ClinVar Miner

List of variants in gene CFAP53 studied for heterotaxy, visceral, 6, autosomal

Included ClinVar conditions (1):
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Gene type:
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Total variants: 71
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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.194A>G (p.Glu65Gly) rs200684225 0.00126
NM_145020.5(CFAP53):c.124C>T (p.Arg42Cys) rs138060809 0.00087
NM_145020.5(CFAP53):c.1101C>A (p.Asp367Glu) rs369539291 0.00034
NM_145020.5(CFAP53):c.1125G>A (p.Lys375=) rs372566333 0.00032
NM_145020.5(CFAP53):c.239G>A (p.Arg80Gln) rs76334647 0.00026
NM_145020.5(CFAP53):c.945A>G (p.Gln315=) rs368815693 0.00014
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.71G>T (p.Arg24Ile) rs754876515 0.00004
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.498T>A (p.Val166=) rs576840719 0.00002
NM_145020.5(CFAP53):c.69+9A>G rs1226448723 0.00002
NM_145020.5(CFAP53):c.804T>C (p.His268=) rs763736108 0.00002
NM_145020.5(CFAP53):c.1059A>G (p.Glu353=) rs762156930 0.00001
NM_145020.5(CFAP53):c.121C>T (p.Arg41Ter) rs375801610 0.00001
NM_145020.5(CFAP53):c.253G>A (p.Asp85Asn) rs764782179 0.00001
NM_145020.5(CFAP53):c.472A>G (p.Arg158Gly) rs886037751 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.1004_1008del (p.Met335fs)
NM_145020.5(CFAP53):c.1024T>C (p.Tyr342His)
NM_145020.5(CFAP53):c.1033T>C (p.Tyr345His) rs2033707564
NM_145020.5(CFAP53):c.111A>T (p.Leu37=)
NM_145020.5(CFAP53):c.117A>G (p.Arg39=)
NM_145020.5(CFAP53):c.1183T>G (p.Cys395Gly) rs771723710
NM_145020.5(CFAP53):c.1213+13A>T
NM_145020.5(CFAP53):c.1213+17C>A
NM_145020.5(CFAP53):c.1213+1G>A rs2144412496
NM_145020.5(CFAP53):c.1214-1G>A
NM_145020.5(CFAP53):c.121C>G (p.Arg41Gly) rs375801610
NM_145020.5(CFAP53):c.1316+20A>G
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.1513C>T (p.Arg505Cys) rs192619553
NM_145020.5(CFAP53):c.1514G>A (p.Arg505His) rs766960984
NM_145020.5(CFAP53):c.1521A>G (p.Ala507=)
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.300-4T>A rs2144435745
NM_145020.5(CFAP53):c.413A>C (p.Lys138Thr) rs2144435422
NM_145020.5(CFAP53):c.474-2A>G
NM_145020.5(CFAP53):c.474-6T>C
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
NM_145020.5(CFAP53):c.843G>A (p.Lys281=)
NM_145020.5(CFAP53):c.877C>T (p.Gln293Ter) rs897584290
NM_145020.5(CFAP53):c.915C>T (p.Asp305=)
NM_145020.5(CFAP53):c.957A>G (p.Gln319=)
NM_145020.5(CFAP53):c.993A>G (p.Lys331=)

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