ClinVar Miner

List of variants reported as uncertain significance for Charcot-Marie-Tooth disease axonal type 2V

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000263.4(NAGLU):c.1331C>T (p.Ala444Val)	rs767179184	0.00001
NM_000263.4(NAGLU):c.530G>A (p.Arg177Gln)	rs1323850779	0.00001
NM_000263.4(NAGLU):c.1304A>G (p.Asn435Ser)	rs764815033

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