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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 14

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HGVS	dbSNP	gnomAD frequency
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.1313_1314del (p.His438fs)	rs765778616	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.440-2A>C	rs200435950	0.00001
NM_007289.4(MME):c.1400dup (p.Arg468fs)	rs751149568
NM_007289.4(MME):c.1666C>T (p.Pro556Ser)	rs1559961997
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.716_717del (p.Lys239fs)	rs2108261555
NM_007289.4(MME):c.838G>T (p.Glu280Ter)

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