ClinVar Miner

List of variants reported as likely pathogenic for Hyperammonemia, type III

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Total variants: 47
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HGVS dbSNP gnomAD frequency
NM_153006.3(NAGS):c.1292C>T (p.Thr431Ile) rs761558985 0.00004
NM_153006.3(NAGS):c.1526G>A (p.Arg509Gln) rs759076608 0.00004
NM_153006.3(NAGS):c.739C>T (p.Gln247Ter) rs748875458 0.00002
NM_153006.3(NAGS):c.427-222G>A rs2049072767 0.00001
NM_004160.6(PYY):c.-463+2792T>A rs2143971140
NM_004160.6(PYY):c.-463+2825G>A rs2143971053
NM_153006.3(NAGS):c.102_103insAGATCGGAAGA (p.Ala35fs) rs1567941557
NM_153006.3(NAGS):c.1096+1G>A
NM_153006.3(NAGS):c.1096+2_1096+7del
NM_153006.3(NAGS):c.1097-1G>A
NM_153006.3(NAGS):c.1097-2A>G rs2049106256
NM_153006.3(NAGS):c.1097-52_1105del rs2143989504
NM_153006.3(NAGS):c.1113dup (p.Lys372fs) rs2143989730
NM_153006.3(NAGS):c.114_120dup (p.Arg41fs)
NM_153006.3(NAGS):c.1257C>A (p.Tyr419Ter)
NM_153006.3(NAGS):c.1268+1G>A rs1597866317
NM_153006.3(NAGS):c.1268+2T>C rs202041339
NM_153006.3(NAGS):c.1269-1G>A
NM_153006.3(NAGS):c.1289T>C (p.Leu430Pro) rs104894605
NM_153006.3(NAGS):c.1414_1415del (p.Phe472fs) rs2143991359
NM_153006.3(NAGS):c.1451G>A (p.Trp484Ter)
NM_153006.3(NAGS):c.1452G>A (p.Trp484Ter)
NM_153006.3(NAGS):c.1465_1466del (p.His488_Ser489insTer)
NM_153006.3(NAGS):c.1489C>T (p.Gln497Ter)
NM_153006.3(NAGS):c.1505G>A (p.Trp502Ter)
NM_153006.3(NAGS):c.1552G>A (p.Ala518Thr)
NM_153006.3(NAGS):c.310del (p.Arg104fs)
NM_153006.3(NAGS):c.334C>T (p.Gln112Ter)
NM_153006.3(NAGS):c.382C>T (p.Gln128Ter)
NM_153006.3(NAGS):c.424G>T (p.Glu142Ter) rs1282296585
NM_153006.3(NAGS):c.427-218A>G rs886507459
NM_153006.3(NAGS):c.458del (p.Gly153fs)
NM_153006.3(NAGS):c.499A>G (p.Met167Val)
NM_153006.3(NAGS):c.569G>A (p.Trp190Ter) rs2049079486
NM_153006.3(NAGS):c.570G>A (p.Trp190Ter) rs755257734
NM_153006.3(NAGS):c.645_649del (p.Pro216fs)
NM_153006.3(NAGS):c.654dup (p.Gly219fs)
NM_153006.3(NAGS):c.701+1G>A rs2049082368
NM_153006.3(NAGS):c.701+2dup
NM_153006.3(NAGS):c.702-1G>C
NM_153006.3(NAGS):c.719C>A (p.Ser240Ter)
NM_153006.3(NAGS):c.823del (p.Leu275fs)
NM_153006.3(NAGS):c.842del (p.Leu281fs)
NM_153006.3(NAGS):c.872T>A (p.Ile291Asn)
NM_153006.3(NAGS):c.915+1G>T rs1319006991
NM_153006.3(NAGS):c.915+2T>C
NM_153006.3(NAGS):c.915+2T>G

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