ClinVar Miner

List of variants in gene MME studied for hereditary peripheral neuropathy

Included ClinVar conditions (479):
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Gene type:
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Total variants: 54
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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.2067C>A (p.Asn689Lys) rs146536523 0.00009
NM_007289.4(MME):c.1154G>A (p.Arg385Gln) rs200791566 0.00003
NM_007289.4(MME):c.1580G>A (p.Arg527Gln) rs202008298 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.1520A>G (p.Tyr507Cys) rs367899772 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
NC_000003.11:g.(?_154798107)_(154802884_154832782)del
NM_007289.4(MME):c.1094+5G>T rs1048105813
NM_007289.4(MME):c.1119_1127del (p.Trp373_Ile376delinsTer)
NM_007289.4(MME):c.1229G>A (p.Arg410His)
NM_007289.4(MME):c.1272del (p.Arg425fs) rs1060499935
NM_007289.4(MME):c.1283T>G (p.Val428Gly)
NM_007289.4(MME):c.1400dup (p.Arg468fs) rs751149568
NM_007289.4(MME):c.1564C>T (p.Gln522Ter) rs1553765316
NM_007289.4(MME):c.1645G>T (p.Gly549Ter)
NM_007289.4(MME):c.1666C>T (p.Pro556Ser) rs1559961997
NM_007289.4(MME):c.1715C>A (p.Ser572Ter)
NM_007289.4(MME):c.1773T>A (p.Asp591Glu)
NM_007289.4(MME):c.1821G>A (p.Trp607Ter)
NM_007289.4(MME):c.1861T>C (p.Cys621Arg) rs879253752
NM_007289.4(MME):c.1892G>A (p.Trp631Ter)
NM_007289.4(MME):c.193T>C (p.Ser65Pro) rs201910473
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.238T>C (p.Cys80Arg)
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.838G>T (p.Glu280Ter)
NM_007289.4(MME):c.917C>T (p.Ala306Val) rs1407756399

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