ClinVar Miner

List of variants reported as pathogenic for carbohydrate metabolism disease by Undiagnosed Diseases Network,NIH

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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NM_000158.4(GBE1):c.2053-3358_2053-3350delinsTGTTTTTTACATGACAGGT rs869320698
NM_000158.4(GBE1):c.986A>C (p.Tyr329Ser) rs80338671
NM_000199.5(SGSH):c.197C>G (p.Ser66Trp) rs104894637
NM_000199.5(SGSH):c.892T>C (p.Ser298Pro) rs138504221
NM_000263.4(NAGLU):c.1834A>G (p.Ser612Gly) rs148881970
NM_000263.4(NAGLU):c.1915G>T (p.Glu639Ter) rs555145190
NM_000308.4(CTSA):c.497del (p.Glu166fs)
NM_004130.3(GYG1):c.143+3G>C rs370652040
NM_004130.3(GYG1):c.487del (p.Asp163fs) rs727502871
NM_152419.3(HGSNAT):c.1330C>T (p.Arg444Cys)

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