ClinVar Miner

List of variants in gene ASS1 reported as benign for Citrullinemia

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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_054012.4(ASS1):c.597+18A>G rs652313 0.77461
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_054012.4(ASS1):c.364-6T>C rs116103138 0.00881
NM_054012.4(ASS1):c.421-19C>T rs138744326 0.00736
NM_054012.4(ASS1):c.675C>T (p.Ile225=) rs58233547 0.00735
NM_054012.4(ASS1):c.106-10T>G rs73541957 0.00593
NM_054012.4(ASS1):c.1101G>A (p.Leu367=) rs139031154 0.00128
NM_054012.4(ASS1):c.363+16A>G rs191432165 0.00099
NM_054012.4(ASS1):c.106-16C>T rs200396223 0.00096
NM_054012.4(ASS1):c.1134C>T (p.Asn378=) rs140715869 0.00094
NM_054012.4(ASS1):c.99C>T (p.Ala33=) rs147842617 0.00081
NM_054012.4(ASS1):c.1165A>G (p.Thr389Ala) rs145288815 0.00014
NM_054012.4(ASS1):c.566+20C>T rs572425289 0.00001
NM_054012.4(ASS1):c.323G>T (p.Arg108Leu) rs35269064
NM_054012.4(ASS1):c.597+10del
NM_054012.4(ASS1):c.598-5_598-4del rs749907969

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