ClinVar Miner

List of variants in gene ASS1 reported as uncertain significance by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_054012.4(ASS1):c.-4C>T rs138350285 0.00022
NM_054012.4(ASS1):c.299G>A (p.Arg100His) rs138279074 0.00019
NM_054012.4(ASS1):c.19G>A (p.Val7Met) rs149938546 0.00009
NM_054012.4(ASS1):c.245T>C (p.Leu82Pro) rs559043503 0.00008
NM_054012.4(ASS1):c.298C>T (p.Arg100Cys) rs370695114 0.00003
NM_054012.4(ASS1):c.920G>A (p.Arg307His) rs571576756 0.00002
NM_054012.4(ASS1):c.929A>G (p.Lys310Arg) rs199751308 0.00002
NM_054012.4(ASS1):c.-5-10C>G rs375136377 0.00001
NM_054012.4(ASS1):c.1173C>A (p.Phe391Leu) rs1554725724 0.00001
NM_054012.4(ASS1):c.647C>A (p.Ala216Asp) rs1043964127 0.00001
NM_054012.4(ASS1):c.1022C>T (p.Ser341Phe)
NM_054012.4(ASS1):c.1165A>C (p.Thr389Pro)
NM_054012.4(ASS1):c.1166C>T (p.Thr389Ile) rs1474017319
NM_054012.4(ASS1):c.140C>T (p.Ala47Val) rs1301161301
NM_054012.4(ASS1):c.725C>T (p.Thr242Ile)
NM_054012.4(ASS1):c.773+6T>G
NM_054012.4(ASS1):c.904A>G (p.Met302Val) rs1846391609
NM_054012.4(ASS1):c.968C>T (p.Thr323Ile)
NM_054012.4(ASS1):c.991T>C (p.Cys331Arg) rs1055308437

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