ClinVar Miner

List of variants reported as benign for Peters plus syndrome by Genome-Nilou Lab

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_194318.4(B3GLCT):c.348T>C (p.His116=) rs4943266 0.96681
NM_194318.4(B3GLCT):c.121-120G>C rs2147515 0.95735
NM_194318.4(B3GLCT):c.781-125G>C rs1028751 0.90446
NM_194318.4(B3GLCT):c.850+151A>G rs1409373 0.88627
NM_194318.4(B3GLCT):c.1108G>A (p.Glu370Lys) rs1041073 0.66142
NM_194318.4(B3GLCT):c.850+81G>A rs4065552 0.62176
NM_194318.4(B3GLCT):c.347+20C>G rs9542307 0.38493
NM_194318.4(B3GLCT):c.347+4C>T rs9564692 0.35942
NM_194318.4(B3GLCT):c.780+58A>G rs728930 0.19910
NM_194318.4(B3GLCT):c.271-12T>C rs117111131 0.01874
NM_194318.4(B3GLCT):c.*29G>T rs1060709
NM_194318.4(B3GLCT):c.597-23del rs3215787
NM_194318.4(B3GLCT):c.71-5del rs398022187
NM_194318.4(B3GLCT):c.781-34_781-31dup rs137981677

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