ClinVar Miner

List of variants reported as pathogenic for Intellectual developmental disorder with speech delay and axonal peripheral neuropathy by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_004713.6(NEMF):c.1410T>G (p.Tyr470Ter)	rs371405135	0.00004
NM_004713.6(NEMF):c.1066C>T (p.Gln356Ter)	rs2503270978

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