List of variants in gene NEFL studied for Charcot-Marie-Tooth disease, type I

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 19

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HGVS	dbSNP	gnomAD frequency
NM_006158.5(NEFL):c.*1256G>A	rs2979704	0.77789
NM_006158.5(NEFL):c.*687G>C	rs2976439	0.53745
NM_006158.5(NEFL):c.*1107C>T	rs3761	0.10372
NM_006158.5(NEFL):c.*1643G>A	rs8077	0.08320
NM_006158.5(NEFL):c.*426G>A	rs73546943	0.06709
NM_006158.5(NEFL):c.*378A>G	rs17052849	0.04877
NM_006158.5(NEFL):c.*1100C>T	rs79736124	0.03959
NM_006158.5(NEFL):c.*883G>C	rs76387248	0.01696
NM_006158.5(NEFL):c.*1155T>G	rs116881703	0.00773
NM_006158.5(NEFL):c.667C>T (p.Leu223=)	rs60156239	0.00494
NM_006158.5(NEFL):c.*485A>G	rs145103399	0.00252
NM_006158.5(NEFL):c.*1198G>C	rs4644268
NM_006158.5(NEFL):c.1340_1342del	rs886062829
NM_006158.5(NEFL):c.1609_1612del	rs886062826
NM_006158.5(NEFL):c.*235A>T	rs1059111
NM_006158.5(NEFL):c.407_408del	rs144391096
NM_006158.5(NEFL):c.*565del	rs886062833
NM_006158.5(NEFL):c.1330A>C (p.Thr444Pro)	rs201455550
NM_006158.5(NEFL):c.898G>A (p.Ala300Thr)	rs774416609

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