List of variants studied for Peters plus syndrome by Genome-Nilou Lab

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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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