ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease recessive intermediate C by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (2):

Charcot-Marie-Tooth disease recessive intermediate C
Neuronopathy, distal hereditary motor, autosomal recessive 4; Charcot-Marie-Tooth disease recessive intermediate C

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

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_020631.6(PLEKHG5):c.-88+6328C>T	rs147378306	0.00522
NM_020631.6(PLEKHG5):c.440-2A>G	rs144750655	0.00026
NM_020631.6(PLEKHG5):c.895T>G (p.Trp299Gly)	rs112657733	0.00002

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