ClinVar Miner

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

Included ClinVar conditions (130):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 138
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HGVS dbSNP
GRCh37/hg19 12p11.21(chr12:32717818-32778686)x4
NC_000001.10:g.161275598_161279773dup
NC_000005.9:g.(?_110077728)_(110083984_?)dup
NC_000007.13:g.(?_75933099)_(75933510_?)del
NC_000007.13:g.(?_75933119)_(75933490_?)del
NC_000009.11:g.(130264298_130265053)_(130265271_?)del
NC_000011.9:g.(?_9801955)_(10064538_?)del
NC_000014.9:g.101979787T>G
NM_000166.6(GJB1):c.-16-2A>G rs751230398
NM_000166.6(GJB1):c.425G>A (p.Arg142Gln) rs786204123
NM_000166.6(GJB1):c.50C>G (p.Ser17Cys) rs1555937009
NM_000166.6(GJB1):c.547C>T (p.Arg183Cys) rs863224471
NM_000263.4(NAGLU):c.1834A>G (p.Ser612Gly) rs148881970
NM_000263.4(NAGLU):c.1900G>A (p.Glu634Lys) rs147036053
NM_000263.4(NAGLU):c.1946G>A (p.Trp649Ter)
NM_000304.4(PMP22):c.235T>A (p.Ser79Thr) rs863225027
NM_000530.8(MPZ):c.397C>A (p.Pro133Thr) rs1553259648
NM_000530.8(MPZ):c.398C>T (p.Pro133Leu)
NM_000530.8(MPZ):c.451C>A (p.Pro151Thr)
NM_000902.4(MME):c.1666C>T (p.Pro556Ser) rs1559961997
NM_000902.4(MME):c.1972G>A (p.Ala658Thr) rs1559963660
NM_001005360.2(DNM2):c.1021G>A (p.Glu341Lys) rs864309705
NM_001005360.2(DNM2):c.1072G>A (p.Gly358Arg) rs267606772
NM_001005360.2(DNM2):c.1463C>G (p.Thr488Arg)
NM_001005360.2(DNM2):c.1609G>A (p.Gly537Ser) rs121909093
NM_001005360.2(DNM2):c.1853C>A (p.Ala618Asp) rs1555715869
NM_001005361.2(DNM2):c.1241A>G (p.Lys414Arg) rs199927590
NM_001130067.2(TRIM2):c.1919A>C (p.Asp640Ala) rs879253863
NM_001136473.1(LITAF):c.146C>T (p.Thr49Met) rs141862602
NM_001136473.1(LITAF):c.331G>A (p.Ala111Thr)
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.1700G>A (p.Arg567His) rs587781253
NM_001376.5(DYNC1H1):c.1792C>T (p.Arg598Cys) rs587780564
NM_001376.5(DYNC1H1):c.5885G>A (p.Arg1962His) rs1057518287
NM_001376.5(DYNC1H1):c.752G>A (p.Arg251His) rs794727634
NM_001540.5(HSPB1):c.407G>T (p.Arg136Leu) rs863225022
NM_001540.5(HSPB1):c.45C>A (p.Ser15Arg) rs780878780
NM_001540.5(HSPB1):c.522_523delinsCT (p.Gln175Ter) rs1060503021
NM_001540.5(HSPB1):c.532G>T (p.Glu178Ter) rs150110356
NM_001605.2(AARS1):c.328T>C (p.Phe110Leu) rs1555542415
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)
NM_002180.2(IGHMBP2):c.1478C>T (p.Thr493Ile) rs780594709
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.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_002180.2(IGHMBP2):c.978_982AAGAA[1] (p.Lys328fs) rs746581714
NM_002972.4(SBF1):c.1327G>A (p.Asp443Asn) rs690016543
NM_002972.4(SBF1):c.2154_2155del (p.Asp719fs) rs1569512576
NM_003680.3(YARS1):c.586G>C (p.Glu196Gln) rs121908834
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)
NM_006096.3(NDRG1):c.326+1G>A
NM_006158.4(NEFL):c.796G>A (p.Glu266Lys) rs1411999109
NM_006329.3(FBLN5):c.1117C>T (p.Arg373Cys) rs864309526
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_014874.3(MFN2):c.1085C>T (p.Thr362Met) rs387906991
NM_014874.3(MFN2):c.1126A>G (p.Met376Val) rs863224967
NM_014874.3(MFN2):c.1426C>G (p.Arg476Gly) rs1266361856
NM_014874.3(MFN2):c.154G>A (p.Glu52Lys) rs1553141017
NM_014874.3(MFN2):c.1555C>T (p.Arg519Cys) rs369140232
NM_014874.3(MFN2):c.1839dup (p.Thr614fs) rs1553145402
NM_014874.3(MFN2):c.1946G>C (p.Arg649Pro) rs763492075
NM_014874.3(MFN2):c.2119C>T (p.Arg707Trp) rs119103267
NM_014874.3(MFN2):c.334G>A (p.Val112Met)
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.479T>G (p.Val160Gly) rs879253861
NM_014874.3(MFN2):c.526G>A (p.Gly176Ser) rs879253862
NM_014874.3(MFN2):c.653T>C (p.Leu218Pro) rs879253925
NM_014874.3(MFN2):c.720C>G (p.Phe240Leu) rs864622480
NM_015074.3(KIF1B):c.881A>G (p.Lys294Arg) rs373698346
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_018706.7(DHTKD1):c.1543C>A (p.Pro515Thr) rs762729182
NM_018706.7(DHTKD1):c.2500C>T (p.Arg834Ter) rs770649540
NM_018972.4(GDAP1):c.1019dup (p.Arg341fs) rs756461496
NM_018972.4(GDAP1):c.311-1790_408del
NM_018972.4(GDAP1):c.399G>A (p.Met133Ile) rs139808557
NM_018972.4(GDAP1):c.458C>T (p.Pro153Leu) rs538412810
NM_020631.5(PLEKHG5):c.440-2A>G rs144750655
NM_020680.4(SCYL1):c.1412C>T (p.Ala471Val) rs1554969894
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_021629.4(GNB4):c.659A>G (p.Gln220Arg) rs199615251
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.1972C>T (p.Arg658Cys) rs80338926
NM_024577.3(SH3TC2):c.1A>G (p.Met1Val) rs864309709
NM_024577.3(SH3TC2):c.2431C>T
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.2860C>T (p.Arg954Ter) rs80338933
NM_024577.3(SH3TC2):c.3054-2A>C
NM_024577.3(SH3TC2):c.3328-1G>T rs1554120331
NM_024577.3(SH3TC2):c.3511C>T (p.Arg1171Cys) rs759785462
NM_024577.3(SH3TC2):c.385+2T>C rs773554464
NM_024577.3(SH3TC2):c.529+1G>A
NM_024577.3(SH3TC2):c.806-1G>A rs1554122560
NM_030962.3(SBF2):c.1297-2A>G
NM_030962.3(SBF2):c.1929+15398_2137del
NM_030962.3(SBF2):c.5037+1G>A rs1060499999
NM_033500.2(HK1):c.1334C>T (p.Thr445Met) rs1057517928
NM_138361.5(LRSAM1):c.1043+2T>G
NM_138361.5(LRSAM1):c.2003_2015del (p.Leu668fs) rs876661208
NM_138361.5(LRSAM1):c.2068T>C (p.Cys690Arg) rs879253755
NM_138361.5(LRSAM1):c.2080T>C (p.Cys694Arg) rs759312530
NM_138361.5(LRSAM1):c.2102del (p.Gln701fs) rs1554763035
NM_138361.5(LRSAM1):c.847_1088+563del
NM_138773.4(SLC25A46):c.736A>T (p.Arg246Ter) rs1554093168
NM_138773.4(SLC25A46):c.770G>A (p.Arg257Gln) rs1184021143
NM_152296.5(ATP1A3):c.2224G>T (p.Asp742Tyr) rs1135401822
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.1930C>T (p.Arg644Cys) rs142000963
NM_181882.2(PRX):c.2289del (p.Asp765fs) rs797045102
Single allele

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