ClinVar Miner

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

Included ClinVar conditions (98):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 194
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HGVS dbSNP gnomAD frequency
NM_014874.4(MFN2):c.-149-15T>G rs114306601 0.02781
NM_018972.4(GDAP1):c.*2408G>A rs11996204 0.02523
NC_000012.12:g.109833413C>T rs56079803 0.02373
NM_014874.4(MFN2):c.159C>T (p.Ser53=) rs61733200 0.02240
NM_014874.3(MFN2):c.-249T>A rs2180182 0.01549
NM_014874.3(MFN2):c.-287C>T rs2180181 0.01549
NM_018972.4(GDAP1):c.*1162T>C rs113017051 0.00611
NM_001376.5(DYNC1H1):c.7410G>A (p.Ala2470=) rs139109090 0.00548
NM_018972.4(GDAP1):c.*723G>A rs116863614 0.00512
NM_018972.4(GDAP1):c.*1819T>C rs141157275 0.00466
NM_018972.4(GDAP1):c.*1006C>T rs145523828 0.00367
NM_001540.5(HSPB1):c.*22C>T rs557532119 0.00300
NM_001376.5(DYNC1H1):c.11942C>G (p.Thr3981Arg) rs138428684 0.00288
NM_014874.4(MFN2):c.892G>A (p.Gly298Arg) rs41278630 0.00221
NM_001605.3(AARS1):c.*213C>T rs150625194 0.00211
NM_001605.3(AARS1):c.2459A>G (p.Lys820Arg) rs147319762 0.00180
NM_001365951.3(KIF1B):c.-260C>T rs149705989 0.00154
NM_001376.5(DYNC1H1):c.8304G>A (p.Pro2768=) rs77113510 0.00132
NM_170707.4(LMNA):c.1566C>T (p.Cys522=) rs149339264 0.00123
NM_021625.5(TRPV4):c.2248G>A (p.Val750Ile) rs148171058 0.00121
NM_002047.4(GARS1):c.1962C>T (p.Ile654=) rs201927627 0.00120
NM_021625.5(TRPV4):c.1308C>T (p.Ile436=) rs141244183 0.00108
NM_014874.4(MFN2):c.408A>T (p.Val136=) rs78814413 0.00106
NM_001376.5(DYNC1H1):c.13440C>T (p.Ser4480=) rs150286673 0.00103
NM_021625.5(TRPV4):c.854-4G>A rs371733585 0.00098
NM_001376.5(DYNC1H1):c.5295A>G (p.Ala1765=) rs139919955 0.00096
NM_001376.5(DYNC1H1):c.13764G>A (p.Thr4588=) rs35079638 0.00088
NM_001376.5(DYNC1H1):c.10065T>C (p.Ser3355=) rs80096622 0.00087
NM_001376.5(DYNC1H1):c.2719-6C>T rs199763298 0.00078
NM_021625.5(TRPV4):c.2472G>A (p.Ser824=) rs149988106 0.00071
NM_001005373.4(LRSAM1):c.1974T>C (p.Ser658=) rs140336379 0.00065
NM_001605.3(AARS1):c.2580G>A (p.Leu860=) rs145581652 0.00065
NM_001005373.4(LRSAM1):c.406+15G>T rs201808404 0.00064
NM_001376.5(DYNC1H1):c.3495T>C (p.Asp1165=) rs144359313 0.00063
NM_002047.4(GARS1):c.699C>T (p.Val233=) rs187937286 0.00063
NM_001376.5(DYNC1H1):c.12258C>T (p.Thr4086=) rs141242095 0.00059
NM_001376.5(DYNC1H1):c.5050-15T>C rs190979027 0.00059
NM_001376.5(DYNC1H1):c.5985C>T (p.Ala1995=) rs140841480 0.00059
NM_014365.3(HSPB8):c.233G>T (p.Arg78Met) rs55826713 0.00058
NM_001376.5(DYNC1H1):c.10440G>A (p.Lys3480=) rs138887857 0.00056
NM_001376.5(DYNC1H1):c.8784A>G (p.Gln2928=) rs149753029 0.00056
NM_001605.3(AARS1):c.600C>T (p.Ala200=) rs150080663 0.00056
NM_001376.5(DYNC1H1):c.345-10T>G rs202110844 0.00053
NM_021625.5(TRPV4):c.2304G>C (p.Ser768=) rs138986228 0.00053
NM_021625.5(TRPV4):c.769C>G (p.Leu257Val) rs56217500 0.00051
NM_170707.4(LMNA):c.-128T>C rs80356803 0.00051
NM_001005373.4(LRSAM1):c.586G>A (p.Gly196Ser) rs148059394 0.00045
NM_001376.5(DYNC1H1):c.10908+10G>A rs201277756 0.00045
NM_001605.3(AARS1):c.2178-14G>A rs371633904 0.00045
NM_021625.5(TRPV4):c.152C>T (p.Pro51Leu) rs115861965 0.00043
NM_021625.5(TRPV4):c.1539C>T (p.Gly513=) rs141295418 0.00043
NM_021625.5(TRPV4):c.1093G>A (p.Val365Met) rs570675468 0.00042
NM_021625.5(TRPV4):c.1491+10C>T rs201815805 0.00041
NM_001005373.4(LRSAM1):c.1225C>G (p.Gln409Glu) rs149540339 0.00039
NM_001005373.4(LRSAM1):c.917T>G (p.Leu306Arg) rs140151379 0.00039
NM_018972.4(GDAP1):c.*1701T>C rs781146378 0.00038
NM_021625.5(TRPV4):c.1546A>G (p.Ile516Val) rs115976458 0.00036
NM_001005373.4(LRSAM1):c.2111G>A (p.Arg704His) rs140808447 0.00035
NM_001376.5(DYNC1H1):c.11596-7G>A rs375593873 0.00034
NM_001376.5(DYNC1H1):c.9762+9T>G rs376545350 0.00033
NM_014874.4(MFN2):c.2146G>A (p.Ala716Thr) rs144860227 0.00032
NM_001376.5(DYNC1H1):c.7192C>T (p.Arg2398Cys) rs141525226 0.00030
NM_001605.3(AARS1):c.430G>A (p.Ala144Thr) rs147187788 0.00030
NM_001005373.4(LRSAM1):c.1950G>A (p.Thr650=) rs199887448 0.00029
NM_002047.4(GARS1):c.253A>G (p.Lys85Glu) rs200294578 0.00029
NM_021625.5(TRPV4):c.2043C>T (p.Gly681=) rs375633647 0.00029
NM_001376.5(DYNC1H1):c.-13C>G rs537857759 0.00026
NM_021625.5(TRPV4):c.501C>T (p.Asp167=) rs77680510 0.00026
NM_021625.5(TRPV4):c.402C>A (p.Ser134Arg) rs201241092 0.00025
NM_001540.5(HSPB1):c.24C>T (p.Phe8=) rs201769668 0.00024
NM_002047.4(GARS1):c.1100A>G (p.Asn367Ser) rs192443850 0.00024
NM_001376.5(DYNC1H1):c.13149C>T (p.Thr4383=) rs375767483 0.00023
NM_001376.5(DYNC1H1):c.13707G>A (p.Thr4569=) rs138571942 0.00023
NM_001605.3(AARS1):c.2217C>T (p.Ile739=) rs770980206 0.00022
NM_002047.4(GARS1):c.302G>A (p.Arg101His) rs200887429 0.00022
NM_001376.5(DYNC1H1):c.1704T>C (p.Leu568=) rs192959810 0.00021
NM_001376.5(DYNC1H1):c.9093G>A (p.Thr3031=) rs145208135 0.00021
NM_001005373.4(LRSAM1):c.569G>A (p.Arg190Gln) rs142782210 0.00020
NM_021625.5(TRPV4):c.1584+13C>T rs199712027 0.00020
NM_021625.5(TRPV4):c.2289C>T (p.Thr763=) rs202036871 0.00019
NM_001005373.4(LRSAM1):c.*590T>C rs139260397 0.00017
NM_001005373.4(LRSAM1):c.94G>A (p.Asp32Asn) rs150784835 0.00017
NM_014874.4(MFN2):c.2157G>A (p.Lys719=) rs148441213 0.00017
NM_014874.4(MFN2):c.*1706T>G rs543365043 0.00016
NM_021625.5(TRPV4):c.1658+15C>T rs200083069 0.00016
NM_001005373.4(LRSAM1):c.1601C>T (p.Thr534Met) rs141542114 0.00015
NM_001376.5(DYNC1H1):c.13359C>T (p.Asn4453=) rs140033479 0.00014
NM_014874.4(MFN2):c.-161G>A rs140094248 0.00014
NM_001376.5(DYNC1H1):c.12075C>T (p.Leu4025=) rs373636519 0.00013
NM_170707.4(LMNA):c.1488+14C>T rs377700689 0.00013
NM_001605.3(AARS1):c.1671+10C>T rs184240527 0.00012
NM_001605.3(AARS1):c.2592C>T (p.Ser864=) rs11537665 0.00012
NM_001005373.4(LRSAM1):c.751-8C>G rs367823841 0.00011
NM_001376.5(DYNC1H1):c.5311G>A (p.Gly1771Arg) rs139842853 0.00011
NM_001605.3(AARS1):c.1509G>A (p.Val503=) rs138406510 0.00011
NM_004637.6(RAB7A):c.552C>T (p.Asn184=) rs143140848 0.00011
NM_014874.4(MFN2):c.*26G>A rs374800481 0.00011
NM_001605.3(AARS1):c.1410C>T (p.Ile470=) rs79785372 0.00010
NM_001605.3(AARS1):c.2730C>T (p.Ala910=) rs199839663 0.00010
NM_014874.4(MFN2):c.842G>C (p.Cys281Ser) rs147136530 0.00010
NM_001005373.4(LRSAM1):c.1153G>A (p.Val385Ile) rs373570877 0.00009
NM_001005373.4(LRSAM1):c.1746G>A (p.Ser582=) rs199997686 0.00009
NM_001005373.4(LRSAM1):c.480C>T (p.Asn160=) rs147205387 0.00009
NM_002047.4(GARS1):c.270C>T (p.Asp90=) rs369898799 0.00009
NM_002047.4(GARS1):c.700G>A (p.Glu234Lys) rs373326652 0.00009
NM_001376.5(DYNC1H1):c.10992C>T (p.Leu3664=) rs368621706 0.00008
NM_002047.4(GARS1):c.1716G>A (p.Pro572=) rs370608239 0.00008
NM_002047.4(GARS1):c.882-15T>G rs199741850 0.00008
NM_021625.5(TRPV4):c.1729G>A (p.Val577Met) rs140535889 0.00008
NM_001376.5(DYNC1H1):c.10506C>A (p.Thr3502=) rs548760128 0.00007
NM_001540.5(HSPB1):c.501C>T (p.Ala167=) rs529095936 0.00007
NM_002047.4(GARS1):c.562G>A (p.Val188Ile) rs376772628 0.00007
NM_021625.5(TRPV4):c.2517C>T (p.Asp839=) rs546957932 0.00007
NM_001376.5(DYNC1H1):c.13675G>A (p.Gly4559Arg) rs761881469 0.00006
NM_002047.4(GARS1):c.1852G>A (p.Val618Ile) rs369894731 0.00006
NM_002047.4(GARS1):c.2212G>A (p.Glu738Lys) rs181251337 0.00006
NM_002047.4(GARS1):c.764C>T (p.Ala255Val) rs765478968 0.00006
NM_004637.6(RAB7A):c.*1141C>T rs192329045 0.00006
NM_021625.5(TRPV4):c.1139C>T (p.Thr380Met) rs764949536 0.00006
NM_021625.5(TRPV4):c.2484C>T (p.Arg828=) rs142656819 0.00006
NM_021625.5(TRPV4):c.958C>T (p.Arg320Ter) rs142902080 0.00006
NM_170707.4(LMNA):c.1149G>A (p.Glu383=) rs267607603 0.00006
NM_001005373.4(LRSAM1):c.458G>A (p.Arg153His) rs368689811 0.00005
NM_001540.5(HSPB1):c.-4C>T rs372833436 0.00005
NM_014874.4(MFN2):c.179C>T (p.Thr60Met) rs138345244 0.00005
NM_170707.4(LMNA):c.1488G>A (p.Thr496=) rs375516745 0.00005
NM_001005373.4(LRSAM1):c.1141C>T (p.Arg381Trp) rs763390117 0.00004
NM_001005373.4(LRSAM1):c.1382A>T (p.Gln461Leu) rs145382004 0.00004
NM_001005373.4(LRSAM1):c.685G>A (p.Glu229Lys) rs563259179 0.00004
NM_001005373.4(LRSAM1):c.954C>T (p.Asn318=) rs200527839 0.00004
NM_001376.5(DYNC1H1):c.10941G>A (p.Pro3647=) rs374214760 0.00004
NM_001605.3(AARS1):c.2700G>A (p.Thr900=) rs140814462 0.00004
NM_014874.4(MFN2):c.522T>C (p.His174=) rs762789747 0.00004
NM_014874.4(MFN2):c.58C>T (p.His20Tyr) rs201715603 0.00004
NM_021625.5(TRPV4):c.1074C>T (p.Pro358=) rs140040335 0.00004
NM_021625.5(TRPV4):c.936G>A (p.Ala312=) rs202084699 0.00004
NM_001005361.3(DNM2):c.2031G>A (p.Lys677=) rs768285660 0.00003
NM_001005361.3(DNM2):c.750A>G (p.Ala250=) rs202214529 0.00003
NM_001005373.4(LRSAM1):c.1504-5C>G rs377190920 0.00003
NM_001376.5(DYNC1H1):c.11460+12G>A rs17512790 0.00003
NM_001540.5(HSPB1):c.383A>G (p.Gln128Arg) rs558882005 0.00003
NM_001605.3(AARS1):c.2732A>G (p.Asn911Ser) rs746822330 0.00003
NM_002047.4(GARS1):c.1923T>C (p.His641=) rs182542046 0.00003
NM_170707.4(LMNA):c.1227A>G (p.Thr409=) rs762130433 0.00003
NM_170707.4(LMNA):c.1324G>A (p.Val442Met) rs368542816 0.00003
NM_001376.5(DYNC1H1):c.13088A>C (p.Lys4363Thr) rs141925609 0.00002
NM_001376.5(DYNC1H1):c.13151C>T (p.Ala4384Val) rs201971718 0.00002
NM_001376.5(DYNC1H1):c.2071A>C (p.Met691Leu) rs745510694 0.00002
NM_001540.5(HSPB1):c.498G>A (p.Glu166=) rs148357753 0.00002
NM_014365.3(HSPB8):c.48G>A (p.Leu16=) rs755586270 0.00002
NM_014874.4(MFN2):c.1818C>T (p.Gly606=) rs373843969 0.00002
NM_001005361.3(DNM2):c.1773G>A (p.Thr591=) rs201604679 0.00001
NM_001005373.4(LRSAM1):c.284C>T (p.Ala95Val) rs570248730 0.00001
NM_001376.5(DYNC1H1):c.11497C>T (p.Leu3833=) rs200735835 0.00001
NM_001376.5(DYNC1H1):c.12759C>T (p.Gly4253=) rs529010293 0.00001
NM_001376.5(DYNC1H1):c.432G>A (p.Ser144=) rs533327200 0.00001
NM_001376.5(DYNC1H1):c.4331C>T (p.Ala1444Val) rs141561289 0.00001
NM_001376.5(DYNC1H1):c.5472C>T (p.Ser1824=) rs769577090 0.00001
NM_001376.5(DYNC1H1):c.7200C>A (p.Gly2400=) rs549582489 0.00001
NM_001376.5(DYNC1H1):c.7420G>A (p.Ala2474Thr) rs766837403 0.00001
NM_001605.3(AARS1):c.1656T>C (p.Asp552=) rs148659998 0.00001
NM_001605.3(AARS1):c.2019G>C (p.Leu673=) rs775476419 0.00001
NM_002047.4(GARS1):c.766G>C (p.Asp256His) rs201399681 0.00001
NM_014874.4(MFN2):c.205G>A (p.Val69Ile) rs28940296 0.00001
NM_021625.5(TRPV4):c.1455C>T (p.Phe485=) rs189872222 0.00001
NM_021625.5(TRPV4):c.650C>T (p.Ala217Val) rs548909101 0.00001
NM_001005373.4(LRSAM1):c.*105del rs200242834
NM_001005373.4(LRSAM1):c.1351G>A (p.Ala451Thr) rs202166023
NM_001005373.4(LRSAM1):c.1930G>T (p.Gly644Cys) rs201284198
NM_001005373.4(LRSAM1):c.706G>A (p.Asp236Asn) rs551957380
NM_001365951.3(KIF1B):c.*4127dup rs548680591
NM_001365951.3(KIF1B):c.*4279dup rs531640427
NM_001365951.3(KIF1B):c.-26TA[7] rs34063243
NM_001376.5(DYNC1H1):c.12354G>T (p.Pro4118=) rs143574214
NM_001376.5(DYNC1H1):c.13203C>T (p.Thr4401=) rs138022242
NM_001540.5(HSPB1):c.108C>G (p.Pro36=) rs765197724
NM_001540.5(HSPB1):c.365-6C>G rs200902768
NM_001605.3(AARS1):c.1737C>T (p.Ile579=) rs144323646
NM_001605.3(AARS1):c.1824G>A (p.Thr608=) rs199644417
NM_002047.4(GARS1):c.*145del rs529035174
NM_002047.4(GARS1):c.*36del rs758974790
NM_002047.4(GARS1):c.-36C>A rs531483802
NM_004637.6(RAB7A):c.*1026G>A rs376185459
NM_004637.6(RAB7A):c.*997del rs371200521
NM_014365.3(HSPB8):c.*848TAA[9] rs60924821
NM_014365.3(HSPB8):c.266C>G (p.Pro89Arg) rs35909818
NM_014874.4(MFN2):c.*221_*222dup rs558848411
NM_014874.4(MFN2):c.1920C>G (p.Leu640=) rs141468012
NM_014874.4(MFN2):c.1950G>A (p.Leu650=) rs772030424
NM_018972.4(GDAP1):c.*1639A>G rs145245478
NM_018972.4(GDAP1):c.*1639A>T rs145245478
NM_021625.5(TRPV4):c.1825-15C>T rs200602134
NM_021625.5(TRPV4):c.760G>A (p.Val254Met) rs143548402
NM_170707.4(LMNA):c.1551G>A (p.Gln517=) rs41314035

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