ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease type 2E by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (2):

Charcot-Marie-Tooth disease type 1F; Charcot-Marie-Tooth disease type 2E; Charcot-Marie-Tooth disease, dominant intermediate G
Charcot-Marie-Tooth disease type 2E

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_006158.5(NEFL):c.1610A>G (p.Gln537Arg)	rs377121179	0.00055
NM_006158.5(NEFL):c.338_339delinsCC (p.Gln113Pro)	rs1554497641
NM_006158.5(NEFL):c.793T>G (p.Tyr265Asp)	rs1554497573
NM_006158.5(NEFL):c.986T>C (p.Leu329Pro)	rs876661290

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