ClinVar Miner

List of variants reported as benign for Citrullinemia type I by Illumina Laboratory Services, Illumina

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_014251.3(SLC25A13):c.328+6A>G rs6957975 0.67687
NM_014251.3(SLC25A13):c.1194A>G (p.Leu398=) rs2301629 0.34968
NM_000050.4(ASS1):c.-323G>T rs2071367 0.18565
NM_054012.4(ASS1):c.501C>T (p.His167=) rs10901072 0.12154
NM_054012.4(ASS1):c.876T>C (p.His292=) rs1057484 0.10667
NM_054012.4(ASS1):c.597+8C>T rs77343702 0.04911
NM_054012.4(ASS1):c.688+4T>C rs78432485 0.02036
NM_054012.4(ASS1):c.766G>A (p.Glu256Lys) rs74923032 0.00937
NM_054012.3(ASS1):c.-172C>T rs142263406 0.00899
NM_054012.4(ASS1):c.675C>T (p.Ile225=) rs58233547 0.00735
NM_054012.4(ASS1):c.106-10T>G rs73541957 0.00593

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