ClinVar Miner

List of variants studied for classic organic aciduria by Inserm U 954, Faculté de Médecine de Nancy

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP
NM_001081.3(CUBN):c.1000C>T (p.Gln334Ter) rs561240556
NM_015506.3(MMACHC):c.420G>A (p.Trp140Ter) rs796051996
NM_015506.3(MMACHC):c.766_771del (p.Ala256_Pro257del) rs796064513
NM_030943.3(AMN):c.208-2A>G rs386834170
NM_030943.3(AMN):c.742C>T (p.Gln248Ter) rs386834177
NM_052845.4(MMAB):c.19_36GGGAGCCGTCTTGGCCTG[1] (p.7_12GSRLGL[1]) rs770077320
NM_172250.3(MMAA):c.370C>T (p.Gln124Ter) rs796064514

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