List of variants in gene MME reported as pathogenic for Charcot-Marie-Tooth disease axonal type 2T

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_007289.4(MME):c.655-2A>G	rs765591205	0.00001
NM_007289.4(MME):c.1119_1127del (p.Trp373_Ile376delinsTer)
NM_007289.4(MME):c.1400dup (p.Arg468fs)	rs751149568
NM_007289.4(MME):c.1564C>T (p.Gln522Ter)	rs1553765316
NM_007289.4(MME):c.1861T>C (p.Cys621Arg)	rs879253752
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.661C>T (p.Gln221Ter)	rs879253751

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