List of variants in gene ARHGEF18 reported as pathogenic for inborn disorder of amino acid metabolism

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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: 5

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HGVS	dbSNP	gnomAD frequency
NM_001367823.1(ARHGEF18):c.1372A>G (p.Thr458Ala)	rs987233144	0.00002
NM_001367823.1(ARHGEF18):c.2560C>T (p.Arg854Ter)	rs1064793000	0.00001
NM_001367823.1(ARHGEF18):c.2181+5G>A	rs1064793002
NM_001367823.1(ARHGEF18):c.3196G>T (p.Glu1066Ter)	rs767689418
NM_001367823.1(ARHGEF18):c.3302_3325del (p.Arg1101_Glu1108del)	rs1064793001

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