ClinVar Miner

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

Included ClinVar conditions (436):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 42
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HGVS dbSNP gnomAD frequency
NM_005271.5(GLUD1):c.*852A>G rs150260124 0.00846
NM_005271.5(GLUD1):c.1470G>A (p.Thr490=) rs141844887 0.00818
NM_005271.5(GLUD1):c.*908T>C rs140942830 0.00817
NM_005271.5(GLUD1):c.*972G>A rs12980 0.00335
NM_005271.5(GLUD1):c.*1282G>C rs181931207 0.00208
NM_005271.5(GLUD1):c.*1379C>T rs181813972 0.00030
NM_005271.5(GLUD1):c.1402+10G>A rs202067232 0.00016
NM_005271.5(GLUD1):c.468G>A (p.Val156=) rs780979729 0.00009
NM_005271.5(GLUD1):c.585T>C (p.Asp195=) rs756647962 0.00005
NM_005271.5(GLUD1):c.330G>A (p.Lys110=) rs199752396 0.00002
NM_005271.5(GLUD1):c.526+11G>A rs757850230 0.00002
NM_005271.5(GLUD1):c.527-4T>G rs779153065 0.00002
NM_005271.5(GLUD1):c.1515C>T (p.Ile505=) rs774771496 0.00001
NM_005271.5(GLUD1):c.527-12C>T rs780201965 0.00001
NM_005271.5(GLUD1):c.594G>A (p.Leu198=) rs781638449 0.00001
NM_005271.5(GLUD1):c.630A>G (p.Ala210=) rs368203417 0.00001
NM_005271.5(GLUD1):c.635A>G (p.Lys212Arg) rs761375132 0.00001
NM_005271.5(GLUD1):c.*355T>G rs569595849
NM_005271.5(GLUD1):c.1026T>C (p.Gly342=)
NM_005271.5(GLUD1):c.1122C>T (p.Ala374=)
NM_005271.5(GLUD1):c.1197+20C>G
NM_005271.5(GLUD1):c.1209A>G (p.Glu403=)
NM_005271.5(GLUD1):c.1279-19G>T
NM_005271.5(GLUD1):c.1344T>C (p.His448=) rs1845866673
NM_005271.5(GLUD1):c.1454T>C (p.Ile485Thr) rs2133788934
NM_005271.5(GLUD1):c.1466C>G (p.Pro489Arg)
NM_005271.5(GLUD1):c.1495-14C>A rs2133777461
NM_005271.5(GLUD1):c.1557+12G>A rs201872390
NM_005271.5(GLUD1):c.1593A>T (p.Gly531=)
NM_005271.5(GLUD1):c.1617T>C (p.Tyr539=)
NM_005271.5(GLUD1):c.1647G>C (p.Val549=)
NM_005271.5(GLUD1):c.446-9C>T rs1846404467
NM_005271.5(GLUD1):c.456C>T (p.Tyr152=) rs1846403678
NM_005271.5(GLUD1):c.526+10C>T
NM_005271.5(GLUD1):c.534G>T (p.Pro178=) rs764675203
NM_005271.5(GLUD1):c.582+7A>G
NM_005271.5(GLUD1):c.647-14C>T
NM_005271.5(GLUD1):c.739T>C (p.Tyr247His) rs2133811373
NM_005271.5(GLUD1):c.742-8del
NM_005271.5(GLUD1):c.756C>T (p.His252=)
NM_005271.5(GLUD1):c.771T>G (p.Gly257=) rs144831842
NM_005271.5(GLUD1):c.859G>A (p.Ala287Thr)

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