ClinVar Miner

List of variants studied for Hyperammonemia, type III by Baylor Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 45
Download table as spreadsheet
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.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.114_120dup (p.Arg41fs)
NM_153006.3(NAGS):c.1217_1230del (p.Asp406fs)
NM_153006.3(NAGS):c.1228T>C (p.Ser410Pro)
NM_153006.3(NAGS):c.1257C>A (p.Tyr419Ter)
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.1313del (p.Gly438fs) rs1597866458
NM_153006.3(NAGS):c.1323C>G (p.Tyr441Ter) rs886042831
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.1494G>A (p.Trp498Ter)
NM_153006.3(NAGS):c.1505G>A (p.Trp502Ter)
NM_153006.3(NAGS):c.1552G>A (p.Ala518Thr)
NM_153006.3(NAGS):c.186del (p.Glu62fs)
NM_153006.3(NAGS):c.278del (p.Pro93fs)
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.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.622C>T (p.Arg208Ter) rs762205848
NM_153006.3(NAGS):c.645_649del (p.Pro216fs)
NM_153006.3(NAGS):c.654dup (p.Gly219fs)
NM_153006.3(NAGS):c.701+2dup
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>G
NM_153006.3(NAGS):c.916-2A>G
NM_153006.3(NAGS):c.916-2A>T rs730880267
NM_153006.3:c.460_1021del

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.