ClinVar Miner

List of variants in gene ASS1 reported as likely benign for Citrullinemia type I

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_054012.4(ASS1):c.175-1129A>G rs59227343 0.02410
NM_054012.4(ASS1):c.-5-1883C>T rs12004384 0.01076
NM_054012.4(ASS1):c.364-6T>C rs116103138 0.00881
NM_054012.4(ASS1):c.675C>T (p.Ile225=) rs58233547 0.00735
NM_054012.4(ASS1):c.1101G>A (p.Leu367=) rs139031154 0.00128
NM_054012.4(ASS1):c.1134C>T (p.Asn378=) rs140715869 0.00094
NM_054012.4(ASS1):c.411C>T (p.Pro137=) rs139250536 0.00034
NM_054012.4(ASS1):c.174+4C>A rs368133957 0.00016
NM_054012.4(ASS1):c.1165A>G (p.Thr389Ala) rs145288815 0.00014
NM_054012.4(ASS1):c.858A>T (p.Ala286=) rs201905628 0.00014
NM_054012.4(ASS1):c.549G>A (p.Glu183=) rs747401210 0.00013
NM_054012.4(ASS1):c.174+10G>A rs371597908 0.00007
NM_054012.4(ASS1):c.1047G>T (p.Val349=) rs376502913 0.00006
NM_054012.4(ASS1):c.566+11C>T rs200527708 0.00004
NM_054012.4(ASS1):c.786C>T (p.Gly262=) rs536799104 0.00003
NM_054012.4(ASS1):c.294C>T (p.Ile98=) rs183370361 0.00002
NM_054012.4(ASS1):c.1014C>T (p.Ile338=) rs749554993 0.00001
NM_054012.4(ASS1):c.1083C>T (p.Leu361=) rs78564724 0.00001
NM_054012.4(ASS1):c.261C>T (p.Tyr87=) rs749648285 0.00001
NM_054012.4(ASS1):c.711C>T (p.Asn237=) rs779981831 0.00001
NM_054012.4(ASS1):c.323G>T (p.Arg108Leu) rs35269064
NM_054012.4(ASS1):c.408C>T (p.Ala136=) rs765880041

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