ClinVar Miner

List of variants in gene CFAP52 reported as likely benign for cardiovascular disorder

Included ClinVar conditions (1435):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_145054.5(CFAP52):c.458C>T (p.Ala153Val) rs77839011 0.00442
NM_145054.5(CFAP52):c.537-18T>G rs200087214 0.00349
NM_145054.5(CFAP52):c.1772C>T (p.Thr591Ile) rs112783393 0.00257
NM_145054.5(CFAP52):c.788G>A (p.Gly263Asp) rs139646620 0.00230
NM_145054.5(CFAP52):c.214A>G (p.Ile72Val) rs112544398 0.00129
NM_145054.5(CFAP52):c.1613G>C (p.Arg538Thr) rs140641061 0.00099
NM_145054.5(CFAP52):c.936G>A (p.Ser312=) rs146057434 0.00061
NM_145054.5(CFAP52):c.138A>G (p.Thr46=) rs376343886 0.00022
NM_145054.5(CFAP52):c.243C>T (p.Ser81=) rs373499244 0.00014
NM_145054.5(CFAP52):c.1701T>C (p.His567=) rs776124001 0.00013
NM_145054.5(CFAP52):c.531T>A (p.Ala177=) rs771541433 0.00003
NM_145054.5(CFAP52):c.873C>T (p.Gly291=) rs762482958 0.00003
NM_145054.5(CFAP52):c.1257C>T (p.Gly419=) rs768830852 0.00002
NM_145054.5(CFAP52):c.751T>C (p.Leu251=) rs371814923 0.00002
NM_145054.5(CFAP52):c.1025+19C>A
NM_145054.5(CFAP52):c.1419C>T (p.Asn473=)

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