ClinVar Miner

List of variants in gene CFAP53 reported as uncertain significance for cardiovascular disorder

Included ClinVar conditions (1435):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_145020.5(CFAP53):c.1101C>A (p.Asp367Glu) rs369539291 0.00034
NM_145020.5(CFAP53):c.239G>A (p.Arg80Gln) rs76334647 0.00026
NM_145020.5(CFAP53):c.46C>T (p.Pro16Ser) rs375198063 0.00023
NM_145020.5(CFAP53):c.1153G>T (p.Ala385Ser) rs548963057 0.00010
NM_145020.5(CFAP53):c.1282G>T (p.Glu428Ter) rs199505634 0.00010
NM_145020.5(CFAP53):c.1475C>T (p.Ser492Phe) rs371913662 0.00007
NM_145020.5(CFAP53):c.737A>T (p.Gln246Leu) rs776670631 0.00004
NM_145020.5(CFAP53):c.769C>T (p.Arg257Cys) rs367667250 0.00004
NM_145020.5(CFAP53):c.1357A>G (p.Met453Val) rs202208883 0.00003
NM_145020.5(CFAP53):c.1411C>T (p.Arg471Ter) rs202140882 0.00003
NM_145020.5(CFAP53):c.1514G>T (p.Arg505Leu) rs766960984 0.00003
NM_145020.5(CFAP53):c.1213+4A>G rs745472916 0.00002
NM_145020.5(CFAP53):c.253G>A (p.Asp85Asn) rs764782179 0.00001
NM_145020.5(CFAP53):c.740C>T (p.Ala247Val) rs765953509 0.00001
NM_145020.5(CFAP53):c.772C>T (p.Leu258Phe) rs756279535 0.00001
NM_145020.5(CFAP53):c.1024T>C (p.Tyr342His)
NM_145020.5(CFAP53):c.1033T>C (p.Tyr345His) rs2033707564
NM_145020.5(CFAP53):c.1183T>G (p.Cys395Gly) rs771723710
NM_145020.5(CFAP53):c.121C>G (p.Arg41Gly) rs375801610
NM_145020.5(CFAP53):c.1318C>T (p.Arg440Cys)
NM_145020.5(CFAP53):c.146C>T (p.Ala49Val)
NM_145020.5(CFAP53):c.1513C>A (p.Arg505Ser)
NM_145020.5(CFAP53):c.1514G>A (p.Arg505His) rs766960984
NM_145020.5(CFAP53):c.1541C>A (p.Pro514Gln) rs199779499
NM_145020.5(CFAP53):c.20G>T (p.Gly7Val)
NM_145020.5(CFAP53):c.235G>C (p.Val79Leu)
NM_145020.5(CFAP53):c.413A>C (p.Lys138Thr) rs2144435422
NM_145020.5(CFAP53):c.553G>A (p.Ala185Thr)
NM_145020.5(CFAP53):c.698G>A (p.Gly233Glu)
NM_145020.5(CFAP53):c.781A>G (p.Ser261Gly) rs2033793556

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