ClinVar Miner

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

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ClinVar version:
Total variants: 90
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HGVS dbSNP gnomAD frequency
NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys) rs142000963 0.00117
NM_001136472.2(LITAF):c.146C>T (p.Thr49Met) rs141862602 0.00086
NM_205836.3(FBXO38):c.931C>A (p.Leu311Ile) rs142117467 0.00044
NM_014874.4(MFN2):c.2146G>A (p.Ala716Thr) rs144860227 0.00032
NM_002047.4(GARS1):c.1100A>G (p.Asn367Ser) rs192443850 0.00024
NM_000371.4(TTR):c.190T>C (p.Phe64Leu) rs138065384 0.00019
NM_018972.4(GDAP1):c.487C>T (p.Gln163Ter) rs104894077 0.00015
NM_018972.4(GDAP1):c.692C>T (p.Pro231Leu) rs121908114 0.00015
NM_001005361.3(DNM2):c.1241A>G (p.Lys414Arg) rs199927590 0.00011
NM_001365951.3(KIF1B):c.899A>G (p.Lys300Arg) rs373698346 0.00009
NM_004082.5(DCTN1):c.3558G>A (p.Met1186Ile) rs200834352 0.00009
NM_001540.5(HSPB1):c.380G>T (p.Arg127Leu) rs587781250 0.00003
NM_014874.4(MFN2):c.1085C>T (p.Thr362Met) rs387906991 0.00003
NM_024577.4(SH3TC2):c.1972C>T (p.Arg658Cys) rs80338926 0.00003
NM_024577.4(SH3TC2):c.3325C>T (p.Arg1109Ter) rs80338934 0.00003
NM_024577.4(SH3TC2):c.3512G>T (p.Arg1171Leu) rs200728983 0.00003
NM_006158.5(NEFL):c.743A>C (p.Asp248Ala) rs927119938 0.00002
NM_014629.4(ARHGEF10):c.1013G>C (p.Arg338Thr) rs587777712 0.00002
NM_181882.3(PRX):c.4003C>T (p.Arg1335Ter) rs559968504 0.00002
NM_000166.6(GJB1):c.14G>T (p.Gly5Val) rs1064793139 0.00001
NM_000166.6(GJB1):c.83T>A (p.Ile28Asn) rs768834663 0.00001
NM_000530.8(MPZ):c.418T>A (p.Ser140Thr) rs572010627 0.00001
NM_001005361.3(DNM2):c.1105C>T (p.Arg369Trp) rs121909090 0.00001
NM_001005373.4(LRSAM1):c.2019dup (p.Glu674fs) rs1315010600 0.00001
NM_001376.5(DYNC1H1):c.1912G>A (p.Val638Ile) rs1383117534 0.00001
NM_001723.7(DST):c.6289A>G (p.Thr2097Ala) rs373440035 0.00001
NM_002180.3(IGHMBP2):c.1273C>T (p.Arg425Cys) rs1303837541 0.00001
NM_002180.3(IGHMBP2):c.1808G>A (p.Arg603His) rs151079750 0.00001
NM_014845.6(FIG4):c.1949-10T>G rs896444437 0.00001
NM_024577.4(SH3TC2):c.2528G>T (p.Gly843Val) rs1463859150 0.00001
NM_024577.4(SH3TC2):c.3511C>T (p.Arg1171Cys) rs759785462 0.00001
NM_170707.4(LMNA):c.1195C>T (p.Arg399Cys) rs58672172 0.00001
NM_181882.3(PRX):c.2T>C (p.Met1Thr) rs1352237419 0.00001
NM_000166.6(GJB1):c.109G>C (p.Val37Leu) rs1057518946
NM_000166.6(GJB1):c.50C>G (p.Ser17Cys) rs1555937009
NM_000166.6(GJB1):c.72G>C (p.Trp24Cys) rs1602348658
NM_000166.6(GJB1):c.73C>T (p.Leu25Phe) rs1602348662
NM_000304.4(PMP22):c.170C>G (p.Ser57Ter) rs1909079392
NM_000304.4(PMP22):c.199G>A (p.Ala67Thr) rs104894623
NM_000304.4(PMP22):c.255C>A (p.Cys85Ter) rs755701957
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_000371.4(TTR):c.252T>G (p.Phe84Leu) rs2073510805
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.314C>T (p.Pro105Leu) rs786204215
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 rs1670257221
NM_000530.8(MPZ):c.549G>A (p.Trp183Ter) rs1670244293
NM_000530.8(MPZ):c.645G>A (p.Gln215=) rs1670232790
NM_000530.8(MPZ):c.703AAG[1] (p.Lys236del) rs755446743
NM_001005373.4(LRSAM1):c.1016dup (p.Gln340fs) rs1835476174
NM_001005373.4(LRSAM1):c.2008del (p.Val670fs) rs1836372698
NM_001005373.4(LRSAM1):c.2120C>T (p.Pro707Leu) rs797044913
NM_001005373.4(LRSAM1):c.750+2T>G rs76153575
NM_001005373.4(LRSAM1):c.904-2A>G rs1171946884
NM_001122955.4(BSCL2):c.478C>A (p.Arg160Ser) rs772536764
NM_001136472.2(LITAF):c.331G>A (p.Ala111Thr) rs1324125372
NM_001357.5(DHX9):c.710dup (p.Leu237fs)
NM_001376.5(DYNC1H1):c.1700G>A (p.Arg567His) rs587781253
NM_001376.5(DYNC1H1):c.752G>A (p.Arg251His) rs794727634
NM_001540.5(HSPB1):c.452C>T (p.Thr151Ile) rs28937568
NM_002180.3(IGHMBP2):c.1061-1G>C rs1859177429
NM_002180.3(IGHMBP2):c.2911_2912del (p.Arg971fs) rs724159994
NM_002972.4(SBF1):c.1327G>A (p.Asp443Asn) rs690016543
NM_002972.4(SBF1):c.5463C>G (p.Tyr1821Ter) rs144773853
NM_006070.6(TFG):c.826T>C (p.Tyr276His) rs1559726842
NM_006158.5(NEFL):c.541G>T (p.Glu181Ter) rs774653437
NM_006158.5(NEFL):c.993_994insT (p.Gln332fs) rs1803034177
NM_006158.5(NEFL):c.999_1004delinsTGTCG (p.Gln334fs) rs1803033886
NM_014874.4(MFN2):c.272T>G (p.Val91Gly) rs1569816262
NM_014874.4(MFN2):c.572T>C (p.Leu191Pro) rs879254288
NM_014874.4(MFN2):c.775C>T (p.Arg259Cys) rs587777875
NM_018972.4(GDAP1):c.112C>T (p.Gln38Ter) rs761035569
NM_018972.4(GDAP1):c.272_274delinsTTT (p.Thr91_Gln92delinsIleTer) rs1808869772
NM_021625.5(TRPV4):c.1858G>A (p.Val620Ile) rs121912633
NM_024577.4(SH3TC2):c.2551_2554dup (p.Val852fs) rs1754081385
NM_024577.4(SH3TC2):c.822_850dup (p.Lys284delinsArgProTer) rs1754319130
NM_025137.4(SPG11):c.969C>G (p.Tyr323Ter)
NM_030962.4(SBF2):c.1395+1G>A rs1947335024
NM_138773.4(SLC25A46):c.955G>C (p.Ala319Pro) rs1390567933
NM_170707.4(LMNA):c.1609-3C>G rs267607581
NM_181882.3(PRX):c.122_124delinsAAGCTGCGCGAGGAAGCTGC (p.Gly41fs) rs2079512694
NM_181882.3(PRX):c.122del (p.Gly41fs) rs2079512738
NM_181882.3(PRX):c.165_177dup (p.Gln60fs) rs1599662669
NM_181882.3(PRX):c.3198del (p.Phe1066fs) rs1599651549
Single allele

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