ClinVar Miner

List of variants reported as likely pathogenic for carbohydrate metabolism disease by SingHealth Duke-NUS Institute of Precision Medicine

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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NM_000027.4(AGA):c.121G>T (p.Glu41Ter) rs1560952256
NM_000181.4(GUSB):c.104C>A (p.Ser35Ter) rs1238361161
NM_000263.4(NAGLU):c.309G>A (p.Trp103Ter) rs1567890328
NM_000284.4(PDHA1):c.300_301dup (p.Cys101fs) rs1569190422
NM_000284.4(PDHA1):c.791_792del (p.Glu264fs) rs1569191879
NM_001166158.1(PDHX):c.-197del rs1158194122
NM_001370658.1(BTD):c.577del (p.His193fs) rs780874850

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