ClinVar Miner

List of variants reported as benign for Hyperammonemia, type III

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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_153006.3(NAGS):c.1451+9T>C rs228773 0.93334
NM_153006.3(NAGS):c.916-57T>C rs228770 0.91995
NM_153006.3(NAGS):c.*211C>T rs640631 0.86592
NM_153006.3(NAGS):c.*3C>T rs186636 0.54224
NM_153006.3(NAGS):c.1096+20C>G rs228771 0.28327
NM_153006.3(NAGS):c.1086T>C (p.Phe362=) rs55708447 0.16339
NM_153006.3(NAGS):c.182A>G (p.Glu61Gly) rs113134544 0.01375
NM_153006.3(NAGS):c.284C>T (p.Pro95Leu) rs200607114 0.00480
NM_153006.3(NAGS):c.1281C>G (p.Ala427=) rs371886833 0.00210
NM_153006.3(NAGS):c.374C>A (p.Thr125Lys) rs185863881 0.00187
NM_153006.3(NAGS):c.1368C>G (p.Ser456=) rs147700427 0.00184
NM_153006.3(NAGS):c.1268+11G>A rs201629145 0.00183
NM_153006.3(NAGS):c.1216G>A (p.Asp406Asn) rs140481641 0.00135
NM_153006.3(NAGS):c.612A>G (p.Val204=) rs139907815 0.00134
NM_153006.3(NAGS):c.426+19G>A rs368844914 0.00110
NM_153006.3(NAGS):c.1268+17del
NM_153006.3(NAGS):c.1268+17dup
NM_153006.3(NAGS):c.1398G>A (p.Arg466=) rs369492320
NM_153006.3(NAGS):c.465C>A (p.Ser155=) rs535703833
NM_153006.3(NAGS):c.465C>T (p.Ser155=) rs535703833

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