ClinVar Miner

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

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
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HGVS dbSNP
NM_005271.5(GLUD1):c.1060-10T>A rs17096421
NM_005271.5(GLUD1):c.1403-11dup rs550609501
NM_005271.5(GLUD1):c.1470G>A (p.Thr490=) rs141844887
NM_005271.5(GLUD1):c.342T>C (p.His114=) rs142544510
NM_005271.5(GLUD1):c.376G>A (p.Asp126Asn) rs139579928
NM_005271.5(GLUD1):c.630A>G (p.Ala210=) rs368203417
NM_005271.5(GLUD1):c.646+16_646+17del rs201141455
NM_005271.5(GLUD1):c.647-5C>G rs201611802
NM_005271.5(GLUD1):c.909A>C (p.Thr303=) rs113997422
NM_005271.5(GLUD1):c.942A>G (p.Leu314=) rs9421572

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