ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease axonal type 2T

Included ClinVar conditions (3):
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Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_007289.4(MME):c.2133G>A (p.Val711=) rs61760409 0.00518
NM_007289.4(MME):c.1255A>C (p.Met419Leu) rs34931605 0.00459
NM_007289.4(MME):c.1040A>G (p.Tyr347Cys) rs138218277 0.00064
NM_007289.4(MME):c.1154G>A (p.Arg385Gln) rs200791566 0.00003
NM_007289.4(MME):c.1904G>A (p.Gly635Asp) rs151302020 0.00003
NM_007289.4(MME):c.1497+1G>C rs1395068713 0.00002
NM_007289.4(MME):c.1914+1G>A rs1003705057 0.00002
NM_007289.4(MME):c.307C>T (p.Arg103Cys) rs765422392 0.00002
NM_007289.4(MME):c.1265C>A (p.Ala422Asp) rs777476150 0.00001
NM_007289.4(MME):c.1313_1314del (p.His438fs) rs765778616 0.00001
NM_007289.4(MME):c.1511A>T (p.Glu504Val) rs201239248 0.00001
NM_007289.4(MME):c.1574A>C (p.Lys525Thr) rs1356844489 0.00001
NM_007289.4(MME):c.1735G>A (p.Gly579Ser) rs767928746 0.00001
NM_007289.4(MME):c.1781-2A>G rs765231758 0.00001
NM_007289.4(MME):c.202C>T (p.Arg68Ter) rs201692212 0.00001
NM_007289.4(MME):c.2072C>T (p.Ala691Val) rs1414684441 0.00001
NM_007289.4(MME):c.389T>C (p.Ile130Thr) rs200313798 0.00001
NM_007289.4(MME):c.440-2A>C rs200435950 0.00001
NM_007289.4(MME):c.516A>T (p.Glu172Asp) rs201333758 0.00001
NM_007289.4(MME):c.655-2A>G rs765591205 0.00001
NM_006736.6(DNAJB2):c.343G>T (p.Glu115Ter) rs797045039
NM_007289.4(MME):c.1119_1127del (p.Trp373_Ile376delinsTer)
NM_007289.4(MME):c.1272del (p.Arg425fs) rs1060499935
NM_007289.4(MME):c.1400dup (p.Arg468fs) rs751149568
NM_007289.4(MME):c.1564C>T (p.Gln522Ter) rs1553765316
NM_007289.4(MME):c.1666C>T (p.Pro556Ser) rs1559961997
NM_007289.4(MME):c.1861T>C (p.Cys621Arg) rs879253752
NM_007289.4(MME):c.1892G>A (p.Trp631Ter)
NM_007289.4(MME):c.1972G>A (p.Ala658Thr) rs1559963660
NM_007289.4(MME):c.2050C>T (p.Gln684Ter) rs200678412
NM_007289.4(MME):c.329T>G (p.Leu110Ter)
NM_007289.4(MME):c.439+2T>A rs1057519024
NM_007289.4(MME):c.467del (p.Pro156fs) rs749320057
NM_007289.4(MME):c.531del (p.Lys177fs) rs1190163112
NM_007289.4(MME):c.536-1G>A
NM_007289.4(MME):c.654+1G>A rs1057519023
NM_007289.4(MME):c.655-4A>G
NM_007289.4(MME):c.661C>T (p.Gln221Ter) rs879253751
NM_007289.4(MME):c.716_717del (p.Lys239fs) rs2108261555
NM_007289.4(MME):c.71G>A (p.Trp24Ter) rs886039755
NM_007289.4(MME):c.917C>T (p.Ala306Val) rs1407756399

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