ClinVar Miner

List of variants reported as likely pathogenic for Charcot-Marie-Tooth disease

Included ClinVar conditions (137):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 282
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HGVS dbSNP
GRCh37/hg19 12p11.21(chr12:32717818-32778686)x4
NC_000005.9:g.(?_110077728)_(110083984_?)dup
NC_000007.14:g.(?_76303782)_(76304193_?)del
NC_000009.11:g.(130264298_130265053)_(130265271_?)del
NC_000009.12:g.(?_127502764)_(127502909_?)del
NC_000011.10:g.(?_9780408)_(10042991_?)del
NM_000166.6(GJB1):c.-16-2A>G rs751230398
NM_000166.6(GJB1):c.109G>C (p.Val37Leu)
NM_000166.6(GJB1):c.118G>T (p.Ala40Ser) rs1602348782
NM_000166.6(GJB1):c.14G>T (p.Gly5Val) rs1064793139
NM_000166.6(GJB1):c.425G>A (p.Arg142Gln) rs786204123
NM_000166.6(GJB1):c.467T>A (p.Leu156His)
NM_000166.6(GJB1):c.50C>G (p.Ser17Cys) rs1555937009
NM_000166.6(GJB1):c.538T>C (p.Phe180Leu) rs1602349603
NM_000166.6(GJB1):c.547C>T (p.Arg183Cys) rs863224471
NM_000166.6(GJB1):c.65G>A (p.Arg22Gln) rs1060501002
NM_000166.6(GJB1):c.72G>C (p.Trp24Cys)
NM_000166.6(GJB1):c.73C>T (p.Leu25Phe) rs1602348662
NM_000166.6(GJB1):c.83T>A (p.Ile28Asn) rs768834663
NM_000188.3(HK1):c.1370C>T (p.Thr457Met) rs1057517928
NM_000263.4(NAGLU):c.1834A>G (p.Ser612Gly) rs148881970
NM_000263.4(NAGLU):c.1946G>A (p.Trp649Ter) rs527236038
NM_000263.4(NAGLU):c.2116C>T (p.Gln706Ter) rs752527478
NM_000263.4(NAGLU):c.531+1G>A
NM_000304.4(PMP22):c.170C>G (p.Ser57Ter)
NM_000304.4(PMP22):c.199G>A (p.Ala67Thr) rs104894623
NM_000304.4(PMP22):c.235T>A (p.Ser79Thr) rs863225027
NM_000304.4(PMP22):c.255C>A (p.Cys85Ter)
NM_000304.4(PMP22):c.281dup (p.Arg95fs) rs80338763
NM_000304.4(PMP22):c.392C>G (p.Ser131Cys) rs1597597627
NM_000304.4(PMP22):c.420G>A (p.Trp140Ter) rs1597597527
NM_000304.4(PMP22):c.469C>T (p.Arg157Trp) rs28936682
NM_000304.4(PMP22):c.78+3G>T rs1597635528
NM_000371.4(TTR):c.190T>C (p.Phe64Leu) rs138065384
NM_000371.4(TTR):c.252T>G (p.Phe84Leu)
NM_000530.8(MPZ):c.103G>T (p.Asp35Tyr) rs121913596
NM_000530.8(MPZ):c.188C>T (p.Ser63Phe) rs121913585
NM_000530.8(MPZ):c.301T>C (p.Trp101Arg) rs1060503423
NM_000530.8(MPZ):c.314C>T (p.Pro105Leu) rs786204215
NM_000530.8(MPZ):c.397C>A (p.Pro133Thr) rs1553259648
NM_000530.8(MPZ):c.398C>T (p.Pro133Leu) rs1558154010
NM_000530.8(MPZ):c.418T>A (p.Ser140Thr) rs572010627
NM_000530.8(MPZ):c.434A>G (p.Tyr145Cys) rs121913603
NM_000530.8(MPZ):c.435T>A (p.Tyr145Ter) rs1571818632
NM_000530.8(MPZ):c.448+2T>G
NM_000530.8(MPZ):c.451C>A (p.Pro151Thr) rs754068936
NM_000530.8(MPZ):c.549G>A (p.Trp183Ter)
NM_000530.8(MPZ):c.703_705AAG[1] (p.Lys236del) rs755446743
NM_001005360.2(DNM2):c.1105C>T (p.Arg369Trp) rs121909090
NM_001005360.2(DNM2):c.1463C>G (p.Thr488Arg) rs746903992
NM_001005361.2(DNM2):c.1241A>G (p.Lys414Arg) rs199927590
NM_001127660.1(MFN2):c.154G>A (p.Glu52Lys) rs1553141017
NM_001127660.1(MFN2):c.1946G>C (p.Arg649Pro) rs763492075
NM_001127660.1(MFN2):c.479T>G (p.Val160Gly) rs879253861
NM_001127660.1(MFN2):c.526G>A (p.Gly176Ser) rs879253862
NM_001127660.1(MFN2):c.720C>G (p.Phe240Leu) rs864622480
NM_001127660.1(MFN2):c.827A>G (p.Gln276Arg) rs119103264
NM_001136473.1(LITAF):c.146C>T (p.Thr49Met) rs141862602
NM_001136473.1(LITAF):c.331G>A (p.Ala111Thr) rs1324125372
NM_001136473.1(LITAF):c.344C>A (p.Thr115Asn) rs104894520
NM_001190716.2(DNM2):c.1021G>A (p.Glu341Lys) rs864309705
NM_001190716.2(DNM2):c.1072G>A (p.Gly358Arg) rs267606772
NM_001303256.3(MORC2):c.263C>T (p.Ala88Val) rs1602499659
NM_001303256.3(MORC2):c.707A>G (p.Glu236Gly) rs886037934
NM_001303256.3(MORC2):c.956G>A (p.Arg319His) rs1163530787
NM_001376.5(DYNC1H1):c.10160T>C (p.Leu3387Pro) rs1567019064
NM_001376.5(DYNC1H1):c.1678G>A (p.Val560Met)
NM_001376.5(DYNC1H1):c.1700G>A (p.Arg567His) rs587781253
NM_001376.5(DYNC1H1):c.1792C>T (p.Arg598Cys) rs587780564
NM_001376.5(DYNC1H1):c.1912G>A (p.Val638Ile) rs1383117534
NM_001376.5(DYNC1H1):c.3961-2A>G rs1595608413
NM_001376.5(DYNC1H1):c.587T>G (p.Leu196Trp) rs1595597572
NM_001376.5(DYNC1H1):c.5885G>A (p.Arg1962His) rs1057518287
NM_001376.5(DYNC1H1):c.944G>A (p.Ser315Asn) rs1595597963
NM_001376.5(DYNC1H1):c.9790C>A (p.Leu3264Met) rs373682811
NM_001540.5(HSPB1):c.165_171dup (p.Leu58fs) rs748762287
NM_001540.5(HSPB1):c.380G>T (p.Arg127Leu) rs587781250
NM_001540.5(HSPB1):c.438dup (p.Gly147fs)
NM_001540.5(HSPB1):c.522_523delinsCT (p.Gln175Ter) rs1060503021
NM_001540.5(HSPB1):c.532G>T (p.Glu178Ter) rs150110356
NM_001540.5(HSPB1):c.570G>C (p.Gln190His)
NM_001605.2(AARS1):c.328T>C (p.Phe110Leu) rs1555542415
NM_002047.4(GARS1):c.1100A>G (p.Asn367Ser) rs192443850
NM_002047.4(GARS1):c.647A>G (p.His216Arg) rs768987322
NM_002047.4(GARS1):c.998A>T (p.Glu333Val) rs863224873
NM_002109.6(HARS1):c.397G>T (p.Val133Phe) rs1554107200
NM_002109.6(HARS1):c.90+1G>C rs1554109203
NM_002180.2(IGHMBP2):c.1060G>A (p.Gly354Ser) rs886043773
NM_002180.2(IGHMBP2):c.1156T>C (p.Trp386Arg) rs759641927
NM_002180.2(IGHMBP2):c.1478C>T (p.Thr493Ile) rs780594709
NM_002180.2(IGHMBP2):c.1488C>A (p.Cys496Ter) rs145226920
NM_002180.2(IGHMBP2):c.1523C>T (p.Ser508Leu) rs754465226
NM_002180.2(IGHMBP2):c.1633-2A>G rs1566445029
NM_002180.2(IGHMBP2):c.1693G>A (p.Asp565Asn) rs770111639
NM_002180.2(IGHMBP2):c.1738G>A (p.Val580Ile) rs137852667
NM_002180.2(IGHMBP2):c.1808G>A (p.Arg603His) rs151079750
NM_002180.2(IGHMBP2):c.257-2A>G rs1566424655
NM_002180.2(IGHMBP2):c.2T>C (p.Met1Thr) rs886037759
NM_002180.2(IGHMBP2):c.449+1G>T rs797044802
NM_002180.2(IGHMBP2):c.547+1G>A rs1057518588
NM_002180.2(IGHMBP2):c.791G>T (p.Arg264Leu) rs777575504
NM_002180.3(IGHMBP2):c.1061-1G>C
NM_002180.3(IGHMBP2):c.1236-1G>T
NM_002180.3(IGHMBP2):c.2909_2910AG[1] (p.Arg971fs) rs724159994
NM_002180.3(IGHMBP2):c.978_982AAGAA[1] (p.Lys328fs) rs746581714
NM_002437.5(MPV17):c.122G>A (p.Arg41Gln) rs140992482
NM_002437.5(MPV17):c.263_265delinsTGT (p.Lys88_Met89delinsMetLeu)
NM_002437.5(MPV17):c.376-9T>G rs368900406
NM_002677.5(PMP2):c.155T>C (p.Ile52Thr) rs1563518388
NM_002972.4(SBF1):c.1327G>A (p.Asp443Asn) rs690016543
NM_002972.4(SBF1):c.2154_2155del (p.Asp719fs) rs1569512576
NM_002972.4(SBF1):c.3826+1G>A rs1009209509
NM_002972.4(SBF1):c.4378T>G (p.Leu1460Val) rs1404020990
NM_003680.3(YARS1):c.586G>C (p.Glu196Gln) rs121908834
NM_003681.5(PDXK):c.225T>A (p.Asn75Lys) rs1601814238
NM_004082.4(DCTN1):c.3558G>A (p.Met1186Ile) rs200834352
NM_004208.4(AIFM1):c.1388G>T (p.Arg463Ile) rs202219398
NM_004281.3(BAG3):c.626C>T (p.Pro209Leu) rs121918312
NM_005340.7(HINT1):c.112T>C (p.Cys38Arg) rs762701283
NM_005340.7(HINT1):c.289G>A (p.Val97Met) rs1554088064
NM_005340.7(HINT1):c.2T>C (p.Met1Thr) rs1580686455
NM_006070.6(TFG):c.826T>C (p.Tyr276His) rs1559726842
NM_006096.3(NDRG1):c.326+1G>A rs1586446057
NM_006096.4(NDRG1):c.450+2_450+3del
NM_006096.4(NDRG1):c.595-2A>T
NM_006096.4(NDRG1):c.891+2T>C
NM_006096.4(NDRG1):c.944-1G>T rs1588216753
NM_006158.4(NEFL):c.743A>C (p.Asp248Ala) rs927119938
NM_006158.4(NEFL):c.796G>A (p.Glu266Lys) rs1411999109
NM_006158.4(NEFL):c.837G>A (p.Trp279Ter) rs1586128169
NM_006158.5(NEFL):c.541G>T (p.Glu181Ter)
NM_006158.5(NEFL):c.993_994insT (p.Gln332fs)
NM_006158.5(NEFL):c.999_1004delinsTGTCG (p.Gln334fs)
NM_006329.3(FBLN5):c.1117C>T (p.Arg373Cys) rs864309526
NM_007287.3(MME):c.1666C>T (p.Pro556Ser) rs1559961997
NM_007287.3(MME):c.1972G>A (p.Ala658Thr) rs1559963660
NM_007289.4(MME):c.202C>T (p.Arg68Ter)
NM_014629.4(ARHGEF10):c.1013G>C (p.Arg338Thr) rs587777712
NM_014845.5(FIG4):c.2467C>T (p.Gln823Ter) rs745790694
NM_014845.5(FIG4):c.498-2A>G rs1554300952
NM_014845.6(FIG4):c.1749_1750+7del
NM_014845.6(FIG4):c.1890-2A>G
NM_014845.6(FIG4):c.447-2A>C
NM_014874.3(MFN2):c.1085C>T (p.Thr362Met) rs387906991
NM_014874.3(MFN2):c.1126A>G (p.Met376Val) rs863224967
NM_014874.3(MFN2):c.1252C>T (p.Arg418Ter) rs1057517987
NM_014874.3(MFN2):c.1426C>G (p.Arg476Gly) rs1266361856
NM_014874.3(MFN2):c.1555C>T (p.Arg519Cys) rs369140232
NM_014874.3(MFN2):c.1839dup (p.Thr614fs) rs1553145402
NM_014874.3(MFN2):c.2119C>T (p.Arg707Trp) rs119103267
NM_014874.3(MFN2):c.2146G>A (p.Ala716Thr) rs144860227
NM_014874.3(MFN2):c.334G>A (p.Val112Met) rs757937208
NM_014874.3(MFN2):c.404G>A (p.Arg135Gln) rs1443036026
NM_014874.3(MFN2):c.436C>T (p.Leu146Phe) rs863224969
NM_014874.3(MFN2):c.497C>T (p.Ala166Val) rs1557522849
NM_014874.3(MFN2):c.572T>C (p.Leu191Pro) rs879254288
NM_014874.3(MFN2):c.653T>C (p.Leu218Pro) rs879253925
NM_014874.3(MFN2):c.775C>T (p.Arg259Cys) rs587777875
NM_014874.4(MFN2):c.1091G>T (p.Arg364Leu) rs879254011
NM_014874.4(MFN2):c.272T>G (p.Val91Gly) rs1569816262
NM_014874.4(MFN2):c.616A>G (p.Thr206Ala) rs1569842296
NM_014874.4(MFN2):c.638T>A (p.Ile213Asn) rs1557524703
NM_014874.4(MFN2):c.701T>A (p.Met234Lys)
NM_014874.4(MFN2):c.839G>C (p.Arg280Pro) rs28940294
NM_015074.3(KIF1B):c.881A>G (p.Lys294Arg) rs373698346
NM_015271.5(TRIM2):c.2000A>C (p.Asp667Ala) rs879253863
NM_015548.5(DST):c.3319-2694A>G rs373440035
NM_015560.2(OPA1):c.1346del (p.Thr449fs) rs794729196
NM_016156.5(MTMR2):c.804+1G>C rs1565351898
NM_016156.5(MTMR2):c.804+2T>G rs1555061026
NM_016156.5(MTMR2):c.993+1G>A rs1555060614
NM_016156.6(MTMR2):c.463T>C (p.Cys155Arg)
NM_016156.6(MTMR2):c.766_767del (p.Lys256fs) rs769429967
NM_018706.7(DHTKD1):c.1543C>A (p.Pro515Thr) rs762729182
NM_018706.7(DHTKD1):c.2500C>T (p.Arg834Ter) rs770649540
NM_018972.4(GDAP1):c.112C>T (p.Gln38Ter) rs761035569
NM_018972.4(GDAP1):c.272_274delinsTTT (p.Thr91_Gln92delinsIleTer)
NM_018972.4(GDAP1):c.311-1790_408del
NM_018972.4(GDAP1):c.355C>A (p.Pro119Thr) rs936681187
NM_018972.4(GDAP1):c.376G>A (p.Glu126Lys) rs879254005
NM_018972.4(GDAP1):c.458C>T (p.Pro153Leu) rs538412810
NM_018972.4(GDAP1):c.487C>T (p.Gln163Ter) rs104894077
NM_018972.4(GDAP1):c.692C>T (p.Pro231Leu) rs121908114
NM_018972.4(GDAP1):c.811G>A (p.Gly271Arg) rs775622226
NM_018972.4(GDAP1):c.917C>T (p.Pro306Leu) rs1586807529
NM_020631.5(PLEKHG5):c.440-2A>G rs144750655
NM_020680.4(SCYL1):c.1386+1G>T
NM_020680.4(SCYL1):c.1412C>T (p.Ala471Val) rs1554969894
NM_020956.2(PRX):c.*2494del rs797045102
NM_020956.2(PRX):c.*3491_*3561del rs1555800610
NM_020956.2(PRX):c.165_177dup (p.Gln60fs) rs1599662669
NM_021076.4(NEFH):c.883+1G>C rs1602961831
NM_021625.4(TRPV4):c.1858G>A (p.Val620Ile) rs121912633
NM_021625.4(TRPV4):c.557G>A (p.Arg186Gln) rs397514494
NM_021625.4(TRPV4):c.710G>T (p.Arg237Leu) rs1289139464
NM_021625.4(TRPV4):c.806G>A (p.Arg269His) rs267607144
NM_021625.4(TRPV4):c.832G>A (p.Glu278Lys) rs267607148
NM_021625.4(TRPV4):c.935C>T (p.Ala312Val) rs751139506
NM_021625.5(TRPV4):c.1846C>T (p.Arg616Ter)
NM_021629.4(GNB4):c.158G>A (p.Gly53Asp) rs387907340
NM_021629.4(GNB4):c.169A>G (p.Lys57Glu)
NM_021629.4(GNB4):c.265A>G (p.Lys89Glu) rs387907341
NM_021629.4(GNB4):c.659A>G (p.Gln220Arg) rs199615251
NM_022489.4(INF2):c.226CTG[2] (p.Leu78del)
NM_022489.4(INF2):c.311G>A (p.Cys104Tyr) rs387907035
NM_022489.4(INF2):c.314T>A (p.Val105Glu) rs1555373363
NM_024577.3(SH3TC2):c.1585_1587delinsTGG (p.Arg529Trp) rs863224781
NM_024577.3(SH3TC2):c.1972C>T (p.Arg658Cys) rs80338926
NM_024577.3(SH3TC2):c.1A>G (p.Met1Val) rs864309709
NM_024577.3(SH3TC2):c.2640del (p.Asn881fs) rs1561764569
NM_024577.3(SH3TC2):c.279+1G>A rs1198337036
NM_024577.3(SH3TC2):c.280-2A>G rs1561770798
NM_024577.3(SH3TC2):c.3054-2A>C rs1580891465
NM_024577.3(SH3TC2):c.3328-1G>T rs1554120331
NM_024577.3(SH3TC2):c.3511C>T (p.Arg1171Cys) rs759785462
NM_024577.3(SH3TC2):c.3512G>T (p.Arg1171Leu) rs200728983
NM_024577.3(SH3TC2):c.385+2T>C rs773554464
NM_024577.3(SH3TC2):c.529+1G>A rs769410348
NM_024577.3(SH3TC2):c.806-1G>A rs1554122560
NM_024577.4(SH3TC2):c.1712T>C (p.Leu571Pro) rs1580900970
NM_024577.4(SH3TC2):c.2431C>T (p.Gln811Ter) rs1580900150
NM_024577.4(SH3TC2):c.2551_2554dup (p.Val852fs)
NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter) rs80338933
NM_024577.4(SH3TC2):c.3291del (p.Thr1098fs) rs1580889913
NM_024577.4(SH3TC2):c.3325C>T (p.Arg1109Ter) rs80338934
NM_024577.4(SH3TC2):c.386-2A>C rs145670786
NM_024577.4(SH3TC2):c.822_850dup (p.Lys284delinsArgProTer)
NM_025137.4(SPG11):c.5199del (p.Lys1733fs) rs779268551
NM_030962.3(SBF2):c.1297-2A>G rs752649372
NM_030962.3(SBF2):c.1395+1G>A
NM_030962.3(SBF2):c.1929+15398_2137del
NM_030962.3(SBF2):c.3110+2_3110+4delinsGAG
NM_030962.3(SBF2):c.3653-1G>A
NM_030962.3(SBF2):c.5037+1G>C
NM_030962.3:c.161G>A
NM_030973.3(MED25):c.316G>A (p.Gly106Arg) rs535472885
NM_030973.4(MED25):c.135-1G>A
NM_030973.4(MED25):c.1628_1637del (p.Asn543fs)
NM_032667.6(BSCL2):c.286C>A (p.Arg96Ser) rs772536764
NM_033500.2(HK1):c.-141A>G rs1589439508
NM_138361.5(LRSAM1):c.1016dup (p.Gln340fs)
NM_138361.5(LRSAM1):c.1043+1G>A
NM_138361.5(LRSAM1):c.1043+2T>G rs746455518
NM_138361.5(LRSAM1):c.1348-1G>A rs747659617
NM_138361.5(LRSAM1):c.1978_1979dup (p.Pro661fs)
NM_138361.5(LRSAM1):c.2003_2015del (p.Leu668fs) rs876661208
NM_138361.5(LRSAM1):c.2005G>T (p.Glu669Ter) rs1588143112
NM_138361.5(LRSAM1):c.2008del (p.Val670fs)
NM_138361.5(LRSAM1):c.2019dup (p.Glu674fs) rs1315010600
NM_138361.5(LRSAM1):c.2068T>C (p.Cys690Arg) rs879253755
NM_138361.5(LRSAM1):c.2102del (p.Gln701fs) rs1554763035
NM_138361.5(LRSAM1):c.2120C>T (p.Pro707Leu) rs797044913
NM_138361.5(LRSAM1):c.750+2T>G
NM_138361.5(LRSAM1):c.847_1088+563del
NM_138361.5(LRSAM1):c.904-2A>G
NM_138773.4(SLC25A46):c.736A>T (p.Arg246Ter) rs1554093168
NM_138773.4(SLC25A46):c.770G>A (p.Arg257Gln) rs1184021143
NM_138773.4(SLC25A46):c.779C>T (p.Pro260Leu) rs1580870705
NM_138773.4(SLC25A46):c.799_800dup (p.Thr268fs)
NM_138773.4(SLC25A46):c.955G>C (p.Ala319Pro) rs1390567933
NM_139241.3(FGD4):c.1833_1902+238delinsGGAGG
NM_139241.3(FGD4):c.494dup (p.Leu167fs) rs1592294998
NM_152296.5(ATP1A3):c.2224G>T (p.Asp742Tyr) rs1135401822
NM_152296.5(ATP1A3):c.2266C>T (p.Arg756Cys) rs1064797245
NM_152296.5(ATP1A3):c.2543G>C (p.Gly848Ala) rs1599705281
NM_152296.5(ATP1A3):c.2839G>T (p.Gly947Trp) rs398122887
NM_152296.5(ATP1A3):c.460A>G (p.Met154Val) rs1135401821
NM_152296.5(ATP1A3):c.974G>A (p.Gly325Asp) rs863224847
NM_170707.4(LMNA):c.1195C>T (p.Arg399Cys) rs58672172
NM_170707.4(LMNA):c.1609-3C>G rs267607581
NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys) rs142000963
NM_181882.3(PRX):c.122_124delinsAAGCTGCGCGAGGAAGCTGC (p.Gly41fs)
NM_181882.3(PRX):c.122del (p.Gly41fs)
NM_181882.3(PRX):c.184+2T>C
NM_181882.3(PRX):c.27+1G>T
NM_181882.3(PRX):c.2T>C (p.Met1Thr)
NM_181882.3(PRX):c.3085A>T (p.Arg1029Ter) rs1599651726
NM_181882.3(PRX):c.3198del (p.Phe1066fs) rs1599651549
NM_181882.3(PRX):c.4003C>T (p.Arg1335Ter)
NM_201278.3(MTMR2):c.1662_1663AG[6] (p.Ala557fs) rs751292488
NM_205836.3(FBXO38):c.931C>A (p.Leu311Ile) rs142117467
Single allele

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