ClinVar Miner

List of variants reported as likely pathogenic for Charcot-Marie-Tooth disease type 4D by Revvity Omics, Revvity

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_006096.4(NDRG1):c.205+1G>A	rs1060503092	0.00001
NM_006096.4(NDRG1):c.259C>T (p.Gln87Ter)
NM_006096.4(NDRG1):c.681dup (p.Ile228fs)	rs879254290

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