ClinVar Miner

List of variants studied for Hyperammonemia, type III by Illumina Laboratory Services, Illumina

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Total variants: 35
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HGVS dbSNP gnomAD frequency
NM_153006.3(NAGS):c.1451+9T>C rs228773 0.93334
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.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.1302C>T (p.Pro434=) rs150004962 0.00068
NM_153006.3(NAGS):c.*90G>A rs567905267 0.00055
NM_153006.3(NAGS):c.246G>A (p.Pro82=) rs747154237 0.00033
NM_153006.3(NAGS):c.1234C>T (p.Arg412Cys) rs201703838 0.00013
NM_153006.3(NAGS):c.722T>C (p.Val241Ala) rs201142696 0.00008
NM_153006.3(NAGS):c.*382C>T rs923164970 0.00005
NM_153006.3(NAGS):c.429G>A (p.Val143=) rs199976538 0.00004
NM_153006.3(NAGS):c.8C>T (p.Thr3Met) rs958791517 0.00004
NM_153006.3(NAGS):c.940G>A (p.Ala314Thr) rs186127828 0.00004
NM_153006.3(NAGS):c.*43A>G rs762719000 0.00002
NM_153006.3(NAGS):c.*115G>A rs1215816858 0.00001
NM_153006.3(NAGS):c.1231C>A (p.Leu411Met) rs199923863 0.00001
NM_153006.3(NAGS):c.116C>T (p.Ala39Val) rs754480096
NM_153006.3(NAGS):c.1263C>G (p.Ser421=) rs748046278
NM_153006.3(NAGS):c.1307T>G (p.Leu436Arg) rs867444614
NM_153006.3(NAGS):c.1398G>A (p.Arg466=) rs369492320
NM_153006.3(NAGS):c.1554C>G (p.Ala518=) rs750912652
NM_153006.3(NAGS):c.190G>A (p.Ala64Thr) rs531005276
NM_153006.3(NAGS):c.630C>T (p.Asn210=) rs2049080644
NM_153006.3(NAGS):c.681C>G (p.Ala227=) rs886052982
NM_153006.3(NAGS):c.721G>A (p.Val241Met) rs899402990
NM_153006.3(NAGS):c.807C>T (p.Ser269=) rs767368629
NM_153006.3(NAGS):c.904A>G (p.Ser302Gly) rs377702343

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