List of variants in gene CCBE1 reported as pathogenic for primary lymphedema

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_133459.4(CCBE1):c.472C>T (p.Arg158Cys)	rs121908253	0.00019
NM_133459.4(CCBE1):c.223T>A (p.Cys75Ser)	rs121908250	0.00007
NM_133459.4(CCBE1):c.683_684insT (p.Leu229fs)	rs563023244	0.00007
NM_133459.4(CCBE1):c.520T>C (p.Cys174Arg)	rs121908254	0.00002
NM_133459.4(CCBE1):c.305G>C (p.Cys102Ser)	rs121908251
NM_133459.4(CCBE1):c.322C>T (p.Arg108Ter)
NM_133459.4(CCBE1):c.979G>C (p.Gly327Arg)	rs121908252

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