ClinVar Miner

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

Minimum submission review status:		Collection method:
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Gene type:		Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 5

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HGVS	dbSNP
NM_006158.4(NEFL):c.1319C>T (p.Pro440Leu)	rs587777882
NM_006158.4(NEFL):c.19G>A (p.Glu7Lys)	rs57848467
NM_006158.4(NEFL):c.22C>A (p.Pro8Thr)	rs886043551
NM_006158.4(NEFL):c.23C>G (p.Pro8Arg)	rs61491953
NM_006158.4(NEFL):c.48_60dup (p.Thr21fs)	rs58640772

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