List of variants in gene ARFGEF1 reported as pathogenic for Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NC_000008.10:g.(?_68109883)_(68255913_?)del
NM_006421.5(ARFGEF1):c.1240_1241del (p.Lys414fs)
NM_006421.5(ARFGEF1):c.1942C>T (p.Gln648Ter)	rs1804841321
NM_006421.5(ARFGEF1):c.2392G>A (p.Asp798Asn)	rs1840520188
NM_006421.5(ARFGEF1):c.2925_2926del (p.Cys976fs)	rs2491464614
NM_006421.5(ARFGEF1):c.3539T>G (p.Ile1180Arg)
NM_006421.5(ARFGEF1):c.3799C>T (p.Gln1267Ter)	rs2491362882
NM_006421.5(ARFGEF1):c.4627C>T (p.Arg1543Ter)	rs749942462
NM_006421.5(ARFGEF1):c.5320C>T (p.Arg1774Ter)	rs1838287933
NM_006421.5(ARFGEF1):c.996_1005del (p.Val333fs)	rs2491808665

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