Gene: CFAP298 ×
Source: CLINVAR ×
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs143740376
rs143740376
CFAP298 ; CFAP298-TCP10L
3 0.925 0.160 21 32609853 stop gained G/A snv 7.6E-05 8.4E-05 0.700 1.000 1 2013 2013
dbSNP: rs202094637
rs202094637
CFAP298 ; CFAP298-TCP10L
3 0.925 0.160 21 32602299 stop gained G/A;C snv 4.0E-06; 8.0E-05 0.700 1.000 1 2013 2013
dbSNP: rs746361802
rs746361802
CFAP298 ; CFAP298-TCP10L
1 21 32603260 frameshift variant -/GCCTCTGCCT delins 1.8E-04; 2.4E-05 2.1E-04 0.700 0