ClinVar Miner

List of variants reported as benign for Charcot-Marie-Tooth disease axonal type 2V by Genome-Nilou Lab

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000263.4(NAGLU):c.423T>C (p.Ser141=)	rs659497	0.99480
NM_000263.4(NAGLU):c.531+50G>C	rs2071046	0.74899
NM_000263.4(NAGLU):c.2209C>G (p.Arg737Gly)	rs86312

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