ClinVar Miner

List of variants in gene GLUD1 reported as likely benign for carbohydrate metabolism disease

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 18
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HGVS dbSNP
NM_005271.5(GLUD1):c.*1282G>C rs181931207
NM_005271.5(GLUD1):c.*1379C>T
NM_005271.5(GLUD1):c.*355T>G rs569595849
NM_005271.5(GLUD1):c.*852A>G rs150260124
NM_005271.5(GLUD1):c.*908T>C rs140942830
NM_005271.5(GLUD1):c.*972G>A rs12980
NM_005271.5(GLUD1):c.1344T>C (p.His448=)
NM_005271.5(GLUD1):c.1402+10G>A rs202067232
NM_005271.5(GLUD1):c.1470G>A (p.Thr490=) rs141844887
NM_005271.5(GLUD1):c.1515C>T (p.Ile505=) rs774771496
NM_005271.5(GLUD1):c.376G>A (p.Asp126Asn) rs139579928
NM_005271.5(GLUD1):c.406C>A (p.Arg136=) rs1405119017
NM_005271.5(GLUD1):c.446-9C>T
NM_005271.5(GLUD1):c.456C>T (p.Tyr152=)
NM_005271.5(GLUD1):c.585T>C (p.Asp195=) rs756647962
NM_005271.5(GLUD1):c.630A>G (p.Ala210=) rs368203417
NM_005271.5(GLUD1):c.739T>C (p.Tyr247His)
NM_005271.5(GLUD1):c.771T>G (p.Gly257=) rs144831842

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