ClinVar Miner

List of variants reported as likely pathogenic for carbohydrate metabolism disease by Knight Diagnostic Laboratories, Oregon Health and Sciences University

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.302C>T (p.Ala101Val) rs121964908
NM_000152.5(GAA):c.1441T>C (p.Trp481Arg) rs772883420
NM_000262.3(NAGA):c.606C>A (p.Tyr202Ter) rs779423223
NM_000262.3(NAGA):c.973G>A (p.Glu325Lys) rs121434529
NM_000298.6(PKLR):c.1456C>T (p.Arg486Trp) rs116100695
NM_005609.4(PYGM):c.425-26A>G rs764313717
NM_021957.4(GYS2):c.1230-1G>A rs766733439

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