ClinVar Miner

List of variants reported as benign for Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome

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Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_014252.3(SLC25A15):c.-274T>C rs7997189 0.56484
NM_014252.4(SLC25A15):c.*515A>G rs7322603 0.39342
NM_014252.4(SLC25A15):c.*353A>G rs9549293 0.39328
NM_014252.4(SLC25A15):c.*579C>T rs7321976 0.39308
NM_014252.4(SLC25A15):c.760A>T (p.Ile254Leu) rs17849654 0.34875
NM_014252.4(SLC25A15):c.*1855C>A rs9566580 0.20154
NM_014252.4(SLC25A15):c.333C>T (p.Ala111=) rs9577152 0.11997
NM_014252.4(SLC25A15):c.*2328G>T rs9577154 0.08819
NM_014252.4(SLC25A15):c.117G>A (p.Thr39=) rs41396747 0.08535
NM_014252.4(SLC25A15):c.*929G>C rs17061602 0.07878
NM_014252.4(SLC25A15):c.*684C>T rs111782657 0.07643
NM_014252.4(SLC25A15):c.*610G>T rs7320743 0.07290
NM_014252.4(SLC25A15):c.*1641G>T rs149457069 0.06406
NM_014252.4(SLC25A15):c.*1626A>G rs59670947 0.03522
NM_014252.4(SLC25A15):c.*2097T>A rs17592947 0.03453
NM_014252.4(SLC25A15):c.*48T>A rs145530626 0.03065
NM_014252.4(SLC25A15):c.*898C>T rs12585190 0.01899
NM_014252.4(SLC25A15):c.*1945G>A rs114817943 0.01135
NM_014252.4(SLC25A15):c.*1494A>G rs113342797 0.01105
NM_014252.4(SLC25A15):c.623-17A>G rs191780003 0.00905
NM_014252.4(SLC25A15):c.*420T>G rs75842883 0.00141
NM_014252.4(SLC25A15):c.*159C>G rs9577153 0.00139
NM_014252.4(SLC25A15):c.683A>T (p.Tyr228Phe) rs201625549 0.00060
NM_014252.4(SLC25A15):c.55+12T>C rs575712830
NM_014252.4(SLC25A15):c.56-15_56-14del
NM_014252.4(SLC25A15):c.565G>A (p.Gly189Ser) rs151239794
NM_014252.4(SLC25A15):c.623-7del
NM_014252.4(SLC25A15):c.623-7dup rs150927352

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