ClinVar Miner

List of variants in gene GLB1, TMPPE studied for carbohydrate metabolism disease

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 20
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HGVS dbSNP
NM_000404.4(GLB1):c.-17C>T
NM_000404.4(GLB1):c.-25C>G rs368944274
NM_000404.4(GLB1):c.-35T>G rs886058344
NM_000404.4(GLB1):c.-37C>G rs115554377
NM_000404.4(GLB1):c.-48G>C
NM_000404.4(GLB1):c.27C>T (p.Leu9=)
NM_000404.4(GLB1):c.29C>T (p.Pro10Leu) rs7637099
NM_000404.4(GLB1):c.31C>G (p.Leu11Val) rs77988381
NM_000404.4(GLB1):c.31C>T (p.Leu11=)
NM_000404.4(GLB1):c.34T>C (p.Leu12=) rs7614776
NM_000404.4(GLB1):c.42T>C (p.Val14=)
NM_000404.4(GLB1):c.4C>A (p.Pro2Thr) rs772539129
NM_000404.4(GLB1):c.5C>G (p.Pro2Arg)
NM_000404.4(GLB1):c.61A>G (p.Thr21Ala)
NM_000404.4(GLB1):c.65_75+1del rs1382394474
NM_000404.4(GLB1):c.66C>T (p.Arg22=)
NM_000404.4(GLB1):c.69C>G (p.Gly23=) rs780964758
NM_000404.4(GLB1):c.75+10C>T
NM_000404.4(GLB1):c.75+2T>G
NM_000404.4(GLB1):c.75+2dup rs587776525

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