ClinVar Miner

List of variants reported as pathogenic for Charcot-Marie-Tooth disease by Inherited Neuropathy Consortium

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Total variants: 45
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HGVS dbSNP
NM_000166.6(GJB1):c.576del (p.Phe193fs) rs1602349692
NM_000166.6(GJB1):c.629_632del (p.Val210fs) rs1602349779
NM_000166.6(GJB1):c.772del (p.Ser258fs) rs1602349940
NM_000166.6(GJB1):c.785_786del (p.Ile262fs) rs1602349962
NM_000166.6(GJB1):c.800del (p.Pro267fs) rs1602350003
NM_000166.6(GJB1):c.822del (p.Glu275fs) rs1602350029
NM_000166.6(GJB1):c.844dup (p.Ala282fs) rs1602350062
NM_000304.4(PMP22):c.138del (p.Ser47fs) rs864622180
NM_000304.4(PMP22):c.256C>T (p.Gln86Ter) rs11545341
NM_000304.4(PMP22):c.76del (p.Ser26fs) rs1597635540
NM_000530.8(MPZ):c.129_136del (p.Ser44fs) rs760730366
NM_000530.8(MPZ):c.197G>A (p.Trp66Ter) rs1571819946
NM_000530.8(MPZ):c.1A>G (p.Met1Val) rs1427063795
NM_000530.8(MPZ):c.204C>A (p.Tyr68Ter) rs1571819906
NM_000530.8(MPZ):c.256C>T (p.Gln86Ter) rs1553259703
NM_000530.8(MPZ):c.434_437del (p.Tyr145fs) rs1553259643
NM_000530.8(MPZ):c.486del (p.Ile162fs) rs1571818248
NM_000530.8(MPZ):c.560del (p.Gln187fs) rs1571817966
NM_000530.8(MPZ):c.574_575del (p.Arg192fs) rs1571817911
NM_000530.8(MPZ):c.646-10_650del rs863225026
NM_000530.8(MPZ):c.68-5_71del rs1571820401
NM_001540.5(HSPB1):c.171_172insGCGCCCT (p.Leu58fs) rs1583964560
NM_001540.5(HSPB1):c.505del (p.Met169fs) rs1583966508
NM_002047.4(GARS1):c.1031+1G>A rs1554338272
NM_002047.4(GARS1):c.1809+1G>A rs1554340340
NM_004715.4(CTDP1):c.863+389C>T rs113994102
NM_014845.6(FIG4):c.2299dup (p.Glu767fs) rs1191997383
NM_014874.3(MFN2):c.1392+1G>A rs1569861708
NM_014874.3(MFN2):c.2037C>G (p.Tyr679Ter) rs1569871830
NM_014874.3(MFN2):c.839G>A (p.Arg280His) rs28940294
NM_018972.4(GDAP1):c.1019dup (p.Arg341fs) rs756461496
NM_018972.4(GDAP1):c.116del (p.Lys39fs) rs778547659
NM_018972.4(GDAP1):c.1A>T (p.Met1Leu) rs1474390668
NM_018972.4(GDAP1):c.501del (p.Glu168fs) rs886041386
NM_018972.4(GDAP1):c.928del (p.Arg310fs) rs1586807541
NM_020956.2(PRX):c.*2069C>T rs1210729449
NM_020956.2(PRX):c.124_125dup (p.Phe43fs) rs1599662837
NM_024577.3(SH3TC2):c.1378C>T (p.Gln460Ter) rs1580901350
NM_024577.3(SH3TC2):c.1384G>T (p.Glu462Ter) rs749850181
NM_024577.3(SH3TC2):c.3303del (p.Arg1101fs) rs864622664
NM_024577.3(SH3TC2):c.524del (p.Gln175fs) rs1561770179
NM_024577.3(SH3TC2):c.957del (p.Phe320fs) rs1554122541
NM_024577.4(SH3TC2):c.2989del (p.Arg997fs) rs1174949678
NM_024577.4(SH3TC2):c.688del (p.Val230fs) rs775740308
NM_181882.3(PRX):c.1173del (p.Arg392fs) rs757771239

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