ClinVar Miner

List of variants in gene CFAP53 reported as benign for cardiovascular disorder

Included ClinVar conditions (1426):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_145020.5(CFAP53):c.778-12A>T rs920791 0.32055
NM_145020.5(CFAP53):c.474-18T>C rs35295154 0.30115
NM_145020.5(CFAP53):c.880G>A (p.Glu294Lys) rs35193847 0.28522
NM_145020.5(CFAP53):c.691C>T (p.Arg231Cys) rs12607385 0.03902
NM_145020.5(CFAP53):c.939C>T (p.Leu313=) rs35308427 0.00969
NM_145020.5(CFAP53):c.305G>A (p.Arg102His) rs76722120 0.00711
NM_145020.5(CFAP53):c.615G>C (p.Trp205Cys) rs113161381 0.00691
NM_145020.5(CFAP53):c.798T>A (p.Ile266=) rs113764917 0.00688
NM_145020.5(CFAP53):c.910A>G (p.Arg304Gly) rs34499039 0.00458
NM_145020.5(CFAP53):c.789C>T (p.Asn263=) rs114015053 0.00428
NM_145020.5(CFAP53):c.115A>C (p.Arg39=) rs112087763 0.00337
NM_145020.5(CFAP53):c.57A>G (p.Lys19=) rs180778332 0.00310
NM_145020.5(CFAP53):c.494G>A (p.Arg165His) rs138848935 0.00207
NM_145020.5(CFAP53):c.945A>G (p.Gln315=) rs368815693 0.00014

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