ClinVar Miner

List of variants in gene GLB1, LOC129936434, TMPPE studied for mucopolysaccharidosis

Included ClinVar conditions (24):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 52
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HGVS dbSNP gnomAD frequency
NM_000404.4(GLB1):c.34T>C (p.Leu12=) rs7614776 0.88431
NM_000404.4(GLB1):c.29C>T (p.Pro10Leu) rs7637099 0.48281
NM_000404.4(GLB1):c.-25C>G rs368944274 0.00037
NM_000404.4(GLB1):c.31C>G (p.Leu11Val) rs77988381 0.00028
NM_000404.4(GLB1):c.75+2dup rs587776525 0.00021
NM_000404.4(GLB1):c.40G>C (p.Val14Leu) rs376500233 0.00014
NM_000404.4(GLB1):c.61A>G (p.Thr21Ala) rs201903758 0.00005
NM_000404.4(GLB1):c.75+3A>G rs369627064 0.00004
NM_000404.4(GLB1):c.4C>A (p.Pro2Thr) rs772539129 0.00003
NM_000404.4(GLB1):c.27C>T (p.Leu9=) rs905194921 0.00002
NM_000404.4(GLB1):c.-48G>C rs529551028 0.00001
NM_000404.4(GLB1):c.20G>C (p.Arg7Pro) rs1484753571 0.00001
NM_000404.4(GLB1):c.5C>G (p.Pro2Arg) rs779544911 0.00001
NM_000404.4(GLB1):c.66C>T (p.Arg22=) rs987707141 0.00001
NM_000404.4(GLB1):c.75+10C>T rs766309446 0.00001
NM_000404.4(GLB1):c.-17C>T rs1233290104
NM_000404.4(GLB1):c.-35T>G rs886058344
NM_000404.4(GLB1):c.-37C>G rs115554377
NM_000404.4(GLB1):c.12C>T (p.Phe4=)
NM_000404.4(GLB1):c.15G>T (p.Leu5=) rs755578948
NM_000404.4(GLB1):c.27C>G (p.Leu9=)
NM_000404.4(GLB1):c.29dup (p.Leu11fs)
NM_000404.4(GLB1):c.31C>T (p.Leu11=) rs77988381
NM_000404.4(GLB1):c.33G>C (p.Leu11=)
NM_000404.4(GLB1):c.37C>T (p.Leu13=)
NM_000404.4(GLB1):c.39G>A (p.Leu13=)
NM_000404.4(GLB1):c.42T>C (p.Val14=) rs2125591563
NM_000404.4(GLB1):c.45G>C (p.Leu15=)
NM_000404.4(GLB1):c.47del (p.Leu16fs)
NM_000404.4(GLB1):c.4C>G (p.Pro2Ala) rs772539129
NM_000404.4(GLB1):c.51dup (p.Leu18fs) rs398123356
NM_000404.4(GLB1):c.5C>T (p.Pro2Leu)
NM_000404.4(GLB1):c.62C>T (p.Thr21Met)
NM_000404.4(GLB1):c.63G>A (p.Thr21=) rs2125591533
NM_000404.4(GLB1):c.65_75+1del rs1382394474
NM_000404.4(GLB1):c.67G>A (p.Gly23Ser)
NM_000404.4(GLB1):c.68G>A (p.Gly23Asp)
NM_000404.4(GLB1):c.69C>A (p.Gly23=) rs780964758
NM_000404.4(GLB1):c.69C>G (p.Gly23=) rs780964758
NM_000404.4(GLB1):c.69_75+1del
NM_000404.4(GLB1):c.6G>A (p.Pro2=)
NM_000404.4(GLB1):c.70T>C (p.Leu24=)
NM_000404.4(GLB1):c.75+16C>A
NM_000404.4(GLB1):c.75+16C>T
NM_000404.4(GLB1):c.75+19G>A
NM_000404.4(GLB1):c.75+20G>A
NM_000404.4(GLB1):c.75+2T>G rs2125591484
NM_000404.4(GLB1):c.75+7C>G rs2125591464
NM_000404.4(GLB1):c.75+8del
NM_000404.4(GLB1):c.75+9G>A rs2125591459
NM_000404.4(GLB1):c.9G>A (p.Gly3=) rs1175346838
NM_000404.4(GLB1):c.9G>C (p.Gly3=)

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