ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease type 2 by Illumina Laboratory Services, Illumina

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ClinVar version:
Total variants: 163
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HGVS dbSNP gnomAD frequency
NM_014874.4(MFN2):c.*58A>G rs1042842 0.71104
NM_014874.4(MFN2):c.*896G>C rs3088064 0.55119
NC_000001.11:g.10381606T>C rs3748581 0.53815
NM_014874.3(MFN2):c.-212T>C rs2180183 0.53102
NM_014874.3(MFN2):c.-367A>G rs2236054 0.52635
NM_014874.4(MFN2):c.2204+15T>C rs77262016 0.07571
NM_014874.4(MFN2):c.*1488C>T rs11554507 0.05161
NM_014874.4(MFN2):c.*912C>T rs14305 0.04860
NM_014874.4(MFN2):c.1569C>T (p.Ser523=) rs1042837 0.04459
NM_014874.4(MFN2):c.*1100A>G rs41278638 0.04352
NM_014874.4(MFN2):c.-149-15T>G rs114306601 0.02781
NC_000012.12:g.109833413C>T rs56079803 0.02373
NM_014874.4(MFN2):c.*1161C>A rs115706485 0.02302
NM_014874.4(MFN2):c.159C>T (p.Ser53=) rs61733200 0.02240
NM_014874.4(MFN2):c.*1576C>T rs78523898 0.02185
NM_014874.4(MFN2):c.*730C>T rs112550280 0.02163
NM_014874.4(MFN2):c.*231G>A rs41278636 0.01666
NM_014874.4(MFN2):c.*777T>C rs112854268 0.01628
NM_014874.3(MFN2):c.-249T>A rs2180182 0.01549
NM_014874.3(MFN2):c.-287C>T rs2180181 0.01549
NM_014874.4(MFN2):c.2205-13C>A rs76020240 0.01362
NM_014874.4(MFN2):c.*304A>G rs80118679 0.00841
NM_014874.4(MFN2):c.957C>T (p.Gly319=) rs41278632 0.00690
NM_014874.4(MFN2):c.2113G>A (p.Val705Ile) rs142271930 0.00621
NM_014874.4(MFN2):c.744C>T (p.Leu248=) rs61733205 0.00591
NM_014874.4(MFN2):c.*1034C>T rs56333319 0.00427
NM_014874.4(MFN2):c.975C>T (p.Gly325=) rs141475476 0.00357
NM_014874.4(MFN2):c.*1830C>T rs74609163 0.00341
NM_014874.4(MFN2):c.892G>A (p.Gly298Arg) rs41278630 0.00221
NM_001365951.3(KIF1B):c.-260C>T rs149705989 0.00154
NM_014874.4(MFN2):c.165C>T (p.Thr55=) rs77458527 0.00106
NM_014874.4(MFN2):c.408A>T (p.Val136=) rs78814413 0.00106
NM_014874.4(MFN2):c.150C>A (p.Ile50=) rs78841746 0.00089
NM_014874.4(MFN2):c.891C>T (p.Ala297=) rs11554508 0.00087
NM_014874.4(MFN2):c.1452G>A (p.Thr484=) rs150043585 0.00083
NM_014874.4(MFN2):c.*1546G>A rs3737960 0.00074
NM_014874.4(MFN2):c.-4-13G>T rs373679523 0.00060
NM_014874.4(MFN2):c.1495+9C>T rs375494746 0.00059
NM_001005373.4(LRSAM1):c.1860C>T (p.His620=) rs147734401 0.00054
NM_014874.4(MFN2):c.756C>T (p.Asn252=) rs137960129 0.00053
NM_014874.3(MFN2):c.-359C>G rs997846275 0.00049
NM_014874.3(MFN2):c.-382G>A rs568548916 0.00047
NM_014874.4(MFN2):c.1827C>T (p.Ser609=) rs138724074 0.00039
NM_014874.4(MFN2):c.2146G>A (p.Ala716Thr) rs144860227 0.00032
NM_014874.4(MFN2):c.*413C>T rs558887681 0.00031
NM_014874.4(MFN2):c.*1054C>T rs951038336 0.00025
NM_014874.4(MFN2):c.*1539G>A rs557643473 0.00025
NM_014874.4(MFN2):c.*1535C>T rs778755558 0.00021
NM_014874.4(MFN2):c.*946C>A rs765105334 0.00019
NM_014874.4(MFN2):c.2157G>A (p.Lys719=) rs148441213 0.00017
NM_014874.4(MFN2):c.*1706T>G rs543365043 0.00016
NM_014874.4(MFN2):c.*1794_*1796del rs540280019 0.00015
NM_014874.4(MFN2):c.*1276G>A rs766342161 0.00014
NM_014874.4(MFN2):c.-161G>A rs140094248 0.00014
NM_014874.4(MFN2):c.474+4A>G rs141974160 0.00014
NM_030973.4(MED25):c.1966C>A (p.Pro656Thr) rs199761611 0.00014
NM_014874.4(MFN2):c.*256G>A rs557772799 0.00012
NM_014874.4(MFN2):c.*1153C>T rs542684406 0.00011
NM_014874.4(MFN2):c.*26G>A rs374800481 0.00011
NM_014874.4(MFN2):c.*36G>A rs377468070 0.00011
NM_014874.4(MFN2):c.1987C>T (p.Arg663Cys) rs369762154 0.00011
NM_014874.4(MFN2):c.*813G>A rs771869272 0.00010
NM_014874.4(MFN2):c.842G>C (p.Cys281Ser) rs147136530 0.00010
NM_001365951.3(KIF1B):c.315T>C (p.Tyr105=) rs144889528 0.00009
NM_001365951.3(KIF1B):c.*3644dup rs775451005 0.00007
NM_014874.3(MFN2):c.-468G>A rs973376897 0.00006
NM_021625.5(TRPV4):c.2484C>T (p.Arg828=) rs142656819 0.00006
NM_001365951.3(KIF1B):c.*2032T>A rs190108168 0.00005
NM_014874.3(MFN2):c.-328T>A rs886045217 0.00005
NM_014874.4(MFN2):c.*1295G>A rs763783578 0.00005
NM_014874.4(MFN2):c.179C>T (p.Thr60Met) rs138345244 0.00005
NM_014874.4(MFN2):c.1269G>A (p.Thr423=) rs145994616 0.00004
NM_014874.4(MFN2):c.176-7C>T rs374055101 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_170707.4(LMNA):c.936+12C>T rs199881992 0.00004
NM_001005373.4(LRSAM1):c.804C>T (p.Leu268=) rs771510127 0.00003
NM_014874.4(MFN2):c.*1562G>A rs551566332 0.00003
NM_014874.4(MFN2):c.*1662T>C rs1020801224 0.00003
NM_014874.4(MFN2):c.2145C>T (p.Ala715=) rs571011689 0.00003
NM_001376.5(DYNC1H1):c.5424A>G (p.Leu1808=) rs770425304 0.00002
NM_014874.4(MFN2):c.1818C>T (p.Gly606=) rs373843969 0.00002
NM_170707.4(LMNA):c.-109G>T rs886045360 0.00002
NM_001005373.4(LRSAM1):c.1011C>T (p.Ser337=) rs886063456 0.00001
NM_001365951.3(KIF1B):c.*1104C>T rs886044995 0.00001
NM_001365951.3(KIF1B):c.1038-5del rs886044976 0.00001
NM_014874.4(MFN2):c.*1222G>A rs531732785 0.00001
NM_014874.4(MFN2):c.*131G>A rs1639706861 0.00001
NM_014874.4(MFN2):c.*1902C>T rs933126234 0.00001
NM_014874.4(MFN2):c.*226C>T rs184254413 0.00001
NM_014874.4(MFN2):c.*297T>A rs886045224 0.00001
NM_014874.4(MFN2):c.*870C>T rs886045227 0.00001
NM_014874.4(MFN2):c.1806C>T (p.Ser602=) rs201258935 0.00001
NM_014874.4(MFN2):c.205G>A (p.Val69Ile) rs28940296 0.00001
NM_014874.4(MFN2):c.2204+13C>T rs200441797 0.00001
NM_001005373.4(LRSAM1):c.*105del rs200242834
NM_001005373.4(LRSAM1):c.-189+120_-189+122del rs749626964
NM_001365951.3(KIF1B):c.*1363dup rs567435289
NM_001365951.3(KIF1B):c.*249CA[13] rs111663673
NM_001365951.3(KIF1B):c.*249CA[14] rs111663673
NM_001365951.3(KIF1B):c.*249CA[15] rs111663673
NM_001365951.3(KIF1B):c.*249CA[17] rs111663673
NM_001365951.3(KIF1B):c.*249CA[18] rs111663673
NM_001365951.3(KIF1B):c.*249CA[19] rs111663673
NM_001365951.3(KIF1B):c.*281_*282dup rs886044986
NM_001365951.3(KIF1B):c.*281_*286del rs886044990
NM_001365951.3(KIF1B):c.*2978dup rs145348144
NM_001365951.3(KIF1B):c.*4127dup rs548680591
NM_001365951.3(KIF1B):c.*4279dup rs531640427
NM_001365951.3(KIF1B):c.*454CT[1] rs886044993
NM_001365951.3(KIF1B):c.*4664_*4665insG rs571589510
NM_001365951.3(KIF1B):c.-26TA[7] rs34063243
NM_001365951.3(KIF1B):c.883-10_883-7del rs886044975
NM_001376.5(DYNC1H1):c.10320G>A (p.Leu3440=) rs886050371
NM_001540.5(HSPB1):c.*100_*103del rs537392004
NM_002047.4(GARS1):c.*145del rs529035174
NM_002047.4(GARS1):c.*36del rs758974790
NM_002047.4(GARS1):c.*50_*51del rs70983380
NM_002047.4(GARS1):c.*51del rs70983380
NM_004637.5(RAB7A):c.-209_-204dup rs770559386
NM_004637.6(RAB7A):c.*182CA[9] rs139417205
NM_004637.6(RAB7A):c.*421_*423del rs886057944
NM_004637.6(RAB7A):c.*801dup rs886057948
NM_004637.6(RAB7A):c.*997del rs371200521
NM_004637.6(RAB7A):c.-70CTC[2] rs763539443
NM_005572.3(LMNA):c.-225C>A rs886045355
NM_014365.3(HSPB8):c.*707_*720delinsAAAA rs886049028
NM_014365.3(HSPB8):c.*848TAA[10] rs60924821
NM_014365.3(HSPB8):c.*848TAA[9] rs60924821
NM_014874.3(MFN2):c.-217C>A rs886045218
NM_014874.3(MFN2):c.-344C>T rs886045216
NM_014874.4(MFN2):c.*1068C>T rs886045229
NM_014874.4(MFN2):c.*121A>G rs886045222
NM_014874.4(MFN2):c.*1258G>A rs116156978
NM_014874.4(MFN2):c.*1392A>G rs886045230
NM_014874.4(MFN2):c.*1640del rs35943162
NM_014874.4(MFN2):c.*1640dup rs35943162
NM_014874.4(MFN2):c.*1763G>A rs1639769422
NM_014874.4(MFN2):c.*1797GTT[1] rs140537612
NM_014874.4(MFN2):c.*221_*222dup rs558848411
NM_014874.4(MFN2):c.*381C>A rs966318629
NM_014874.4(MFN2):c.*57C>T rs886045221
NM_014874.4(MFN2):c.*610del rs747291228
NM_014874.4(MFN2):c.*864T>C rs886045226
NM_014874.4(MFN2):c.*935G>T rs886045228
NM_014874.4(MFN2):c.-80C>T rs7538183
NM_014874.4(MFN2):c.153G>T (p.Gln51His) rs886045219
NM_014874.4(MFN2):c.1631A>G (p.His544Arg) rs1639384043
NM_014874.4(MFN2):c.1659G>A (p.Val553=) rs886045220
NM_014874.4(MFN2):c.1716+8A>G rs1639390139
NM_014874.4(MFN2):c.1920C>G (p.Leu640=) rs141468012
NM_014874.4(MFN2):c.1938C>A (p.Val646=) rs1040702840
NM_014874.4(MFN2):c.1950G>A (p.Leu650=) rs772030424
NM_014874.4(MFN2):c.2211A>G (p.Lys737=) rs1639694970
NM_014874.4(MFN2):c.271G>A (p.Val91Met) rs1557519001
NM_014874.4(MFN2):c.708G>A (p.Thr236=) rs1557524867
NM_014874.4(MFN2):c.898C>T (p.Arg300Cys) rs863224066
NM_170707.4(LMNA):c.-142C>A rs886045358
NM_170707.4(LMNA):c.-183C>A rs886045357
NM_170707.4(LMNA):c.-5C>A rs886045362
NM_170707.4(LMNA):c.-62C>A rs886045361
NM_170707.4(LMNA):c.1698+124C>T rs1057516022
NM_170707.4(LMNA):c.985C>A (p.Arg329Ser) rs775159300

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