ClinVar Miner

List of variants reported as likely 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: 362
Download table as spreadsheet
HGVS dbSNP
NM_000166.6(GJB1):c.235C>T (p.Leu79=) rs144717157
NM_000166.6(GJB1):c.704T>G (p.Phe235Cys) rs104894825
NM_000304.4(PMP22):c.*105_*109CAAAC[2] rs112829799
NM_000304.4(PMP22):c.*1111G>T rs7415
NM_000304.4(PMP22):c.*1120T>C rs11654383
NM_000304.4(PMP22):c.*228G>A rs1804193
NM_000304.4(PMP22):c.*26T>C rs200563670
NM_000304.4(PMP22):c.*525_*526CT[1] rs71699667
NM_000304.4(PMP22):c.*577T>C rs7538
NM_000304.4(PMP22):c.*828G>A rs13027
NM_000304.4(PMP22):c.-141C>G rs560442424
NM_000304.4(PMP22):c.353C>T (p.Thr118Met) rs104894619
NM_000399.5(EGR2):c.-1A>G rs553201646
NM_000399.5(EGR2):c.1352G>T (p.Gly451Val) rs138967272
NM_000399.5(EGR2):c.174C>T (p.Gly58=) rs143793213
NM_000399.5(EGR2):c.192G>C (p.Met64Ile) rs146631014
NM_000399.5(EGR2):c.246C>G (p.Val82=) rs144217451
NM_000399.5(EGR2):c.457A>C (p.Thr153Pro) rs202183386
NM_000399.5(EGR2):c.644C>T (p.Thr215Met) rs139147487
NM_000530.8(MPZ):c.*1048A>T rs71639057
NM_000530.8(MPZ):c.*195G>T rs150182811
NM_000530.8(MPZ):c.*52G>A rs774701563
NM_000530.8(MPZ):c.*568C>G rs60731755
NM_000530.8(MPZ):c.*743C>T rs140992541
NM_000530.8(MPZ):c.-49C>A rs750777955
NM_000530.8(MPZ):c.504G>A (p.Val168=) rs145592910
NM_000530.8(MPZ):c.637G>C (p.Gly213Arg) rs202176679
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.1773G>A (p.Thr591=) rs201604679
NM_001005360.2(DNM2):c.2031G>A (p.Lys677=) rs768285660
NM_001005360.2(DNM2):c.750A>G (p.Ala250=) rs202214529
NM_001136473.1(LITAF):c.*1978A>G rs759832566
NM_001136473.1(LITAF):c.147G>A (p.Thr49=) rs145659732
NM_001136473.1(LITAF):c.241G>A (p.Val81Met) rs201653834
NM_001136473.1(LITAF):c.377+13C>G rs200357430
NM_001136473.1(LITAF):c.44C>T (p.Ser15Leu) rs138041990
NM_001136473.1(LITAF):c.6G>A (p.Ser2=) rs147187481
NM_001243571.2(MTMR2):c.354+11T>C rs182582445
NM_001376.5(DYNC1H1):c.-13C>G rs537857759
NM_001376.5(DYNC1H1):c.10065T>C (p.Ser3355=) rs80096622
NM_001376.5(DYNC1H1):c.10440G>A (p.Lys3480=) rs138887857
NM_001376.5(DYNC1H1):c.10506C>A (p.Thr3502=) rs548760128
NM_001376.5(DYNC1H1):c.10908+10G>A rs201277756
NM_001376.5(DYNC1H1):c.10941G>A (p.Pro3647=) rs374214760
NM_001376.5(DYNC1H1):c.10992C>T (p.Leu3664=) rs368621706
NM_001376.5(DYNC1H1):c.11460+12G>A rs17512790
NM_001376.5(DYNC1H1):c.11497C>T (p.Leu3833=) rs200735835
NM_001376.5(DYNC1H1):c.11596-7G>A rs375593873
NM_001376.5(DYNC1H1):c.11942C>G (p.Thr3981Arg) rs138428684
NM_001376.5(DYNC1H1):c.12075C>T (p.Leu4025=) rs373636519
NM_001376.5(DYNC1H1):c.12258C>T (p.Thr4086=) rs141242095
NM_001376.5(DYNC1H1):c.12354G>T (p.Pro4118=)
NM_001376.5(DYNC1H1):c.12759C>T (p.Gly4253=) rs529010293
NM_001376.5(DYNC1H1):c.13088A>C (p.Lys4363Thr) rs141925609
NM_001376.5(DYNC1H1):c.13149C>T (p.Thr4383=) rs375767483
NM_001376.5(DYNC1H1):c.13151C>T (p.Ala4384Val)
NM_001376.5(DYNC1H1):c.13203C>T (p.Thr4401=) rs138022242
NM_001376.5(DYNC1H1):c.13359C>T (p.Asn4453=) rs140033479
NM_001376.5(DYNC1H1):c.13440C>T (p.Ser4480=) rs150286673
NM_001376.5(DYNC1H1):c.13675G>A (p.Gly4559Arg) rs761881469
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.1704T>C (p.Leu568=) rs192959810
NM_001376.5(DYNC1H1):c.2071A>C (p.Met691Leu) rs745510694
NM_001376.5(DYNC1H1):c.2719-6C>T rs199763298
NM_001376.5(DYNC1H1):c.345-10T>G rs202110844
NM_001376.5(DYNC1H1):c.3495T>C (p.Asp1165=) rs144359313
NM_001376.5(DYNC1H1):c.432G>A (p.Ser144=) rs533327200
NM_001376.5(DYNC1H1):c.4331C>T (p.Ala1444Val) rs141561289
NM_001376.5(DYNC1H1):c.5050-15T>C rs190979027
NM_001376.5(DYNC1H1):c.5295A>G (p.Ala1765=) rs139919955
NM_001376.5(DYNC1H1):c.5311G>A (p.Gly1771Arg) rs139842853
NM_001376.5(DYNC1H1):c.5472C>T (p.Ser1824=) rs769577090
NM_001376.5(DYNC1H1):c.5985C>T (p.Ala1995=) rs140841480
NM_001376.5(DYNC1H1):c.7192C>T (p.Arg2398Cys) rs141525226
NM_001376.5(DYNC1H1):c.7200C>A (p.Gly2400=)
NM_001376.5(DYNC1H1):c.7410G>A (p.Ala2470=) rs139109090
NM_001376.5(DYNC1H1):c.7420G>A (p.Ala2474Thr) rs766837403
NM_001376.5(DYNC1H1):c.8304G>A (p.Pro2768=) rs77113510
NM_001376.5(DYNC1H1):c.8784A>G (p.Gln2928=) rs149753029
NM_001376.5(DYNC1H1):c.9093G>A (p.Thr3031=) rs145208135
NM_001376.5(DYNC1H1):c.9762+9T>G rs376545350
NM_001540.5(HSPB1):c.*22C>T
NM_001540.5(HSPB1):c.-4C>T rs372833436
NM_001540.5(HSPB1):c.108C>G (p.Pro36=)
NM_001540.5(HSPB1):c.24C>T (p.Phe8=) rs201769668
NM_001540.5(HSPB1):c.365-6C>G rs200902768
NM_001540.5(HSPB1):c.383A>G (p.Gln128Arg) rs558882005
NM_001540.5(HSPB1):c.498G>A (p.Glu166=) rs148357753
NM_001540.5(HSPB1):c.501C>T (p.Ala167=) rs529095936
NM_001605.2(AARS1):c.*213C>T rs150625194
NM_001605.2(AARS1):c.1410C>T (p.Ile470=) rs79785372
NM_001605.2(AARS1):c.1509G>A (p.Val503=) rs138406510
NM_001605.2(AARS1):c.1671+10C>T rs184240527
NM_001605.2(AARS1):c.1737C>T (p.Ile579=) rs144323646
NM_001605.2(AARS1):c.1824G>A (p.Thr608=) rs199644417
NM_001605.2(AARS1):c.2178-14G>A rs371633904
NM_001605.2(AARS1):c.2217C>T (p.Ile739=) rs770980206
NM_001605.2(AARS1):c.2459A>G (p.Lys820Arg) rs147319762
NM_001605.2(AARS1):c.2580G>A (p.Leu860=) rs145581652
NM_001605.2(AARS1):c.2700G>A (p.Thr900=) rs140814462
NM_001605.2(AARS1):c.2732A>G (p.Asn911Ser) rs746822330
NM_001605.2(AARS1):c.600C>T (p.Ala200=) rs150080663
NM_001605.3(AARS1):c.1656T>C (p.Asp552=)
NM_001605.3(AARS1):c.2019G>C (p.Leu673=)
NM_001605.3(AARS1):c.2592C>T (p.Ser864=) rs11537665
NM_001605.3(AARS1):c.2730C>T (p.Ala910=) rs199839663
NM_001605.3(AARS1):c.430G>A (p.Ala144Thr) rs147187788
NM_002047.4(GARS1):c.-36C>A rs531483802
NM_002047.4(GARS1):c.1100A>G (p.Asn367Ser) rs192443850
NM_002047.4(GARS1):c.1716G>A (p.Pro572=) rs370608239
NM_002047.4(GARS1):c.1852G>A (p.Val618Ile) rs369894731
NM_002047.4(GARS1):c.1923T>C (p.His641=) rs182542046
NM_002047.4(GARS1):c.1962C>T (p.Ile654=) rs201927627
NM_002047.4(GARS1):c.2212G>A (p.Glu738Lys) rs181251337
NM_002047.4(GARS1):c.253A>G (p.Lys85Glu) rs200294578
NM_002047.4(GARS1):c.270C>T (p.Asp90=) rs369898799
NM_002047.4(GARS1):c.302G>A (p.Arg101His) rs200887429
NM_002047.4(GARS1):c.562G>A (p.Val188Ile) rs376772628
NM_002047.4(GARS1):c.699C>T (p.Val233=) rs187937286
NM_002047.4(GARS1):c.700G>A (p.Glu234Lys) rs373326652
NM_002047.4(GARS1):c.764C>T (p.Ala255Val) rs765478968
NM_002047.4(GARS1):c.766G>C (p.Asp256His) rs201399681
NM_002047.4(GARS1):c.882-15T>G rs199741850
NM_003680.3(YARS1):c.684+3A>G rs375332060
NM_003680.3(YARS1):c.946G>A (p.Ala316Thr) rs138454151
NM_004637.5(RAB7A):c.552C>T (p.Asn184=) rs143140848
NM_004637.6(RAB7A):c.*1026G>A
NM_004637.6(RAB7A):c.*1141C>T
NM_006096.3(NDRG1):c.*1473G>A rs187466317
NM_006096.3(NDRG1):c.*1622T>G rs7825439
NM_006096.3(NDRG1):c.*264C>G rs73711834
NM_006096.3(NDRG1):c.*653T>C rs147301529
NM_006096.3(NDRG1):c.306C>T (p.Gly102=) rs2233322
NM_006096.3(NDRG1):c.507G>A (p.Ala169=) rs2233331
NM_006096.4(NDRG1):c.*377G>A
NM_006158.4(NEFL):c.1212C>T (p.Ser404=) rs60547413
NM_006158.4(NEFL):c.1329C>T (p.Tyr443=) rs140532785
NM_006158.5(NEFL):c.*436T>G
NM_006158.5(NEFL):c.1315T>A (p.Phe439Ile)
NM_006158.5(NEFL):c.1408C>T (p.Pro470Ser)
NM_006158.5(NEFL):c.339G>C (p.Gln113His)
NM_006158.5(NEFL):c.558G>A (p.Glu186=)
NM_006329.3(FBLN5):c.*423T>C rs17731705
NM_006329.3(FBLN5):c.*647C>T rs10197
NM_006329.3(FBLN5):c.-411A>G rs143296045
NM_006329.3(FBLN5):c.-57G>A rs546827390
NM_006329.3(FBLN5):c.1113G>A (p.Thr371=) rs560780691
NM_006329.3(FBLN5):c.376G>A (p.Val126Met) rs61734479
NM_006329.3(FBLN5):c.604G>A (p.Gly202Arg) rs80338765
NM_006329.3(FBLN5):c.620-8T>C rs147699855
NM_006329.3(FBLN5):c.621T>C (p.Asp207=) rs200178859
NM_006329.3(FBLN5):c.714T>A (p.Leu238=) rs141152607
NM_014365.2(HSPB8):c.233G>T (p.Arg78Met) rs55826713
NM_014365.2(HSPB8):c.266C>G (p.Pro89Arg) rs35909818
NM_014365.2(HSPB8):c.48G>A (p.Leu16=) rs755586270
NM_014845.5(FIG4):c.173A>G (p.Tyr58Cys) rs145337669
NM_014845.6(FIG4):c.658A>G (p.Ile220Val) rs565096937
NM_014874.3(MFN2):c.*221_*222dup rs558848411
NM_014874.3(MFN2):c.-149-15T>G rs114306601
NM_014874.3(MFN2):c.-249T>A rs2180182
NM_014874.3(MFN2):c.-287C>T rs2180181
NM_014874.3(MFN2):c.1403G>A (p.Arg468His) rs138382758
NM_014874.3(MFN2):c.159C>T (p.Ser53=) rs61733200
NM_014874.3(MFN2):c.1818C>T (p.Gly606=) rs373843969
NM_014874.3(MFN2):c.2145C>T (p.Ala715=) rs571011689
NM_014874.3(MFN2):c.2146G>A (p.Ala716Thr) rs144860227
NM_014874.3(MFN2):c.408A>T (p.Val136=) rs78814413
NM_014874.3(MFN2):c.58C>T (p.His20Tyr) rs201715603
NM_014874.3(MFN2):c.892G>A (p.Gly298Arg) rs41278630
NM_014874.4(MFN2):c.205G>A (p.Val69Ile)
NM_014874.4(MFN2):c.2204+13C>T
NM_016156.5(MTMR2):c.*1089C>G rs147982779
NM_016156.5(MTMR2):c.*1684A>C rs79576160
NM_016156.5(MTMR2):c.*2187A>G rs141738388
NM_016156.5(MTMR2):c.*837G>A rs532069328
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.1805C>G (p.Ala602Gly) rs76784113
NM_016156.5(MTMR2):c.1862G>A (p.Arg621Gln) rs371925152
NM_016156.5(MTMR2):c.240A>C (p.Pro80=) rs201920176
NM_018972.4(GDAP1):c.*1006C>T
NM_018972.4(GDAP1):c.*1162T>C rs113017051
NM_018972.4(GDAP1):c.*1639A>G rs145245478
NM_018972.4(GDAP1):c.*1639A>T
NM_018972.4(GDAP1):c.*1701T>C rs781146378
NM_018972.4(GDAP1):c.*1819T>C
NM_018972.4(GDAP1):c.*2408G>A rs11996204
NM_018972.4(GDAP1):c.*723G>A
NM_020956.2(PRX):c.*1829C>T rs201337455
NM_020956.2(PRX):c.*2041C>T rs574899855
NM_020956.2(PRX):c.*2980C>T rs201792838
NM_020956.2(PRX):c.*4152C>T rs142762689
NM_020956.2(PRX):c.*4735C>T rs189487790
NM_020956.2(PRX):c.*698C>T rs555499679
NM_020956.2(PRX):c.*936C>T rs118071705
NM_020956.2(PRX):c.-236G>A rs552436076
NM_021625.4(TRPV4):c.1074C>T (p.Pro358=) rs140040335
NM_021625.4(TRPV4):c.1093G>A (p.Val365Met) rs570675468
NM_021625.4(TRPV4):c.1139C>T (p.Thr380Met) rs764949536
NM_021625.4(TRPV4):c.1308C>T (p.Ile436=) rs141244183
NM_021625.4(TRPV4):c.1455C>T (p.Phe485=) rs189872222
NM_021625.4(TRPV4):c.1491+10C>T rs201815805
NM_021625.4(TRPV4):c.152C>T (p.Pro51Leu) rs115861965
NM_021625.4(TRPV4):c.1539C>T (p.Gly513=) rs141295418
NM_021625.4(TRPV4):c.1546A>G (p.Ile516Val) rs115976458
NM_021625.4(TRPV4):c.1584+13C>T rs199712027
NM_021625.4(TRPV4):c.1658+15C>T rs200083069
NM_021625.4(TRPV4):c.1729G>A (p.Val577Met) rs140535889
NM_021625.4(TRPV4):c.1825-15C>T rs200602134
NM_021625.4(TRPV4):c.2043C>T (p.Gly681=) rs375633647
NM_021625.4(TRPV4):c.2248G>A (p.Val750Ile) rs148171058
NM_021625.4(TRPV4):c.2289C>T (p.Thr763=) rs202036871
NM_021625.4(TRPV4):c.2304G>C (p.Ser768=) rs138986228
NM_021625.4(TRPV4):c.2472G>A (p.Ser824=) rs149988106
NM_021625.4(TRPV4):c.2517C>T (p.Asp839=) rs546957932
NM_021625.4(TRPV4):c.402C>A (p.Ser134Arg) rs201241092
NM_021625.4(TRPV4):c.501C>T (p.Asp167=) rs77680510
NM_021625.4(TRPV4):c.650C>T (p.Ala217Val) rs548909101
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.854-4G>A rs371733585
NM_021625.4(TRPV4):c.936G>A (p.Ala312=) rs202084699
NM_021625.4(TRPV4):c.958C>T (p.Arg320Ter) rs142902080
NM_024577.3(SH3TC2):c.*10875T>C rs184560843
NM_024577.3(SH3TC2):c.*11010A>G rs114735628
NM_024577.3(SH3TC2):c.*12108_*12110del rs35182601
NM_024577.3(SH3TC2):c.*12509T>C rs550901114
NM_024577.3(SH3TC2):c.*12637A>G rs536941130
NM_024577.3(SH3TC2):c.*12807G>A rs150317192
NM_024577.3(SH3TC2):c.*13230C>T rs138600983
NM_024577.3(SH3TC2):c.*13352G>A rs192178726
NM_024577.3(SH3TC2):c.*15489G>A rs115194965
NM_024577.3(SH3TC2):c.*16169G>A rs191600511
NM_024577.3(SH3TC2):c.*16378C>A rs144423228
NM_024577.3(SH3TC2):c.*16784C>T rs144720540
NM_024577.3(SH3TC2):c.*16900_*16901delCA rs71957589
NM_024577.3(SH3TC2):c.*16947C>T rs142551288
NM_024577.3(SH3TC2):c.*1750C>T rs146276637
NM_024577.3(SH3TC2):c.*18476T>C rs185251230
NM_024577.3(SH3TC2):c.*18606T>G rs182775401
NM_024577.3(SH3TC2):c.*19002A>G rs546701780
NM_024577.3(SH3TC2):c.*20142A>G rs189978591
NM_024577.3(SH3TC2):c.*20564A>T rs150905092
NM_024577.3(SH3TC2):c.*2081T>G rs543206033
NM_024577.3(SH3TC2):c.*21472A>G rs59731646
NM_024577.3(SH3TC2):c.*21482_*21485delAAAC rs146796490
NM_024577.3(SH3TC2):c.*21728T>C rs142485824
NM_024577.3(SH3TC2):c.*21786G>A rs6890482
NM_024577.3(SH3TC2):c.*22035G>A rs544954149
NM_024577.3(SH3TC2):c.*22212G>A rs149300520
NM_024577.3(SH3TC2):c.*22357T>C rs191754280
NM_024577.3(SH3TC2):c.*22553dup rs55932017
NM_024577.3(SH3TC2):c.*2341A>G rs531168193
NM_024577.3(SH3TC2):c.*2987C>T rs565331463
NM_024577.3(SH3TC2):c.*3061A>G rs138823547
NM_024577.3(SH3TC2):c.*3079G>A rs185297430
NM_024577.3(SH3TC2):c.*4279C>G rs74578025
NM_024577.3(SH3TC2):c.*4298C>T rs145849837
NM_024577.3(SH3TC2):c.*4446G>C rs186152591
NM_024577.3(SH3TC2):c.*4713G>A rs191742061
NM_024577.3(SH3TC2):c.*5020C>T rs371723580
NM_024577.3(SH3TC2):c.*6047T>A rs139490756
NM_024577.3(SH3TC2):c.*6301C>T rs188143654
NM_024577.3(SH3TC2):c.*6302T>A rs545169695
NM_024577.3(SH3TC2):c.*6350G>A rs184940808
NM_024577.3(SH3TC2):c.*6470T>C rs185164450
NM_024577.3(SH3TC2):c.*6820T>C rs60176324
NM_024577.3(SH3TC2):c.*6993T>C rs563203537
NM_024577.3(SH3TC2):c.*711A>C rs567593663
NM_024577.3(SH3TC2):c.*7939C>A rs144288040
NM_024577.3(SH3TC2):c.*8277G>A rs147532508
NM_024577.3(SH3TC2):c.*837G>A rs565462353
NM_024577.3(SH3TC2):c.*858_*861del rs5872107
NM_024577.3(SH3TC2):c.*8622del rs562125931
NM_024577.3(SH3TC2):c.*9361C>T rs573872364
NM_024577.3(SH3TC2):c.*9953C>T rs535186520
NM_024577.3(SH3TC2):c.1842C>T (p.Asp614=) rs138411915
NM_024577.3(SH3TC2):c.1862G>A (p.Arg621His) rs143032801
NM_024577.3(SH3TC2):c.188G>A (p.Arg63Lys) rs747938069
NM_024577.3(SH3TC2):c.1942C>T (p.Arg648Trp) rs537049075
NM_024577.3(SH3TC2):c.238G>A (p.Ala80Thr) rs112507765
NM_024577.4(SH3TC2):c.*11427G>A
NM_024577.4(SH3TC2):c.*12189C>T
NM_024577.4(SH3TC2):c.*12550A>G
NM_024577.4(SH3TC2):c.*13204A>G
NM_024577.4(SH3TC2):c.*13645C>T
NM_024577.4(SH3TC2):c.*14188C>T
NM_024577.4(SH3TC2):c.*16395G>T
NM_024577.4(SH3TC2):c.*1765G>C
NM_024577.4(SH3TC2):c.*20099T>C
NM_024577.4(SH3TC2):c.*20512C>A
NM_024577.4(SH3TC2):c.*2269G>T
NM_024577.4(SH3TC2):c.*4052T>C
NM_024577.4(SH3TC2):c.*5536T>G
NM_024577.4(SH3TC2):c.*5947C>G
NM_024577.4(SH3TC2):c.*6600T>C
NM_024577.4(SH3TC2):c.*7810T>A
NM_024577.4(SH3TC2):c.*7918C>T
NM_024577.4(SH3TC2):c.*797A>G
NM_024577.4(SH3TC2):c.*8533A>G
NM_024577.4(SH3TC2):c.2097G>A (p.Gln699=) rs117860293
NM_030962.3(SBF2):c.*1091G>A
NM_030962.3(SBF2):c.*112G>A rs144513995
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.2611-35AATC[4] rs202029370
NM_030962.3(SBF2):c.3036C>T (p.Thr1012=) rs111967328
NM_030962.3(SBF2):c.4128G>A (p.Ala1376=) rs191964053
NM_030962.3(SBF2):c.4533A>G (p.Thr1511=) rs79251068
NM_030962.3(SBF2):c.5231+14C>T rs371184526
NM_138361.5(LRSAM1):c.*590T>C rs139260397
NM_138361.5(LRSAM1):c.1141C>T (p.Arg381Trp)
NM_138361.5(LRSAM1):c.1153G>A (p.Val385Ile) rs373570877
NM_138361.5(LRSAM1):c.1225C>G (p.Gln409Glu) rs149540339
NM_138361.5(LRSAM1):c.1351G>A (p.Ala451Thr)
NM_138361.5(LRSAM1):c.1382A>T (p.Gln461Leu) rs145382004
NM_138361.5(LRSAM1):c.1504-5C>G rs377190920
NM_138361.5(LRSAM1):c.1601C>T (p.Thr534Met) rs141542114
NM_138361.5(LRSAM1):c.1746G>A (p.Ser582=) rs199997686
NM_138361.5(LRSAM1):c.1930G>T (p.Gly644Cys) rs201284198
NM_138361.5(LRSAM1):c.1950G>A (p.Thr650=) rs199887448
NM_138361.5(LRSAM1):c.1974T>C (p.Ser658=) rs140336379
NM_138361.5(LRSAM1):c.2111G>A (p.Arg704His) rs140808447
NM_138361.5(LRSAM1):c.284C>T (p.Ala95Val) rs570248730
NM_138361.5(LRSAM1):c.406+15G>T rs201808404
NM_138361.5(LRSAM1):c.458G>A (p.Arg153His) rs368689811
NM_138361.5(LRSAM1):c.480C>T (p.Asn160=) rs147205387
NM_138361.5(LRSAM1):c.569G>A (p.Arg190Gln) rs142782210
NM_138361.5(LRSAM1):c.586G>A (p.Gly196Ser) rs148059394
NM_138361.5(LRSAM1):c.685G>A (p.Glu229Lys) rs563259179
NM_138361.5(LRSAM1):c.706G>A (p.Asp236Asn)
NM_138361.5(LRSAM1):c.751-8C>G rs367823841
NM_138361.5(LRSAM1):c.917T>G (p.Leu306Arg) rs140151379
NM_138361.5(LRSAM1):c.94G>A (p.Asp32Asn) rs150784835
NM_138361.5(LRSAM1):c.954C>T (p.Asn318=) rs200527839
NM_139241.3(FGD4):c.*167G>A
NM_139241.3(FGD4):c.*2103A>G rs55963204
NM_139241.3(FGD4):c.*2638A>G rs193167910
NM_139241.3(FGD4):c.*3367G>T rs188648275
NM_139241.3(FGD4):c.*3676A>G rs189489067
NM_139241.3(FGD4):c.*3920del rs144034303
NM_139241.3(FGD4):c.*4014C>A
NM_139241.3(FGD4):c.*4028A>G
NM_139241.3(FGD4):c.*4497G>A rs367545740
NM_139241.3(FGD4):c.*4585T>A
NM_139241.3(FGD4):c.*4831C>T rs145433607
NM_139241.3(FGD4):c.*5244G>A rs186014657
NM_139241.3(FGD4):c.-484C>A rs79370524
NM_139241.3(FGD4):c.1543-8T>C rs115061722
NM_139241.3(FGD4):c.1560C>T (p.Ile520=) rs61748364
NM_139241.3(FGD4):c.1711C>A (p.Pro571Thr) rs144693221
NM_139241.3(FGD4):c.885C>T (p.Phe295=) rs151083690
NM_170707.4(LMNA):c.-128T>C rs80356803
NM_170707.4(LMNA):c.1149G>A (p.Glu383=) rs267607603
NM_170707.4(LMNA):c.1227A>G (p.Thr409=) rs762130433
NM_170707.4(LMNA):c.1324G>A (p.Val442Met) rs368542816
NM_170707.4(LMNA):c.1488+14C>T rs377700689
NM_170707.4(LMNA):c.1488G>A (p.Thr496=) rs375516745
NM_170707.4(LMNA):c.1551G>A (p.Gln517=) rs41314035
NM_170707.4(LMNA):c.1566C>T (p.Cys522=) rs149339264

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.