ClinVar Miner

List of variants reported as likely pathogenic for carbohydrate metabolism disease by Hadassah Hebrew University Medical Center

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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NM_000152.5(GAA):c.716del (p.Leu239fs) rs1555599594
NM_001370658.1(BTD):c.175C>T (p.Arg59Cys) rs104893687
NM_003041.4(SLC5A2):c.294_295insTT (p.Glu99fs) rs770214617
NM_005609.4(PYGM):c.1742del (p.Cys581fs) rs1592409631
NM_018297.4(NGLY1):c.1294G>T (p.Glu432Ter) rs992161646

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