ClinVar Miner

List of variants in gene CCBE1 reported by GeneDx

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Gene type:
ClinVar version:
Total variants: 45
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HGVS dbSNP gnomAD frequency
NM_133459.4(CCBE1):c.401-29T>C rs4940876 0.95824
NM_133459.4(CCBE1):c.952-260T>C rs4940874 0.82518
NM_133459.4(CCBE1):c.265+204C>T rs1789475 0.66570
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.553+249A>G rs8082772 0.62894
NM_133459.4(CCBE1):c.775+12A>G rs1893788 0.59779
NM_133459.4(CCBE1):c.951+314C>T rs11152147 0.52070
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.266-156C>T rs643602 0.42908
NM_133459.4(CCBE1):c.132-148C>G rs3114280 0.39576
NM_133459.4(CCBE1):c.776-164G>A rs11152148 0.38292
NC_000018.10:g.59697734C>T rs1791320 0.37370
NC_000018.10:g.59697596C>T rs2195534 0.36168
NM_133459.4(CCBE1):c.401-174G>T rs600795 0.33159
NM_133459.4(CCBE1):c.553+109A>T rs8083041 0.32825
NM_133459.4(CCBE1):c.265+26C>A rs1663549 0.28435
NM_133459.4(CCBE1):c.655-155A>T rs749999 0.27587
NM_133459.4(CCBE1):c.655-229T>C rs750000 0.27585
NM_133459.4(CCBE1):c.775+171C>T rs3809991 0.27434
NM_133459.4(CCBE1):c.401-225G>C rs617924 0.24575
NM_133459.4(CCBE1):c.553+301A>T rs8082747 0.24453
NM_133459.4(CCBE1):c.988-179C>T rs7228077 0.19699
NM_133459.4(CCBE1):c.400+165A>G rs895010 0.19617
NM_133459.4(CCBE1):c.655-197C>T rs75346177 0.13679
NM_133459.4(CCBE1):c.654+214A>G rs17697258 0.08798
NM_133459.4(CCBE1):c.213-209G>T rs12457023 0.05204
NM_133459.4(CCBE1):c.212+233A>G rs2288597 0.04244
NM_133459.4(CCBE1):c.132-232C>A rs1864305 0.03623
NM_133459.4(CCBE1):c.988-10A>G rs115490148 0.02376
NM_133459.4(CCBE1):c.266-45C>T rs79596673 0.02095
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.356A>T (p.Tyr119Phe) rs772786164 0.00005
NM_133459.4(CCBE1):c.379C>T (p.Arg127Trp) rs368235813 0.00005
NM_133459.4(CCBE1):c.916-2A>G rs367990953 0.00004
NM_133459.4(CCBE1):c.213-1G>A rs201030273
NM_133459.4(CCBE1):c.303G>T (p.Gln101His)
NM_133459.4(CCBE1):c.654+5G>A rs150596993
NM_133459.4(CCBE1):c.775+82A>G rs3809990
NM_133459.4(CCBE1):c.775G>A (p.Gly259Ser)
NM_133459.4(CCBE1):c.952G>T (p.Gly318Trp)
NM_133459.4(CCBE1):c.988-154dup rs11427032

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