ClinVar Miner

List of variants reported as benign for Peters plus syndrome by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 21
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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.1108G>A (p.Glu370Lys) rs1041073 0.66142
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.1105G>A (p.Gly369Ser) rs34638481 0.02336
NM_194318.4(B3GLCT):c.271-12T>C rs117111131 0.01874
NM_194318.4(B3GLCT):c.672C>T (p.Tyr224=) rs35019745 0.01584
NM_194318.4(B3GLCT):c.733G>A (p.Val245Met) rs34830061 0.00488
NM_194318.4(B3GLCT):c.1134C>T (p.Tyr378=) rs34854594 0.00449
NM_194318.4(B3GLCT):c.271-8T>C rs183322816 0.00199
NM_194318.4(B3GLCT):c.1329+6G>T rs200460848 0.00150
NM_194318.4(B3GLCT):c.1064+10C>T rs143013995 0.00131
NM_194318.4(B3GLCT):c.39G>C (p.Pro13=) rs753313963 0.00116
NM_194318.4(B3GLCT):c.1185-6C>G rs202096313 0.00055
NM_194318.4(B3GLCT):c.902A>T (p.Tyr301Phe) rs114184584 0.00034
NM_194318.4(B3GLCT):c.1010G>A (p.Arg337His) rs199794968 0.00022
NM_194318.4(B3GLCT):c.315A>G (p.Glu105=) rs200376294 0.00007
NM_194318.4(B3GLCT):c.71-9T>C rs569540121 0.00006
NM_194318.4(B3GLCT):c.161-8del
NM_194318.4(B3GLCT):c.161-8dup rs757600274
NM_194318.4(B3GLCT):c.781-12del rs747597532

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