ClinVar Miner

List of variants in gene NEFL reported as benign for Charcot-Marie-Tooth disease type 1

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 14
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HGVS dbSNP
NC_000008.11:g.24956698G>C
NM_006158.4(NEFL):c.*101A>G rs34505194
NM_006158.4(NEFL):c.*1344G>A rs79034217
NM_006158.4(NEFL):c.*1806T>C rs192937928
NM_006158.4(NEFL):c.*244A>G rs78869168
NM_006158.4(NEFL):c.*486T>G rs562682645
NM_006158.4(NEFL):c.*82T>A rs148654058
NM_006158.4(NEFL):c.*878A>G rs189452316
NM_006158.4(NEFL):c.-176C>A rs2979688
NM_006158.4(NEFL):c.1402G>A (p.Asp468Asn) rs57153321
NM_006158.4(NEFL):c.227T>C (p.Val76Ala) rs58907919
NM_006158.4(NEFL):c.639C>G (p.Ile213Met) rs62636522
NM_006158.5(NEFL):c.*1293A>G
NM_006158.5(NEFL):c.1407G>A (p.Glu469=) rs543609297

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