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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_005271.5(GLUD1):c.942A>G (p.Leu314=)	rs9421572	0.08685
NM_005271.5(GLUD1):c.1060-10T>A	rs17096421	0.03225
NM_005271.5(GLUD1):c.342T>C (p.His114=)	rs142544510	0.01392
NM_005271.5(GLUD1):c.1470G>A (p.Thr490=)	rs141844887	0.00818
NM_005271.5(GLUD1):c.909A>C (p.Thr303=)	rs113997422	0.00222
NM_005271.5(GLUD1):c.1403-11T>C	rs886047374	0.00015
NM_005271.5(GLUD1):c.630A>G (p.Ala210=)	rs368203417	0.00001
NM_005271.5(GLUD1):c.1198-9C>G	rs201421730
NM_005271.5(GLUD1):c.1198-9C>T
NM_005271.5(GLUD1):c.1403-11dup	rs550609501
NM_005271.5(GLUD1):c.1647G>A (p.Val549=)	rs756484571
NM_005271.5(GLUD1):c.582+18A>G
NM_005271.5(GLUD1):c.646+16_646+17del	rs201141455
NM_005271.5(GLUD1):c.647-5C>G	rs201611802

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