ClinVar Miner

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

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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_054012.4(ASS1):c.597+81A>G rs641510 0.91777
NM_054012.4(ASS1):c.838+38A>G rs1215940 0.89625
NM_054012.4(ASS1):c.597+18A>G rs652313 0.77461
NM_054012.4(ASS1):c.566+88C>T rs493389 0.59097
NM_054012.4(ASS1):c.597+178G>A rs486889 0.57370
NM_054012.4(ASS1):c.105+115G>A rs1615006 0.56622
NM_054012.4(ASS1):c.175-1233G>A rs1215988 0.32238
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.174+21A>G rs73541961 0.05590
NM_054012.4(ASS1):c.597+8C>T rs77343702 0.04911
NM_054012.4(ASS1):c.496-36C>T rs12343715 0.04390
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.675C>T (p.Ile225=) rs58233547 0.00735
NM_054012.4(ASS1):c.106-10T>G rs73541957 0.00593
NM_054012.4(ASS1):c.622A>G (p.Thr208Ala) rs62637575 0.00277
NM_054012.4(ASS1):c.-5-172T>C rs1760275
NM_054012.4(ASS1):c.495+84A>C rs11243414
NM_054012.4(ASS1):c.597+18=
NM_054012.4(ASS1):c.773+23G>T rs146390729
NM_054012.4(ASS1):c.774-28G>T rs151042066
NM_054012.4(ASS1):c.838+38=

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