ClinVar Miner

List of variants in gene AMN reported as likely pathogenic for 3-methylglutaconic aciduria type 1

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 23
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HGVS dbSNP
NM_030943.3(AMN):c.1006+16_1006+30del rs386834160
NM_030943.3(AMN):c.1006+34_1006+48del rs386834161
NM_030943.3(AMN):c.1006+36_1006+50del rs386834162
NM_030943.3(AMN):c.1014_1021delCCTCGGCG (p.Leu339Profs) rs386834163
NM_030943.3(AMN):c.1170-6C>T rs386834164
NM_030943.3(AMN):c.1253dupA (p.Leu419Alafs) rs386834165
NM_030943.3(AMN):c.1257+10C>T rs386834166
NM_030943.3(AMN):c.1314_1315delCA (p.His438Glnfs) rs386834167
NM_030943.3(AMN):c.14delG (p.Gly5Alafs) rs386834168
NM_030943.3(AMN):c.208-1G>C rs386834169
NM_030943.3(AMN):c.208-2A>G rs386834170
NM_030943.3(AMN):c.295delG (p.Gly99Alafs) rs386834171
NM_030943.3(AMN):c.43+1G>T rs386834172
NM_030943.3(AMN):c.468dupT (p.Gly157Trpfs) rs386834173
NM_030943.3(AMN):c.514-34G>A rs144077391
NM_030943.3(AMN):c.663G>A (p.Trp221Ter) rs386834174
NM_030943.3(AMN):c.683_730del (p.Gln228_Leu243del) rs386834175
NM_030943.3(AMN):c.701G>T (p.Cys234Phe) rs386834176
NM_030943.3(AMN):c.742C>T (p.Gln248Ter) rs386834177
NM_030943.3(AMN):c.760+1G>A rs1555381485
NM_030943.3(AMN):c.761G>A (p.Gly254Glu) rs386834178
NM_030943.3(AMN):c.844-1G>C
NM_030943.3(AMN):c.974_977dupCCCG (p.Ala327Profs) rs386834179

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