ClinVar Miner

List of variants reported as pathogenic for carbohydrate metabolism disease by Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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NM_000035.4(ALDOB):c.448G>C (p.Ala150Pro) rs1800546
NM_000035.4(ALDOB):c.865del (p.Leu289fs) rs864309533
NM_000152.5(GAA):c.2704_2716dup (p.Val906fs) rs1057516189
NM_000340.2(SLC2A2):c.1358_1359del (p.Cys453fs) rs1553784980
NM_000642.3(AGL):c.378T>A (p.Cys126Ter) rs1553183359
NM_003041.4(SLC5A2):c.1291del (p.Val431fs) rs1555496083
NM_138413.4(HOGA1):c.123del (p.Pro41_Val42insTer) rs1419840309

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