339
NM_138361.5(LRSAM1):c.1236C>T (p.Asn412=) rs186139632
NM_138361.5(LRSAM1):c.1329C>T (p.Ile443=) rs771415278
NM_138361.5(LRSAM1):c.1602G>A (p.Thr534=) rs766032321
NM_138361.5(LRSAM1):c.1632G>A (p.Gln544=) rs762712712
NM_138361.5(LRSAM1):c.1772C>T (p.Ala591Val) rs139344911
NM_138361.5(LRSAM1):c.1836C>T (p.Gly612=) rs577254396
NM_138361.5(LRSAM1):c.192G>A (p.Thr64=) rs778625125
NM_138361.5(LRSAM1):c.1941C>T (p.Val647=) rs1000632610
NM_138361.5(LRSAM1):c.1950G>A (p.Thr650=) rs199887448
NM_138361.5(LRSAM1):c.1980G>A (p.Arg660=) rs147805183
NM_138361.5(LRSAM1):c.2028C>T (p.Val676=) rs566890772
NM_138361.5(LRSAM1):c.2094G>A (p.Gln698=) rs752678501
NM_138361.5(LRSAM1):c.2111G>A (p.Arg704His) rs140808447
NM_138361.5(LRSAM1):c.2139C>T (p.Ile713=) rs373990000
NM_138361.5(LRSAM1):c.267C>T (p.His89=) rs148528063
NM_138361.5(LRSAM1):c.268G>A (p.Asp90Asn) rs117692127
NM_138361.5(LRSAM1):c.284C>T (p.Ala95Val) rs570248730
NM_138361.5(LRSAM1):c.469A>G (p.Ile157Val) rs150292099
NM_138361.5(LRSAM1):c.498G>A (p.Pro166=) rs140809697
NM_138361.5(LRSAM1):c.513C>T (p.His171=) rs757426906
NM_138361.5(LRSAM1):c.529-6C>T rs754162095
NM_138361.5(LRSAM1):c.567G>A (p.Pro189=) rs761890031
NM_138361.5(LRSAM1):c.570G>A (p.Arg190=) rs545814024
NM_138361.5(LRSAM1):c.783A>G (p.Glu261=) rs1344070586
NM_138361.5(LRSAM1):c.840G>A (p.Glu280=) rs199947399
NM_138361.5(LRSAM1):c.894G>A (p.Thr298=) rs771491533

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