List of variants in gene CCBE1 studied for not specified

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 19

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HGVS	dbSNP	gnomAD frequency
NM_133459.4(CCBE1):c.401-29T>C	rs4940876	0.95824
NM_133459.4(CCBE1):c.265+67C>T	rs1663548	0.66558
NM_133459.4(CCBE1):c.265+28G>C	rs1790508	0.65649
NM_133459.4(CCBE1):c.775+12A>G	rs1893788	0.59779
NM_133459.4(CCBE1):c.266-30T>C	rs632899	0.44900
NM_133459.4(CCBE1):c.266-104C>T	rs650033	0.43621
NM_133459.4(CCBE1):c.266-63G>T	rs663452	0.42927
NM_133459.4(CCBE1):c.265+26C>A	rs1663549	0.28435
NM_133459.4(CCBE1):c.775+171C>T	rs3809991	0.27434
NM_133459.4(CCBE1):c.988-10A>G	rs115490148	0.02376
NM_133459.4(CCBE1):c.837C>T (p.Pro279=)	rs61745250	0.01198
NM_133459.4(CCBE1):c.*14C>T	rs72958116	0.00900
NM_133459.4(CCBE1):c.499C>T (p.Arg167Trp)	rs116675104	0.00064
NM_133459.4(CCBE1):c.265+8A>C	rs181010692	0.00052
NM_133459.4(CCBE1):c.472C>T (p.Arg158Cys)	rs121908253	0.00019
NM_133459.4(CCBE1):c.916-2A>G	rs367990953	0.00004
NM_133459.4(CCBE1):c.1079G>A (p.Arg360Gln)	rs200219373
NM_133459.4(CCBE1):c.654+5G>A	rs150596993
NM_133459.4(CCBE1):c.775+82A>G	rs3809990

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