List of variants in gene MME reported as uncertain significance 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: 13

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HGVS	dbSNP	gnomAD frequency
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.307C>T (p.Arg103Cys)	rs765422392	0.00002
NM_007289.4(MME):c.1574A>C (p.Lys525Thr)	rs1356844489	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.516A>T (p.Glu172Asp)	rs201333758	0.00001
NM_007289.4(MME):c.1094+5G>T	rs1048105813
NM_007289.4(MME):c.1272del (p.Arg425fs)	rs1060499935
NM_007289.4(MME):c.193T>C (p.Ser65Pro)	rs201910473
NM_007289.4(MME):c.655-4A>G
NM_007289.4(MME):c.917C>T (p.Ala306Val)	rs1407756399

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