List of variants reported as pathogenic for Intellectual developmental disorder with speech delay and axonal peripheral neuropathy

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Total variants: 11

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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.2608C>T (p.Arg870Ter)	rs766931948	0.00001
NM_004713.6(NEMF):c.1066C>T (p.Gln356Ter)	rs2503270978
NM_004713.6(NEMF):c.1234_1235insC (p.Asn412fs)	rs1892495985
NM_004713.6(NEMF):c.1235_1236insC (p.Pro413fs)	rs1892495588
NM_004713.6(NEMF):c.2011C>T (p.Arg671Ter)	rs765802022
NM_004713.6(NEMF):c.2014A>T (p.Lys672Ter)	rs1891004545
NM_004713.6(NEMF):c.2338dup (p.Thr780fs)
NM_004713.6(NEMF):c.2618del (p.Lys873fs)	rs1890664852
NM_004713.6(NEMF):c.2871_2875dup (p.Asp959delinsValTer)	rs1890324880
NM_004713.6(NEMF):c.807-2A>C	rs1892669150

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